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Sample records for macular dystrophy fundus

  1. Occult Macular Dystrophy

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    Işıl Sayman Muslubaş

    2016-04-01

    Full Text Available Occult macular dystrophy is an inherited macular dystrophy characterized by a progressive decline of bilateral visual acuity with normal fundus appearance, fluorescein angiogram and full-field electroretinogram. This case report presents a 20-year-old female patient with bilateral progressive decline of visual acuity for six years. Her visual acuity was 3-4/10 in both eyes. Anterior segment and fundus examination, fluorescein angiogram and full-field electroretinogram were normal. She could read all Ishihara pseudoisochromatic plates. Fundus autofluorescence imaging was normal. There was a mild central hyporeflectance on fundus infrared reflectance imaging in both eyes. Reduced foveal thickness and alterations of the photoreceptor inner and outer segment junction were observed by optical coherence tomography in both eyes. Central scotoma was also found by microperimetry and reduced central response was revealed by multifocal electroretinogram in both eyes. These findings are consistent with the clinical characteristics of occult macular dystrophy

  2. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13

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    Gerber, S.; Rozet, J.M.; Bonneau, D.; Souied, E.; Camuzat, A.; Munnich, A.; Kaplan, J. [Hopital des Enfants Malades, Paris (France); Dufier, J.L. [Hopital Laeennec, Paris (France); Amalric, P. [Consultation d`Ophtalmologie, Albi (France); Weissenbach, J. [Genethon, Evry (France)

    1995-02-01

    Fundus flavimaculatus with macular dystrophy is an autosomal recessive disease responsible for a progressive loss of visual acuity in adulthood, with pigmentary changes of the macula, perimacular flecks, and atrophy of the retinal pigmentary epithelium. Since this condition shares several clinical features with Stargardt disease, which has been mapped to chromosome 1p21-p13, we tested the disease for linkage to chromosome 1p. We report the mapping of the disease locus to chromosome 1p13-p21, in the genetic interval defined by loci D1S435 and D1S415, in four multiplex families (maximum lod score 4.79 at recombination fraction 0 for probe AFM217xb2 at locus D1S435). Thus, despite differences in the age at onset, clinical course, and severity, fundus flavimaculatus with macular dystrophy and Stargardt disease are probably allelic disorders. This result supports the view that allelic mutations produce a continuum of macular dystrophies, with onset in early childhood to late adulthood. 16 refs., 3 figs., 1 tab.

  3. Dominant cystoid macular dystrophy

    NARCIS (Netherlands)

    Saksens, N.T.M.; Huet, R.A.C. van; Lith-Verhoeven, J.J. van; Hollander, A.I. den; Hoyng, C.B.; Boon, C.J.

    2015-01-01

    OBJECTIVE: To describe the clinical characteristics and long-term follow-up in patients with autosomal dominant cystoid macular dystrophy (DCMD). DESIGN: Retrospective case series. PARTICIPANTS: Ninety-seven patients with DCMD. METHODS: Extensive ophthalmic examination, including visual acuity (VA),

  4. Benign concentric annular macular dystrophy

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    Luísa Salles de Moura Mendonça

    2015-06-01

    Full Text Available The purpose of the authors is to show clinical findings of a patient with benign concentric annular macular dystrophy, which is an unusual condition, and part of the "bull’s eye" maculopathy differential diagnosis. An ophthalmologic examination with color perception, fluorescein angiography, and ocular electrophysiology was performed.

  5. Keratoconus in Patients with Macular Stromal Dystrophy.

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    Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Booranapong, Wipawee

    2016-01-01

    To show the association between keratoconus and macular dystrophy. All patients with macular dystrophy and associated clinical findings leading to a diagnosis of keratoconus by corneal topography were retrospectively reviewed during a 10-year period. Uncorrected and best-corrected visual acuity, automated refraction, manifest refraction, corneal thickness, and corneal curvature by corneal topography were evaluated Three patients with macular dystrophy exhibiting decreased vision, multifocal white dense deposits, and haze surrounding the deposits in the corneal stroma were evaluated. All had a steep corneal curvature of >47 diopters and a thin cornea consistent with keratoconus. Penetrating keratoplasty was performed in one patient with severely decreased vision. Macular dystrophy was diagnosed based on an Alcian blue-stained pathological specimen. Keratoconus may develop as a result of changes associated with macular dystrophy. Therefore, patients with severely decreased vision should be evaluated for keratoconus to ensure proper management.

  6. Characteristics of fundus autofluorescence in cystoid macular edema

    Institute of Scientific and Technical Information of China (English)

    PENG Xi-jia; SU Lan-ping

    2011-01-01

    Background Fundus autofluorescence (FAF) imaging is a fast and noninvasive technique developed over the last decade.The authors utilized fluorescent properties of lipofuscin to study the health and viability of the retinal pigment epithelium (RPE)-photoreceptor complex.Observing the intensity and distribution of FAF of various retinal diseases is helpful for ascertaining diagnosis and evaluating prognosis.In this study,we described the FAF characteristics of cystoid macular edema (CME).Methods Sixty-two patients (70 eyes) with CME were subjected to FAF and fundus fluorescein angiography (FFA) by a confocal scanning laser ophthalmoscope (Heidelberg Retina Angiograph 2 (HRA2)).Characteristics of FAF images were compared with FFA images.Results FAF intensity in normal subjects was highest at the posterior pole and dipped at the fovea.All cases of CME showed fluorescein dye accumulated into honeycomb-like spaces in macular and formated a typical petaloid pattern or atypical petaloid pattern in the late phases of the angiography.Sixty-one eyes with CME on FAF images showed mild or moderate hyperautofluorescence petaloid pattern in fovea,the FAF patterns of these CME was perfectly corresponding with shape in their FFA images;nine eyes with CME secondary to exudative age related macular degeneration (AMD) showed expansion of the hypoautofluorescence without petaloid pattern in macula.Conclusion FAF imaging can be used as a new rapid,non-invasive and ancillary technique in the diagnosis of the majority of CME,except for AMD and small part of other fundus diseases.

  7. Analysis of macular cone photoreceptors in a case of occult macular dystrophy

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    Tojo N

    2013-05-01

    Full Text Available Naoki Tojo Tomoko Nakamura Hironori Ozaki Miyako Oka Toshihiko Oiwake Atsushi HayashiDepartment of Ophthalmology, University of Toyama, Toyama, JapanPurpose: To investigate changes in cone photoreceptors with adaptive optics (AO fundus imaging and spectral domain optical coherence tomography (SD-OCT in a case of occult macular dystrophy (OMD.Patient and methods: Both eyes of a 42-year-old woman diagnosed with OMD were examined. We used an AO fundus camera to obtain images of cone photoreceptors in the macula of the OMD subject and five healthy control subjects. Correlations between the AO images and the SD-OCT images were examined. Cone photoreceptors in eight areas in the macula of OMD and healthy control subjects were analyzed and compared.Results: SD-OCT showed a loss of the cone outer-segment tips line outside of the fovea in both eyes of the subject with OMD. The left eye with decreased visual acuity showed a discontinuous photoreceptor inner-segment and outer-segment line and cone outer-segment tips line at the fovea in SD-OCT and loss of cone mosaics as a dark spot in the AO image. In panoramic AO images and cone-density maps, less cone density was observed in a ring-like region outside the fovea than in the peripheral retina. In most of the areas examined, the cone densities were lower in the OMD eyes than in the healthy control eyes.Conclusions: Cone densities in the macula of the OMD patient were greatly decreased. AO images were found to be useful to evaluate morphologic changes in cone photoreceptors in patients with OMD.Keywords: occult macular dystrophy, adaptive optics, cone photoreceptor, cone analysis, optical coherence tomography

  8. Acetazolamide for cystoid macular oedema in Bietti crystalline retinal dystrophy.

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    Broadhead, Geoffrey K; Chang, Andrew A

    2014-04-01

    Bietti crystalline retinal dystrophy is a rare, inherited disorder whose hallmark is the presence of retinal crystal deposits associated with later chorioretinal degeneration. This condition may rarely be complicated by the development of cystoid macular oedema leading to rapid visual decline. Currently, treatment options for this complication of Bietti dystrophy are limited and the visual prognosis is poor. Here, we present a case of cystoid macular oedema associated with Bietti dystrophy that was successfully diagnosed using multimodal imaging techniques including optical coherence tomography and fluorescein angiography. These modalities confirmed the diagnosis of macular oedema and excluded other possible causes of oedema such as choroidal neovascularisation. In this patient, cystoid macular oedema was resolved with oral acetazolamide therapy, a treatment that has not been previously reported in this context. Acetazolamide treatment resulted in oedema resolution and improvement in visual function, and can be considered a therapeutic option for other patients with Bietti dystrophy who develop cystoid macular oedema.

  9. The grey fovea sign of macular oedema or subfoveal fluid on non-stereoscopic fundus photographs

    DEFF Research Database (Denmark)

    Hasler, Pascal W; Soliman, Wael; Sander, Birgit

    2017-01-01

    PURPOSE: To describe the grey fovea sign of fovea-involving macular oedema or subretinal fluid accumulation in red-free fundus photography. METHODS: A test set of 91 digital fundus photographs of good quality from 100 consecutive eyes in 72 patients with diabetic retinopathy or central serous cho...

  10. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.

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    Khan, A O; Budde, B S; Nürnberg, P; Kawalia, A; Lenzner, S; Bolz, H J

    2017-03-30

    To uncover the genotype underlying early-onset cone-rod dystrophy and central nummular macular atrophic lesion in 2 siblings from an endogamous Arab family, we performed targeted next-generation sequencing (NGS) of 44 retinal dystrophy genes, whole-exome sequencing (WES) and genome-wide linkage analysis. Targeted NGS and WES in the index patient highlighted 2 homozygous variants, a CCDC66 frameshift deletion and a novel missense NMNAT1 variant, c.500G>A (p.Asn167Ser). Linkage and segregation analysis excluded the CCDC66 variant and confirmed the NMNAT1 mutation. Biallelic NMNAT1 mutations cause Leber congenital amaurosis with a central nummular macular atrophic lesion (LCA9). The NMNAT1 mutation reported here underlied cone-rod dystrophy rather than LCA but the fundus lesion was compatible with that of LCA9 patients, highlighting that such a fundus appearance should raise suspicion for biallelic mutations in NMNAT1 when in the context of any retinal dystrophy. Although Ccdc66 mutations have been proposed to cause retinal disease in dogs, our results and public databases challenge CCDC66 as a candidate gene for human retinal dystrophy. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Fundus Autofluorescence in Age-related Macular Degeneration

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    Ly, Angelica; Nivison-Smith, Lisa; Assaad, Nagi; Kalloniatis, Michael

    2017-01-01

    ABSTRACT Fundus autofluorescence (FAF) provides detailed insight into the health of the retinal pigment epithelium (RPE). This is highly valuable in age-related macular degeneration (AMD) as RPE damage is a hallmark of the disease. The purpose of this paper is to critically appraise current clinical descriptions regarding the appearance of AMD using FAF and to integrate these findings into a chair-side reference. A wide variety of FAF patterns have been described in AMD, which is consistent with the clinical heterogeneity of the disease. In particular, FAF imaging in early to intermediate AMD has the capacity to reveal RPE alterations in areas that appear normal on funduscopy, which aids in the stratification of cases and may have visually significant prognostic implications. It can assist in differential diagnoses and also represents a reliable, sensitive method for distinguishing reticular pseudodrusen. FAF is especially valuable in the detection, evaluation, and monitoring of geographic atrophy and has been used as an endpoint in clinical trials. In neovascular AMD, FAF reveals distinct patterns of classic choroidal neovascularization noninvasively and may be especially useful for determining which eyes are likely to benefit from therapeutic intervention. FAF represents a rapid, effective, noninvasive imaging method that has been underutilized, and incorporation into the routine assessment of AMD cases should be considered. However, the practicing clinician should also be aware of the limitations of the modality, such as in the detection of foveal involvement and in the distinction of phenotypes (hypo-autofluorescent drusen from small areas of geographic atrophy). PMID:27668639

  12. Octreotide acetate in dominant cystoid macular dystrophy.

    NARCIS (Netherlands)

    Hogewind, B.F.T.; Pieters, G.; Hoyng, C.B.

    2008-01-01

    PURPOSE: Dominant cystoid macular degeneration (DCMD) is an autosomal dominant trait of cystoid macular edema with poor visual prognosis. Until now, no efficient treatments for DCMD have been reported. The authors evaluated a somatostatin-analogue (octreotide acetate) as treatment for DCMD. METHODS:

  13. Automatic Drusen Quantification and Risk Assessment of Age-related Macular Degeneration on Color Fundus Images

    NARCIS (Netherlands)

    Grinsven, M.J.J.P. van; Lechanteur, Y.T.E.; Ven, J.P.H. van de; Ginneken, B. van; Hoyng, C.B.; Theelen, T.; Sanchez, C.I.

    2013-01-01

    PURPOSE: To evaluate a machine learning algorithm that allows for computer aided diagnosis (CAD) of non-advanced age-related macular degeneration (AMD) by providing an accurate detection and quantification of drusen location, area and size. METHODS: Color fundus photographs of 407 eyes without AMD

  14. Fundus Analysis and Visual Prognosis of Macular Hemorrhage in Pathological Myopia without Choroidal Neovasculopathy

    Institute of Scientific and Technical Information of China (English)

    Haitao Li; Feng Wen; De-zheng Wu; Guangwei Luo; Shizhou Huang; Tianqin Guan; Caijiao Liu

    2004-01-01

    Purpose:To analysis and evaluate the fundus characteristics and visual prognosis of macular hemorrhage in pathological myopia without choroidal neovasculopathy. Methods:Thirty-seven patients (38 eyes) of pathological myopia with macular hemorrhage and without choroidal neovascularization (CNV) underwent color photograph and fundus fiuorescein angiography (FFA) examinations. Indocyanine green angiography (ICGA) was also performed on 11 patients (11 eyes). Follow-up ranged from 3 to 21 months.Results :The macular hemorrhage in pathological, myopia without CNV demonstrated oval, less than 1PD, without edema and exudation. Lacquer cracks appeared at the site of previous subretinal bleeding in 84.2% of the eyes. The visual acuities were improved in 81.6% of eyes during the follow-up period. ICGA revealed linear hypofluorescence in 7 of 11 eyes (63.6%), indicating a ruptured Bruch's membrance at the onset of subretinal bleeding.Conclusion: A rupture of choriocapillaris complex and Bruch's membrane causes macular hemorrhage of pathological myopia without CNV, leading to the formation of a new lacquer crack. Its prognosis is favorable. Eye Science 2004;20:57-62.

  15. A STUDY TO COMPARE FUNDUS FLUORESCEIN ANGIOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY IN AGE RELATED MACULAR DEGENERATION

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    Rani Sujatha

    2016-02-01

    Full Text Available PURPOSE To compare the diagnostic accuracy of optical coherence tomography with Fundus Fluorescein Angiography in diagnosing Age related macular degeneration. METHODS A total 25 patients newly diagnosed as Age related macular degeneration were included in the study. The study was done during the time period between August 2013 to November 2015 this is a prospective randomized hospital based study. RESULTS Maximum no of patients affected belonged to the age group of 50-70 years and 60% were females. The most common symptom was defective vision accounting for 92%. Hypertension and hyperlipidemia were the most common risk factors. 12% of the cases had unilateral disease and 88% had bilateral disease. 6% of eyes were normal in both FFA and OCT. 62% of the eyes by FFA and 61% of the eyes by OCT had dry ARMD and 32 % of the eye by FFA and 33 % by OCT had wet ARMD. CONCLUSION Fundus Fluorescein Angiography is the gold standard tool for screening ARMD and OCT is more specific in detecting early subretinal neovascular membrane and also to assess the activity of the neovascular membranes. Hence OCT is superior to FFA in diagnosing early wet ARMD and thus helps in early management of patients with ARMD.

  16. The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.

    NARCIS (Netherlands)

    Lith-Verhoeven, J.J. van; Hoyng, C.B.; Helm, B. van den; Deutman, A.F.; Brink, H.M.A.; Kemperman, M.H.; Jong, W.H. de; Kremer, J.M.J.; Cremers, F.P.M.

    2004-01-01

    PURPOSE: To describe the clinical findings and to identify the genetic locus in a Dutch family with autosomal dominant benign concentric annular macular dystrophy (BCAMD). METHODS: All family members underwent ophthalmic examination. Linkage analysis of candidate retinal dystrophy loci and a whole g

  17. Computer Aided Diagnosis of Macular Edema Using Color Fundus Images: A Review

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    Devashree R. Zinjarde,

    2014-03-01

    Full Text Available Diabetic retinopathy is the leading cause of blindness in the western working age population and micro aneurysms are one of the first pathologies associated with diabetic retinopathy. Diabetic retinopathy (DR is caused by damage to the blood vessels of the retina which affects the vision. But when DR becomes severe it results into macular edema. Macula is the region near the centre of the eye that provides the vision. Blood vessels leak fluid onto the macula leading to the swelling which blurs the vision eventually leading to complete loss of vision. This paper is based on the detection of the edema affected image from the normal image. If the image is edema affected it also states its severity of the disease using a rotational asymmetry metric by examining the symmetry of the macular region. Diabetic macular edema (DME is an advanced symptom of diabetic retinopathy and can lead to irreversible vision loss. A feature extraction technique is introduced to capture the global characteristics of the fundus images and discriminate the normal from DME images.

  18. Classification of Diabetic Macular Edema and Its Stages Using Color Fundus Image

    Institute of Scientific and Technical Information of China (English)

    Muhammad Zubair; Shoab A. Khan; Ubaid Ullah Yasin

    2014-01-01

    Diabetic macular edema (DME) is a retinal thickening involving the center of the macula. It is one of the serious eye diseases which affects the central vision and can lead to partial or even complete visual loss. The only cure is timely diagnosis, prevention, and treatment of the disease. This paper presents an automated system for the diagnosis and classification of DME using color fundus image. In the proposed technique, first the optic disc is removed by applying some preprocessing steps. The preprocessed image is then passed through a classifier for segmentation of the image to detect exudates. The classifier uses dynamic thresholding technique by using some input parameters of the image. The stage classification is done on the basis of anearly treatment diabetic retinopathy study (ETDRS) given criteria to assess the severity of disease. The proposed technique gives a sensitivity, specificity, and accuracy of 98.27%, 96.58%, and 96.54%, respectively on publically available database.

  19. Evaluation of peripheral fundus autofluorescence in eyes with wet age-related macular degeneration

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    Suetsugu T

    2016-12-01

    Full Text Available Tetsuyuki Suetsugu,1,2 Aki Kato,1 Munenori Yoshida,1 Tsutomu Yasukawa,1 Akiko Nishiwaki,1,3 Norio Hasegawa,1 Hideaki Usui,1 Yuichiro Ogura1 1Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, 2Department of Ophthalmology, General Kamiiida Daiichi Hospital, 3Nishiwaki Eye Clinic, Nagoya, Aichi, Japan Purpose: We aimed to evaluate the prevalence of abnormal peripheral fundus autofluorescence (FAF in wet age-related macular degeneration (AMD using wide-field imaging instrument. Patients and methods: A retrospective, case-controlled study involving 66 eyes of 46 Japanese wet AMD patients and 32 eyes of 20 control patients was performed. Wide-field FAF images were obtained for typical AMD (37 eyes/28 patients, polypoidal choroidal vasculopathy (PCV (22 eyes/20 patients, and retinal angiomatous proliferation (RAP (seven eyes/four patients. Two masked ophthalmologists independently graded the images for mottled, granular, and nummular patterns. Main outcome measures were abnormal peripheral FAF frequencies and relative risks by disease subgroups and treatments. Results: Abnormal peripheral FAF patterns were found in 51.5% of wet AMD eyes compared with 18.8% of control eyes (P<0.001. Mottled, granular, and nummular patterns were found in 45.5%, 31.8%, and 16.7%, respectively, of wet AMD eyes. Each disease subgroup (typical AMD, 54.1%; PCV, 36.4%; and RAP, 85.7% showed significantly higher frequencies of peripheral FAF (P<0.001, P=0.03, and P<0.001, respectively than control eyes (18.8%. There were no significant differences (P=0.76 between the frequencies in untreated and treated eyes. Conclusion: Eyes of Japanese wet AMD patients had a higher abnormal FAF prevalence compared with control eyes. Among the three disease subtypes, abnormal patterns were least prevalent in PCV eyes. Keywords: age-related macular degeneration, fundus autofluorescence, polypoidal choroidal vasculopathy, retinal

  20. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13

    DEFF Research Database (Denmark)

    Small, Kent W; DeLuca, Adam P; Whitmore, S Scott

    2016-01-01

    PURPOSE: To identify specific mutations causing North Carolina macular dystrophy (NCMD). DESIGN: Whole-genome sequencing coupled with reverse transcription polymerase chain reaction (RT-PCR) analysis of gene expression in human retinal cells. PARTICIPANTS: A total of 141 members of 12 families...... development. Four of these strongly implicate the involvement of PRDM13 in macular development, whereas the pathophysiologic mechanism of the fifth remains unknown but may involve the developmental dysregulation of IRX1....

  1. Increased fundus autofluorescence and progression of geographic atrophy secondary to age-related macular degeneration. The GAIN study.

    OpenAIRE

    Biarnés Pérez, Marc, 1973-; Arias, Luis; Alonso Caballero, Jordi; García, Míriam; Hijano, Míriam; Rodríguez, Anabel; Serrano, Anna; Badal, Josep; Muhtaseb, Hussein; Verdaguer, Paula; Monés, Jordi

    2015-01-01

    PURPOSE: To define the role of increased fundus autofluorescence (FAF), a surrogate for lipofuscin content, as a risk factor for progression of geographic atrophy (GA). DESIGN: Prospective natural history cohort study, the GAIN (Characterization of geographic atrophy progression in patients with age-related macular degeneration). METHODS: setting: Single-center study conducted in Barcelona, Spain. PATIENTS: After screening of 211 patients, 109 eyes of 82 patients with GA secondary to age-rela...

  2. Outcomes of Penetrating Keratoplasty for Macular Corneal Dystrophy

    Science.gov (United States)

    Karimian, Farid; Baradaran-Rafii, Ali-Reza; Feizi, Sepehr; Zare, Mohammad; Jafarinasab, Mohammad-Reza; Javadi, Mohammad-Ali; Mirdehghan, S. Ali; Einollahi, Bahram

    2009-01-01

    Purpose To report the outcomes of penetrating keratoplasty (PKP) in patients with macular corneal dystrophy (MCD). Methods This retrospective case series includes consecutive patients with MCD who underwent PKP from 1986 to 2006 with at least 6 months’ follow-up. Main outcome measures included best spectacle-corrected visual acuity (BSCVA), postoperative astigmatism and graft survival. Results Sixty-two eyes of 39 patients with mean age of 34.0±10.5 (range 13–58) years at the time of keratoplasty were included for analysis. After a mean follow-up period of 52.0±47.3 (range 6–190) months, BSCVA improved from 1.4±0.4 logMAR (4/100) preoperatively to 0.2±0.3 logMAR (20/32) at final follow-up (P<0.001).Mean postoperative BSCVA was 0.15±0.40 logMAR in patients (36 eyes) aged less than 35 years at the time of surgery as compared to 0.26±0.25 logMAR in subjects (26 eyes) older than 35 years (P=0.005). Final astigmatism was comparable with different suturing techniques including separate, continuous, and combined sutures (P=0.9). All grafts were clear at final follow-up except a single case of MCD with visually insignificant recurrence.Episodes of immunologic graft rejection occurred in 12 eyes (19.4%) but none led to graft failure. Conclusion PKP for MCD entails favorable outcomes in terms of graft survival and visual improvement. Final visual acuity seems to be better when transplantation is performed before the age of 35 years. PMID:23056668

  3. Exudate-based diabetic macular edema detection in fundus images using publicly available datasets

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    Giancardo, Luca [ORNL; Meriaudeau, Fabrice [ORNL; Karnowski, Thomas Paul [ORNL; Li, Yaquin [University of Tennessee, Knoxville (UTK); Garg, Seema [University of North Carolina; Tobin Jr, Kenneth William [ORNL; Chaum, Edward [University of Tennessee, Knoxville (UTK)

    2011-01-01

    Diabetic macular edema (DME) is a common vision threatening complication of diabetic retinopathy. In a large scale screening environment DME can be assessed by detecting exudates (a type of bright lesions) in fundus images. In this work, we introduce a new methodology for diagnosis of DME using a novel set of features based on colour, wavelet decomposition and automatic lesion segmentation. These features are employed to train a classifier able to automatically diagnose DME through the presence of exudation. We present a new publicly available dataset with ground-truth data containing 169 patients from various ethnic groups and levels of DME. This and other two publicly available datasets are employed to evaluate our algorithm. We are able to achieve diagnosis performance comparable to retina experts on the MESSIDOR (an independently labelled dataset with 1200 images) with cross-dataset testing (e.g., the classifier was trained on an independent dataset and tested on MESSIDOR). Our algorithm obtained an AUC between 0.88 and 0.94 depending on the dataset/features used. Additionally, it does not need ground truth at lesion level to reject false positives and is computationally efficient, as it generates a diagnosis on an average of 4.4 s (9.3 s, considering the optic nerve localization) per image on an 2.6 GHz platform with an unoptimized Matlab implementation.

  4. Automatic Diabetic Macular Edema Detection in Fundus Images Using Publicly Available Datasets

    Energy Technology Data Exchange (ETDEWEB)

    Giancardo, Luca [ORNL; Meriaudeau, Fabrice [ORNL; Karnowski, Thomas Paul [ORNL; Li, Yaquin [University of Tennessee, Knoxville (UTK); Garg, Seema [University of North Carolina; Tobin Jr, Kenneth William [ORNL; Chaum, Edward [University of Tennessee, Knoxville (UTK)

    2011-01-01

    Diabetic macular edema (DME) is a common vision threatening complication of diabetic retinopathy. In a large scale screening environment DME can be assessed by detecting exudates (a type of bright lesions) in fundus images. In this work, we introduce a new methodology for diagnosis of DME using a novel set of features based on colour, wavelet decomposition and automatic lesion segmentation. These features are employed to train a classifier able to automatically diagnose DME. We present a new publicly available dataset with ground-truth data containing 169 patients from various ethnic groups and levels of DME. This and other two publicly available datasets are employed to evaluate our algorithm. We are able to achieve diagnosis performance comparable to retina experts on the MESSIDOR (an independently labelled dataset with 1200 images) with cross-dataset testing. Our algorithm is robust to segmentation uncertainties, does not need ground truth at lesion level, and is very fast, generating a diagnosis on an average of 4.4 seconds per image on an 2.6 GHz platform with an unoptimised Matlab implementation.

  5. Outcomes of Penetrating Keratoplasty for Macular Corneal Dystrophy

    Directory of Open Access Journals (Sweden)

    Farid Karimian

    2009-01-01

    Full Text Available

    PURPOSE: To report the outcomes of penetrating keratoplasty (PKP in patients with macular corneal dystrophy (MCD. METHODS: This retrospective case series includes consecutive patients with MCD who underwent PKP from 1986 to 2006 with at least 6 months' follow-up. Main outcome measures included best spectacle-corrected visual acuity (BSCVA, postoperative astigmatism and graft survival. RESULTS: Sixty-two eyes of 39 patients with mean age of 34.0±10.5 (range 13-58 years at the time of keratoplasty were included for analysis. After a mean follow-up period of 52.0±47.3 (range 6-190 months, BSCVA improved from 1.4±0.4 logMAR (4/100 preoperatively to 0.2±0.3 logMAR (20/32 at final follow-up (P < 0.001. Mean postoperative BSCVA was 0.15±0.40 logMAR in patients (36 eyes aged less than 35 years at the time of surgery as compared to 0.26±0.25 logMAR in subjects (26 eyes older than 35 years (P=0.005. Final astigmatism was comparable with different suturing techniques including separate, continuous, and combined sutures (P=0.9. All grafts were clear at final follow-up except a single case of MCD with visually insignificant recurrence. Episodes of immunologic graft rejection occurred in 12 eyes (19.4% but none led to graft failure. CONCLUSION: PKP for MCD entails favorable outcomes in terms of graft survival and visual improvement

  6. Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

    Directory of Open Access Journals (Sweden)

    Sakuramoto H

    2013-08-01

    Full Text Available Hiroyuki Sakuramoto,1 Kazuki Kuniyoshi,1 Kazushige Tsunoda,2 Masakazu Akahori,2 Takeshi Iwata,2 Yoshikazu Shimomura1 1Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan; 2National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan Background: We report our findings in two siblings with late-onset cone–rod dystrophy (CRD with no visible macular degeneration. Cases and methods: Case 1 was an 82-year-old man who first noticed a decrease in vision and color blindness in his early seventies. His mother and younger sister also had visual disturbances. His decimal visual acuity was 0.3 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed normal fundi, and fluorescein angiography was also normal in both eyes. The photopic single flash and flicker eletroretinograms (ERGs were severely attenuated and the scotopic ERGs were slightly reduced in both eyes. Case 2 was the 80-year-old younger sister of Case 1. She first noticed a decline in vision and photophobia in both eyes in her early seventies. Her decimal visual acuity was 0.4 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed mottling of the retinal pigment epithelium in the midperiphery with no visible macular degeneration. The photopic single flash and flicker ERGs were severely attenuated, and the scotopic ERGs were slightly reduced in both eyes. Conclusion: These siblings are the oldest reported cases of CRD with no visible macular degeneration. Thus, CRD should be considered in patients with reduced visual acuity, color blindness, and photophobia even if they are older than 70 years. Keywords: cone–rod dystrophy, peripheral cone dystrophy, occult macular dystrophy, late onset, macular degeneration, negative ERG

  7. Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome.

    Science.gov (United States)

    Kamal-Salah, Radua; Baquero-Aranda, Isabel; Grana-Pérez, María Del Mar; García-Campos, Jose Manuel

    2015-03-12

    We report an unusual association of a pattern dystrophy of the retinal pigment epithelium and homonymous hemianopia in a woman diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome.

  8. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

    Directory of Open Access Journals (Sweden)

    Omer Karti

    2017-09-01

    Conclusions and importance: This case of HJMD was related to a novel homozygous mutation, termed c.447_467del (p.149_156del. These findings have significance for the future mutational analysis and genetic counseling of families with HJMD, particularly in our region. The presence of sparse hair in childhood, with or without limb anomalies, should alert clinicians to request an eye consultation. Pediatricians, dermatologists, and ophthalmologists should be aware of the rarely seen entity of juvenile macular dystrophy with hypotrichosis.

  9. Butterfly-shaped macular dystrophy. Longitudinal case study of two siblings.

    Science.gov (United States)

    Petracci, M; Pannini, S; Frezzotti, R

    1993-12-01

    Two brothers with butterfly-shaped macular dystrophy (BSMD) are reported. The anatomical and functional data were analyzed in 11 family members. Progressive photoreceptor dysfunction, supported by ERG abnormalities, was documented in both patients. The progression of the disease was observed over a period of seven years. The present observations emphasize that BSMD, at least in some cases, can be a chronic progressive disorder with secondary involvement of the photoreceptors.

  10. [Role of immunological factors in peripheral vitreo-chorioretinal dystrophies and macular ruptures of the retina].

    Science.gov (United States)

    Balashova, L M; Saksonova, E O; Zaĭtseva, N S; Slepova, O S; Teplinskaia, L E; Il'nitskiĭ, V V; Grishin, V L

    1995-01-01

    The authors analyze the results of clinical and immunological examinations of patients with peripheral vitreo-chorioretinal dystrophies (PVCRD) and macular ruptures of the retina. No antibodies to S-AG were detected in the lacrimal fluid in 87.5% of patients with PVCRD without retinal defects. In patients with PVCRD with retinal defects antibodies to S-AG were detected in 70% of cases. These antibodies were absent in the patients with macular ruptures of the retina. In none of the patients were these antibodies detected in the blood serum. The levels of circulating immune complexes were normal in the patients PVCRD and increased in those with macular ruptures of the retina. These data permit a hypothesis on the development of local autoimmune reactions in PVCRD patients in response to the appearance of AG of the injured tissues.

  11. Corneal Higher Order Aberrations in Granular, Lattice and Macular Corneal Dystrophies

    Science.gov (United States)

    Yagi-Yaguchi, Yukari; Yamaguchi, Takefumi; Okuyama, Yumi; Satake, Yoshiyuki; Tsubota, Kazuo; Shimazaki, Jun

    2016-01-01

    Purpose To evaluate the corneal higher-order aberrations (HOAs) in granular, lattice and macular corneal dystrophies. Methods This retrospective study includes consecutive patients who were diagnosed as granular corneal dystrophy type2 (GCD2; 121 eyes), lattice corneal dystrophies type 1, type 3A (LCDI; 20 eyes, LCDIIIA; 32 eyes) and macular corneal dystrophies (MCD; 13 eyes), and 18 healthy control eyes. Corneal HOAs were calculated using anterior segment optical coherence tomography, and the correlations between HOAs and visual acuity were analyzed. Results HOAs of the total cornea within 4 mm diameter were significantly larger in GCD2 (0.17 ± 0.35 μm), in LCDI (0.33 ± 0.27), LCDIIIA (0.61 ± 1.56) and in MCD (0.23 ± 0.18), compared with healthy controls (0.09 ± 0.02μm, all P GCD2 (0.32 ± 0.48), in LCDI (0.60 ± 0.46), LCDIIIA (0.83 ± 2.29) and in MCD (0.44 ± 0.24), compared with healthy controls (0.19 ± 0.06, all P GCD2, there was no significant correlation between logMAR and HOAs (r = 0.113, P = 0.227). In MCD, LCDI and LCDIIIA, logMAR was positively significantly correlated with HOAs (r = 0.620 and P = 0.028, r = 0.587 and P = 0.007, r = 0.614 and P < 0.001, respectively). Conclusions Increased HOAs occur in eyes with corneal dystrophies, especially in eye with LCD and MCD. Larger amount corneal HOAs are associated with poorer visual acuity in patients with LCD and MCD. PMID:27536778

  12. Distribution of intraretinal exudates in diabetic macular edema during anti-vascular endothelial growth factor therapy observed by spectral domain optical coherence tomography and fundus photography.

    Science.gov (United States)

    Pemp, Berthold; Deák, Gábor; Prager, Sonja; Mitsch, Christoph; Lammer, Jan; Schmidinger, Gerald; Scholda, Christoph; Schmidt-Erfurth, Ursula; Bolz, Matthias

    2014-12-01

    To evaluate changes in the distribution and morphology of intraretinal microexudates and hard exudates (HEs) during intravitreal anti-vascular endothelial growth factor therapy in patients with persistent diabetic macular edema. Twenty-four patients with persistent diabetic macular edema after photocoagulation were investigated in this prospective cohort study. Each eye was assigned to a loading dose of three anti-vascular endothelial growth factor treatments at monthly intervals. Additional single treatments were performed if diabetic macular edema persisted or recurred. Intraretinal exudates were analyzed over 6 months using spectral domain optical coherence tomography (SD-OCT) and fundus photography. Before treatment, microexudates were detected by SD-OCT as hyperreflective foci in 24 eyes, whereas HEs were seen in 22 eyes. During therapy, HE increased significantly in number and size. This was accompanied by accumulation of microexudates in the outer retina. Enlargement of hyperreflective structures in SD-OCT was accompanied by enlargement of HE at corresponding fundus locations. A rapid reduction in diabetic macular edema was seen in all patients, but to varying degrees. Patients with hemoglobin A1c levels exudates at corresponding locations in fundus photography and SD-OCT. Intraretinal aggregates of microexudates detectable as hyperreflective foci by SD-OCT may compose and precede HE before they become clinically visible.

  13. Excimer laser phototherapeutic keratectomy in conjunction with mitomycin C in corneal macular and granular dystrophies

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    Erdem Yuksel

    2016-04-01

    Full Text Available ABSTRACT Purpose: To evaluate the visual outcomes, recurrence patterns, safety, and efficacy of excimer laser phototherapeutic keratectomy (PTK in conjunction with mitomycin C (MMC for corneal macular and granular diystrophies. Methods: The patients were divided into two groups. Group 1 included patients with macular corneal dystrophy (MCD that caused superficial corneal plaque opacities, and Group 2 included patients with granular corneal dystrophy (GCD. Patients in both groups were pre-, peri-, and postoperatively evaluated. The groups were compared in terms of uncorrected visual acuity (VA, best spectacle-corrected VA, presence of mild or significant recurrence, and time of recurrence. Results: Eighteen eyes (nine with MCD and nine with GCD of 18 patients (10 men and eight women were included. PTK was performed for each eye that was included in this study. The mean ablation amount was 117.8 ± 24.4 µm and 83.5 ± 45.7 µm in MCD and GCD, respectively, (p=0.18. The postoperative improvement of the mean VA was similar between the two groups before recurrences (p>0.43 and after recurrences (p>0.71. There were no statistically significant differences in the recurrence rate and the recurrence-free period for any recurrence type. Conclusion: PTK was an effective, safe, and minimally invasive procedure for patients with MCD and GCD. PTK in conjunction with MMC was similarly effective for both groups in terms of recurrence and visual outcomes.

  14. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

    NARCIS (Netherlands)

    Roosing, S.; Born, L.I. van den; Sangermano, R.; Banfi, S.; Koenekoop, R.K.; Zonneveld-Vrieling, M.N.; Klaver, C.C.; Lith-Verhoeven, J.J. van; Cremers, F.P.M.; Hollander, A.I. den; Hoyng, C.B.

    2015-01-01

    PURPOSE: This study aimed to identify the genetic defects in 2 families with autosomal recessive macular dystrophy with central cone involvement. DESIGN: Case series. PARTICIPANTS: Two families and a cohort of 244 individuals with various inherited maculopathies and cone disorders. METHODS:

  15. Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

    Science.gov (United States)

    Sakuramoto, Hiroyuki; Kuniyoshi, Kazuki; Tsunoda, Kazushige; Akahori, Masakazu; Iwata, Takeshi; Shimomura, Yoshikazu

    2013-01-01

    Background We report our findings in two siblings with late-onset cone–rod dystrophy (CRD) with no visible macular degeneration. Cases and methods Case 1 was an 82-year-old man who first noticed a decrease in vision and color blindness in his early seventies. His mother and younger sister also had visual disturbances. His decimal visual acuity was 0.3 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed normal fundi, and fluorescein angiography was also normal in both eyes. The photopic single flash and flicker eletroretinograms (ERGs) were severely attenuated and the scotopic ERGs were slightly reduced in both eyes. Case 2 was the 80-year-old younger sister of Case 1. She first noticed a decline in vision and photophobia in both eyes in her early seventies. Her decimal visual acuity was 0.4 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed mottling of the retinal pigment epithelium in the midperiphery with no visible macular degeneration. The photopic single flash and flicker ERGs were severely attenuated, and the scotopic ERGs were slightly reduced in both eyes. Conclusion These siblings are the oldest reported cases of CRD with no visible macular degeneration. Thus, CRD should be considered in patients with reduced visual acuity, color blindness, and photophobia even if they are older than 70 years. PMID:24039390

  16. Perifoveal function in patients with North Carolina macular dystrophy: the importance of accounting for fixation locus.

    Science.gov (United States)

    Seiple, William; Szlyk, Janet P; Paliga, Jennifer; Rabb, Maurice F

    2006-04-01

    To quantify the extent of visual function losses in patients with North Carolina Macular Dystrophy (NCMD) and to demonstrate the importance of accounting for eccentric fixation when making comparisons with normal data. Five patients with NCMD who were from a single family were examined. Multifocal electroretinograms (mfERGs) and psychophysical assessments of acuity and luminance visual field sensitivities were measured throughout the central retina. Comparisons of responses from equivalent retinal areas were accomplished by shifting normal templates to be centered at the locus of fixation for each patient. Losses of psychophysically measured visual function in patients with NCMD extend to areas adjacent to the locations of visible lesions. The multifocal ERG amplitude was reduced only within the area of visible lesion. Multifocal ERG implicit times were delayed throughout the entire central retinal area assessed. ERG timing is a sensitive assay of retinal function, and our results indicate that NCMD has a widespread effect at the level of the mid and outer retina. The findings also demonstrated that it is necessary to account for fixation locus and to ensure that equivalent retinal areas are compared when testing patients with macular disease who have eccentric fixation.

  17. Imaging characteristics of optical coherence tomography in vitelliform macular dystrophy%卵黄样黄斑营养不良的光学相干断层扫描影像学特征

    Institute of Scientific and Technical Information of China (English)

    李娟娟; 张文佳; 盛智超; 胡竹林

    2011-01-01

    Objcetive To evaluate the imaging characteristics of optical coher ence tomography( OCT)irIvitelliform macular dystrophy at different stages. Methods The imaging characteristics of OCT in 6 patients(8eyes) with vitelliform macular dys trophy were retrospectively analyzed, which were compared with the results of their fundus examination and fundus fluorescein angiography. Results At the stage of vi telliform, the fundus examination disclosed a round elevated yellowish lesion, OCT showed an area of hyper reflectivity locating between the retinal pigment epithelium lay er and the photoreceptor layer. With the progression of disease, the thickness of ner osensory was increased. At the stage of atrophy, the atrophic focus was observed in the macular area, OCT showed the retinal pignent epithelium-choroid complement was thick.the nerve layer was thin,and the high reflective vessel membrane was seen in the combined choroidal neovascuLarization.Conclusion OCT combined with detailed medical recard,fundus examination and tluorescence fundus angiography can be helpful for the analysis of clinical characteristics and pathologic changes.%目的 探讨卵黄样黄斑营养不良各病变阶段光学相干断层扫描(optical coherence tomography,OCT)的影像学特征.方法 回顾性分析6例(8眼)卵黄样黄斑营养不良患者的OCT图像特征,并与眼底特征、眼底荧光血管造影进行对照分析.结果 卵黄样病变期患者眼底检查可见黄斑区卵圆形隆起病灶,OCT可见视网膜色素上皮层和光感受器层之间有一中等密度反射区域,随病变进展,沉积物厚度增高.萎缩期患者黄斑区见萎缩灶,OCT表现为视网膜色素上皮层脉络膜复合体弥漫性增厚,神经感觉层变薄,合并脉络膜新生血管形成时可见高反射的新生血管膜.结论 详细的病史资料、眼底检查、眼底荧光血管造影以及OCT的联合应用,有助于更科学的分析卵黄样黄斑营养不良的临床特征和病理改变.

  18. Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy

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    Midura, R.J.; Hascall, V.C.; MacCallum, D.K.; Meyer, R.F.; Thonar, E.J.; Hassell, J.R.; Smith, C.F.; Klintworth, G.K. (National Institute of Dental Research, Bethesda, MD (USA))

    1990-09-15

    Corneal buttons were obtained from patients with types 1 and 2 macular corneal dystrophy (MCD) and from control patients with Fuchs' dystrophy or keratoconus. Buttons were incubated for 20 h in the presence of (3H)glucosamine or (2-3H)mannose. Radiolabeled proteoglycans and lactosaminoglycan-glycoproteins (L-GPs) were purified using chromatography on Q-Sepharose, Superose 6, and octyl-Sepharose. They were identified using chondroitinase ABC, keratanase or endo-beta-galactosidase digestion, and sodium dodecyl sulfate-polyacrylamide gel electrophoresis or Superose 6 chromatography. This study confirms previous reports that type 1 MCD corneas synthesize a normal dermatan sulfate-proteoglycan (DS-PG) and an abnormal keratan sulfate-proteoglycan (KS-PG). The data indicate that typ 1 MCD corneas synthesize L-GP instead of KS-PG. This L-GP has a core protein of similar hydrophobicity (elution from octyl-Sepharose) and nearly similar mass (42 kDa) as the core protein of the KS-PG. It has identical glycoconjugates as those of the KS-PG except that they lack sulfate. Thus, type 1 MCD fails to synthesize keratan sulfate as a result of a defect in a sulfotransferase specific for sulfating lactosaminoglycans. Further, proteoglycans synthesized by a cornea from a patient with type 2 MCD were studied. This cornea synthesized a normal ratio of KS-PG to DS-PG although net synthesis of proteoglycans was approximately 30% below normal. The KS-PG appeared normal whereas the DS-PG had dermatan sulfate chains that were approximately 40% shorter than normal.

  19. Follow-up of a Case of Vitelliform Macular Dystrophy Over an 8-year Period

    Institute of Scientific and Technical Information of China (English)

    Shizhou Huang; Lezheng Wu; Feng Wen; Guangwei Luo; Futian Jiang

    2014-01-01

    Purpose: To show the follow-up of a case of vitelliform mac-ular dystrophy with morphological and visual functional tests over an 8-year period. Methods:.Retrospective review of medical records..The mor-phological examination included color photography,.fluores-cein angiography, and ocular coherence tomography (OCT). The visual functional tests included visual acuity, electro-ocu-logram (EOG) and multifocal electroretinography (mfERG). The patient was observed for 8 years, from 2003 to 2011. Results:.During the follow-up,.the improvement of sensory retinal detachment and reduction of yellow-white deposit were observed with color photography and fluorescein angiography. OCT revealed a decrease in sensory retinal detachment and subretinal hyper-reflective deposits; both of these morphologi-cal changes were correspondent. Visual acuity was maintained throughout the follow-up..The Arden ratio of EOG was de-creased. The amplitudes of mfERG were decreased but slightly increased during the follow-up. Conclusion:.The retinal morphological changes and visual function slightly improved in this case of vitelliform macu-lopathy. The prognosis is good. (Eye Science 2014; 29:165-169)

  20. Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies

    Institute of Scientific and Technical Information of China (English)

    Ya-nan HUO; Yu-feng YAO; Ping YU

    2011-01-01

    Objective:To investigate gene mutations associated with three different types of corneal dystrophies (CDs),and to establish a phenotype-genotype correlation.Methods:Two patients with Avellino corneal dystrophy (ACD),four patients with lattice corneal dystrophy type Ⅰ (LCD Ⅰ) from one family,and three patients with macular corneal dystrophy type Ⅰ (MCD Ⅰ) were subjected to both clinical and genetic examinations.Slit lamp examination was performed for all the subjects to assess their corneal phenotypes.Genomic DNA was extracted from peripheral blood leukocytes.The coding regions of the human transforming growth factor β-induced (TGFB/)gene and carbohydrate sulfotransferase 6 (CHST6) gene were amplified by polymerase chain reaction (PCR) and subjected to direct sequencing.DNA samples from 50 healthy volunteers were used as controls.Results:Clinical examination showed three different phenotypes of CDs.Genetic examination identified that two ACD subjects were associated with homozygous R124H mutation of TGFB/,and four LCD Ⅰ subjects were all associated with R124C heterozygous mutation.One MCD Ⅰ subject was associated with a novel S51X homozygous mutation in CHST6,while the other two MCD Ⅰ subjects harbored a previously reported W232X homozygous mutation.Conclusions:Our study highlights the prevalence of codon 124 mutations in the TGFB/gene among the Chinese ACD and LCD Ⅰ patients.Moreover,we found a novel mutation among MCD Ⅰ patients.

  1. Correlation Between the Findings of Optical Coherent Retinal Tomography (OCT), Stereo Biomicroscopic Images from Fundus of an Eye and Values from Visual Acuity of Diabetic Macular Edema

    Science.gov (United States)

    Nisic, Faruk; Turkovic, Samir; Mavija, Milka; Jovanovic, Nina; Alimanovic, Emina Halilovic-

    2014-01-01

    Introduction: Diabetic maculopathy is the major cause of reduced visual acuity in patients with non-proliferative diabetic retinopathy and occurs on average in 29% of patients who have diabetes for 20 or more years. Aim: The aim of this study is to re examine the correlation between the findings of optical coherence retinal tomography, stereo bio-microscopic images from fundus of an eye and values from visual acuity of diabetic macular edema. In addition, the aim is to show the importance of various ophthalmic tests for establishing diagnosis in time. Material and methods: The research sample consisted of 90 subjects-patients from Cabinet for photographic documentation, fluorescein angiography and laser photocoagulation in Department of Ophthalmology at the University Clinical Centre in Sarajevo. The study was a one-year long, prospective, clinical study. Results: Research has shown a positive correlation between the various tests that are applied for the diagnosis of diabetic macular edema. Accurate and early diagnosis is of great importance for the treatment in time of this disease by applying laser photocoagulation, intravitreal injections of Anti-VEGF drugs or surgical treatment by Pars Plana Vitrectomy. PMID:25395723

  2. A hybrid segmentation approach for geographic atrophy in fundus auto-fluorescence images for diagnosis of age-related macular degeneration.

    Science.gov (United States)

    Lee, Noah; Laine, Andrew F; Smith, R Theodore

    2007-01-01

    Fundus auto-fluorescence (FAF) images with hypo-fluorescence indicate geographic atrophy (GA) of the retinal pigment epithelium (RPE) in age-related macular degeneration (AMD). Manual quantification of GA is time consuming and prone to inter- and intra-observer variability. Automatic quantification is important for determining disease progression and facilitating clinical diagnosis of AMD. In this paper we describe a hybrid segmentation method for GA quantification by identifying hypo-fluorescent GA regions from other interfering retinal vessel structures. First, we employ background illumination correction exploiting a non-linear adaptive smoothing operator. Then, we use the level set framework to perform segmentation of hypo-fluorescent areas. Finally, we present an energy function combining morphological scale-space analysis with a geometric model-based approach to perform segmentation refinement of false positive hypo- fluorescent areas due to interfering retinal structures. The clinically apparent areas of hypo-fluorescence were drawn by an expert grader and compared on a pixel by pixel basis to our segmentation results. The mean sensitivity and specificity of the ROC analysis were 0.89 and 0.98%.

  3. MUTATIONS IN CORNEAL CARBOHYDRATE SULFOTRANSFERASE 6 GENE (CHST6 IN IRANIAN MACULAR CORNEAL DYSTROPHY (MCD PATIENTS: A REPORT OF 7 PATIENTS FROM IRAN

    Directory of Open Access Journals (Sweden)

    Mitra ATAEI

    2010-10-01

    Full Text Available ObjectiveMacular Corneal Dystrophy (MCD is a rare autosomal recessive disorder affecting the stroma of cornea. Most cases of MCD are caused by mutations in CHST6 gene. The aim of this study was to determine mutations in the carbohydrate sulfotransferase 6 gene (CHST6 through genetic analysis of 7 Iranian patients with MCD.Materials & MethodsWe screened the CHST6 gene to determine the range of pathogenic mutations. Genomic DNA was extracted from peripheral blood leukocytes. The coding regions of the CHST6 gene were amplified using three pairs of primers, and directly sequenced in the final step.ResultsFour mutations were found to affect the translated protein and each of them corresponded to a particular disease haplotype that has been previously reported.Keywords:Macular Corneal Dystrophy (MCD, Iranian Patients, Carbohydrate Sulfotransferase 6 Gene (CHST6

  4. Automated Brightness and Contrast Adjustment of Color Fundus Photographs for the Grading of Age-Related Macular Degeneration

    Science.gov (United States)

    Tsikata, Edem; Laíns, Inês; Gil, João; Marques, Marco; Brown, Kelsey; Mesquita, Tânia; Melo, Pedro; da Luz Cachulo, Maria; Kim, Ivana K.; Vavvas, Demetrios; Murta, Joaquim N.; Miller, John B.; Silva, Rufino; Miller, Joan W.; Chen, Teresa C.; Husain, Deeba

    2017-01-01

    Purpose The purpose of this study was to develop an algorithm to automatically standardize the brightness, contrast, and color balance of digital color fundus photographs used to grade AMD and to validate this algorithm by determining the effects of the standardization on image quality and disease grading. Methods Seven-field color photographs of patients (>50 years) with any stage of AMD and a control group were acquired at two study sites, with either the Topcon TRC-50DX or Zeiss FF-450 Plus cameras. Field 2 photographs were analyzed. Pixel brightness values in the red, green, and blue (RGB) color channels were adjusted in custom-built software to make the mean brightness and contrast of the images equal to optimal values determined by the Age-Related Eye Disease Study (AREDS) 2 group. Results Color photographs of 370 eyes were analyzed. We found a wide range of brightness and contrast values in the images at baseline, even for those taken with the same camera. After processing, image brightness variability (brightest image–dimmest image in a color channel) was reduced 69-fold, 62-fold, and 96-fold for the RGB channels. Contrast variability was reduced 6-fold, 8-fold, and 13-fold, respectively, after adjustment. Of the 23% images considered nongradable before adjustment, only 5.7% remained nongradable. Conclusions This automated software enables rapid and accurate standardization of color photographs for AMD grading. Translational Relevance This work offers the potential to be the future of assessing and grading AMD from photos for clinical research and teleimaging.

  5. Cone rod dystrophies

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    Hamel Christian P

    2007-02-01

    Full Text Available Abstract Cone rod dystrophies (CRDs (prevalence 1/40,000 are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP, also called the rod cone dystrophies (RCDs resulting from the primary loss in rod photoreceptors and later followed by the secondary loss in cone photoreceptors, CRDs reflect the opposite sequence of events. CRD is characterized by primary cone involvement, or, sometimes, by concomitant loss of both cones and rods that explains the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central visual field, later followed by progressive loss in peripheral vision and night blindness. The clinical course of CRDs is generally more severe and rapid than that of RCDs, leading to earlier legal blindness and disability. At end stage, however, CRDs do not differ from RCDs. CRDs are most frequently non syndromic, but they may also be part of several syndromes, such as Bardet Biedl syndrome and Spinocerebellar Ataxia Type 7 (SCA7. Non syndromic CRDs are genetically heterogeneous (ten cloned genes and three loci have been identified so far. The four major causative genes involved in the pathogenesis of CRDs are ABCA4 (which causes Stargardt disease and also 30 to 60% of autosomal recessive CRDs, CRX and GUCY2D (which are responsible for many reported cases of autosomal dominant CRDs, and RPGR (which causes about 2/3 of X-linked RP and also an undetermined percentage of X-linked CRDs. It is likely that highly deleterious mutations in genes that otherwise cause RP or macular dystrophy may also lead to CRDs. The diagnosis of CRDs is based on clinical history, fundus examination and electroretinogram. Molecular diagnosis can be made for some genes, genetic counseling is

  6. The Minnesota Grading System Using Fundus Autofluorescence of Eye Bank Eyes: A Correlation To Age-Related Macular Degeneration (An AOS Thesis)

    Science.gov (United States)

    Olsen, Timothy W.

    2008-01-01

    Purpose To establish a grading system of eye bank eyes using fundus autofluorescence (FAF) and identify a methodology that correlates FAF to age-related macular degeneration (AMD) with clinical correlation to the Age-Related Eye Disease Study (AREDS). Methods Two hundred sixty-two eye bank eyes were evaluated using a standardized analysis of FAF. Measurements were taken with the confocal scanning laser ophthalmoscope (cSLO). First, high-resolution, digital, stereoscopic, color images were obtained and graded according to AREDS criteria. With the neurosensory retina removed, mean FAF values were obtained from cSLO images using software analysis that excludes areas of atrophy and other artifact, generating an FAF value from a grading template. Age and AMD grade were compared to FAF values. An internal fluorescence reference standard was tested. Results Standardization of the cSLO machine demonstrated that reliable data could be acquired after a 1-hour warm-up. Images obtained prior to 1 hour had falsely elevated levels of FAF. In this initial analysis, there was no statistical correlation of age to mean FAF. There was a statistically significant decrease in FAF from AREDS grade 1, 2 to 3, 4 (P < .0001). An internal fluorescent standard may serve as a quantitative reference. Conclusions The Minnesota Grading System (MGS) of FAF (MGS-FAF) establishes a standardized methodology for grading eye bank tissue to quantify FAF compounds in the retinal pigment epithelium and correlate these findings to the AREDS. Future studies could then correlate specific FAF to the aging process, histopathology AMD phenotypes, and other maculopathies, as well as to analyze the biochemistry of autofluorescent fluorophores. PMID:19277247

  7. North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

    Science.gov (United States)

    Sullivan, Lori S.; Wheaton, Dianna K.; Locke, Kirsten G.; Jones, Kaylie D.; Koboldt, Daniel C.; Fulton, Robert S.; Wilson, Richard K.; Blanton, Susan H.; Birch, David G.; Daiger, Stephen P.

    2016-01-01

    Purpose To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD). Methods A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations. Blood or saliva from six affected family members and three unaffected spouses was collected and DNA tested for linkage to the MCDR1 locus on chromosome 6q12. Three affected family members and two unaffected spouses underwent whole exome sequencing (WES) and subsequently, custom capture of the linkage region followed by next-generation sequencing (NGS). Standard PCR and dideoxy sequencing were used to further characterize the mutation. Results Of the 12 eyes examined in six affected individuals, all but two had Gass grade 3 macular degeneration features. Large central excavation of the retinal and choroid layers, referred to as a macular caldera, was seen in an age-independent manner in the grade 3 eyes. The calderas are unique to affected individuals with MCDR1. Genome-wide linkage mapping and haplotype analysis of markers from the chromosome 6q region were consistent with linkage to the MCDR1 locus. Whole exome sequencing and custom-capture NGS failed to reveal any rare coding variants segregating with the phenotype. Analysis of the custom-capture NGS sequencing data for copy number variants uncovered a tandem duplication of approximately 60 kb on chromosome 6q. This region contains two genes, CCNC and PRDM13. The duplication creates a partial copy of CCNC and a complete copy of PRDM13. The duplication was found in all affected members of the family and is not present in any unaffected members. The duplication was not seen in 200 ethnically matched normal chromosomes. Conclusions The cause of disease in the original family with MCDR1 and several others has been recently reported to be dysregulation of the PRDM13 gene, caused by either single base substitutions in a DNase 1

  8. Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy.

    Science.gov (United States)

    Sodi, Andrea; Murro, Vittoria; Caporossi, Orsola; Passerini, Ilaria; Bacci, Giacomo Maria; Caputo, Roberto; Menchini, Ugo

    2015-06-01

    To report long-term results of photodynamic therapy (PDT) in young patients affected by Best vitelliform macular dystrophy (VMD) complicated by choroidal neovascularization (CNV). We evaluated a group of 30 VMD patients with confirmed mutations in the BEST1 gene. Five of these patients had been diagnosed with CNV when younger than 15 years of age and three of them were treated by PDT. After the treatment they were followed for an average period of 77 months (range 62-99). In all the treated eyes visual acuity was stable during the first year of follow-up and then slowly improved even some years after the treatment. The improvement in visual acuity was associated with the development of fibrous tissue in the macula. PDT was a safe procedure in our series of pediatric patients with VMD complicated by CNV. It was followed by a CNV regression and a consequent improvement in visual acuity which continued to progress even several years after the treatment.

  9. Distrofia macular cristalina em paciente com síndrome de Sjögren-Larsson: relato de caso Macular crystalline dystrophy in Sjögren-Larsson syndrome: case report

    Directory of Open Access Journals (Sweden)

    David Leonardo Cruvinel Isaac

    2009-04-01

    Full Text Available Apresentação de um caso de distrofia macular cristalina em paciente do sexo feminino com síndrome de Sjögren-Larsson. A doença caracteriza-se pela tríade: ictiose congênita, diplegia ou tetraplegia espástica e retardo mental. Os olhos são acometidos em até 100% dos casos sendo característica a presença de maculopatia cristalina como observado na paciente relatada. À fundoscopia observou-se a presença de depósitos esbranquiçados perifoveais. A tomografia de coerência óptica evidenciou pontos hiper-reflexivos correspondentes aos depósitos intrarretinianos, atrofia macular com redução na espessura macular em ambos os olhos. Os achados relacionados à síndrome, à tomografia de coerência óptica foram apresentados de maneira inédita em nosso meio.Presentation of a case of crystalline macular distrophy diagnosed in a female patient with Sjögren-Larsson syndrome. The disease consists of clinical findings of spastic diplegia or tetraplegia, mental retardation, and congential ichthyosis. The eyes are affected in up to 100% of cases, and crystalline maculopathy is the main finding as described in this case report. On fundus examination multiple white dots were observed at ophthalmoscopy. The optical coherence tomography has shown not only the hipereflexive intraretinal spots but also macular atrophy with macular thickness reduction. The tomographic findings were first described in our country.

  10. The fundus slit lamp.

    Science.gov (United States)

    Gellrich, Marcus-Matthias

    2015-01-01

    Fundus biomicroscopy with the slit lamp as it is practiced widely nowadays was not established until the 1980-es with the introduction of the Volk lenses +90 and +60D. Thereafter little progress has been made in retinal imaging with the slit lamp. It is the aim of this paper to fully exploit the potential of a video slit lamp for fundus documentation by using easily accessible additions. Suitable still images are easily retrieved from videorecordings of slit lamp examinations. The effects of changements in the slit lamp itself (slit beam and apertures) and its examination equipment (converging lenses from +40 to +90D) on quality and spectrum of fundus images are demonstrated. Imaging software is applied for reconstruction of larger fundus areas in a mosaic pattern (Hugin®) and to perform the flicker test in order to visualize changes in the same fundus area at different points of time (Power Point®). The three lenses +90/+60/+40D are a good choice for imaging the whole spectrum of retinal diseases. Displacement of the oblique slit light can be used to assess changes in the surface profile of the inner retina which occurs e.g. in macular holes or pigment epithelial detachment. The mosaic function in its easiest form (one strip macula adapted to one strip with the optic disc) provides an overview of the posterior pole comparable to a fundus camera's image. A reconstruction of larger fundus areas is feasible for imaging in vitreoretinal surgery or occlusive vessel disease. The flicker test is a fine tool for monitoring progressive glaucoma by changes in the optic disc, and it is also a valuable diagnostic tool in macular disease. Nearly all retinal diseases can be imaged with the slit lamp - irrespective whether they affect the posterior pole, mainly the optic nerve or the macula, the whole retina or only its periphery. Even a basic fundus controlled perimetry is possible. Therefore fundus videography with the slit lamp is a worthwhile approach especially for the

  11. Pattern Dystrophy of the Macula in a Case of Steinert Disease

    Directory of Open Access Journals (Sweden)

    Filipe Esteves

    2013-09-01

    Full Text Available Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes. Case Report: A 41-year-old female with type 1 myotonic dystrophy complained of progressive vision loss. Slit lamp examination revealed the presence of typical bilateral polychromatic cataract with posterior subcapsular component. Dilated fundus examination was remarkable for bilateral macular depigmented changes. Multimodal imaging analysis of the macula suggested the presence of a butterfly-shaped pattern dystrophy. Discussion: In cases of myotonic dystrophies it is of great relevance to analyze the presence of retinal changes that might limit the visual improvement following cataract extraction.

  12. Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation.

    Science.gov (United States)

    Sánchez-Gutiérrez, V; García-Montesinos, J; Pardo-Muñoz, A

    2016-05-01

    Two sisters of 54 and 60years old, with a history of diabetes and deafness, consulted for decreased visual acuity (VA). Funduscopic examination revealed patchy areas of chorioretinal atrophy with annular arrangement around the fovea. Genetic study identified the heteroplasmic mutation 3243A>G in mitochondrial DNA, which supports syndrome maternally inherited diabetes and deafness (MIDD) or Ballinger-Wallace disease. The finding of such macular disorders, especially in the presence of diabetes mellitus and deafness, should suggest the performing of a mitochondrial genome screening to identify this unusual syndrome. Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  13. Descrição de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos New macular dystrophy associated with loose anagen hair syndrome

    Directory of Open Access Journals (Sweden)

    Mário Teruo Sato

    2002-03-01

    Full Text Available Objetivos: Descrever os achados oftalmológicos, dermatológicos e de microscopia óptica (MO e microscopia eletrônica de varredura (MEV de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos (SCAF. Métodos: Uma família de sete pacientes, quatro deles afetados, foi examinada. Os pacientes foram submetidos ao exame oftalmológico completo, teste de cores (Ishihara e Farnsworth D-15, ecografia, angiografia, exames laboratoriais e dermatológico, teste do suor, microscopia óptica e microscopia eletrônica de varredura dos fios de cabelo. Resultados: Em duas irmãs afetadas encontramos no fundo de olho dispersões pigmentares em pólo posterior da retina, com estafiloma da mácula. Em dois irmãos foram encontradas as mesmas dispersões pigmentares em pólo posterior, com maior pigmentação e coloração amarelada em área macular e sem estafiloma. A avaliação na microscopia óptica e microscopia eletrônica de varredura dos indivíduos afetados confirmou a SCAF. Em uma mulher e em um homem não afetados todos os exames foram normais, exceto que na MO e MEV encontramos algumas semelhanças com os indivíduos afetados. Quanto ao modo de herança, o heredograma é compatível com herança autossômica recessiva com expressão parcial no heterozigoto. Conclusões: Há somente um relato na literatura internacional da associação de SCAF e coloboma ocular. Neste trabalho descrevemos os achados de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos, distrofia cujos achados fundoscópicos são diferentes entre homens e mulheres. Por se tratar do primeiro relato na literatura, os achados descritos sugerem fortemente que esta associação pode ser parte de uma nova entidade nosológica.Purpose: To describe the ophthalmological, dermatological, light microscopy (LM and scanning electron microscopy (SEM findings of a new macular dystrophy associated with the loose anagen hair syndrome (LAHS. Methods: A

  14. MUTATIONS IN CORNEAL CARBOHYDRATE SULFOTRANSFERASE 6 GENE (CHST6 IN IRANIAN MACULAR CORNEAL DYSTROPHY (MCD PATIENTS: A REPORT OF 7 PATIENTS FROM IRAN

    Directory of Open Access Journals (Sweden)

    HOUSHMAND Massoud MD

    2010-09-01

    Full Text Available AbstractObjectiveMacular Corneal Dystrophy (MCD is a rare autosomal recessive disorder affecting the stroma of cornea. Most cases of MCD are caused by mutations in CHST6 gene. The aim of this study was to determine mutations in the carbohydrate sulfotransferase 6 gene (CHST6 through genetic analysis of 7 Iranian patients with MCD.Materials & MethodsWe screened the CHST6 gene to determine the range of pathogenic mutations. Genomic DNA was extracted from peripheral blood leukocytes. The coding regions of the CHST6 gene were amplified using three pairs of primers, and directly sequenced in the final step.ResultsFour mutations were found to affect the translated protein and each of them corresponded to a particular disease haplotype that has been previously reported

  15. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

    Science.gov (United States)

    Davidson, Alice E; Sergouniotis, Panagiotis I; Mackay, Donna S; Wright, Genevieve A; Waseem, Naushin H; Michaelides, Michel; Holder, Graham E; Robson, Anthony G; Moore, Anthony T; Plagnol, Vincent; Webster, Andrew R

    2013-03-01

    In one consanguineous family with retinitis pigmentosa (RP), a condition characterized by progressive visual loss due to retinal degeneration, homozygosity mapping, and candidate gene sequencing suggested a novel locus. Exome sequencing identified a homozygous frameshifting mutation, c.601delG, p.Lys203Argfs*28, in RP1L1 encoding RP 1-like1, a photoreceptor-specific protein. A screen of a further 285 unrelated individuals with autosomal recessive RP identified an additional proband, homozygous for a missense variant, c.1637G>C, p.Ser546Thr, in RP1L1. A distinct retinal disorder, occult macular dystrophy (OCMD) solely affects the central retinal cone photoreceptors and has previously been reported to be associated with variants in the same gene. The association between mutations in RP1L1 and the disorder OCMD was explored by screening a cohort of 28 unrelated individuals with the condition; 10 were found to harbor rare (minor allele frequency ≤0.5% in the 1,000 genomes dataset) heterozygous RP1L1 missense variants. Analysis of family members revealed many unaffected relatives harboring the same variant. Linkage analysis excluded the possibility of a recessive mode of inheritance, and sequencing of RP1, a photoreceptor protein that interacts with RP1L1, excluded a digenic mechanism involving this gene. These findings imply an important and diverse role for RP1L1 in human retinal physiology and disease.

  16. Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

    Science.gov (United States)

    2016-08-26

    Myotonic Dystrophy; Facioscapulohumeral Muscular Dystrophy; Muscular Dystrophy; Myotonic Dystrophy Type 1; Myotonic Dystrophy Type 2; Congenital Myotonic Dystrophy; PROMM (Proximal Myotonic Myopathy); Steinert's Disease; Myotonic Muscular Dystrophy

  17. High-resolution meiotic and physical mapping of the Best`s vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11

    Energy Technology Data Exchange (ETDEWEB)

    Weber, B.H.F.; Vogt, G. [Institut fuer Humangenetik, Wuerzburg (Germany); Walker, D. [UBC, Vancouver (Canada)] [and others

    1994-09-01

    Vitelliform macular dystrophy, also known as Best`s disease, is a juvenile-onset macular degeneration with autosomal dominant inheritance. It is characterized by well-demarcated accumulation of lipofuscin-like material within and beneath the retinal pigment epithelium (RPE) and classically results in an egg yolk-like appearance of the macula. Typically, carriers of the disease gene show a specific electrophysiological sign which can be detected by electrooculography (EOG). The EOG measures a standing potential between the cornea and the retina which is primarily generated by the RPE. The histopathological findings as well as the EOG abnormalities suggest that Best`s disease is a generalized disorder of the RPE. The basic biochemical defect is still unknown. As a first step in the positional cloning of the defective gene, the Best`s disease locus was mapped to chromosome 11 between markers at D11S871 and INT2. Subsequently, his region was refined to a 3.7 cM interval flanked by loci D11S903 and PYGM. To further narrow the D11S903-PYGM interval and to obtain an estimate of the physical size of the minimal candidate region, we used a combination of high-resolution PCR hybrid mapping and analysis of recombinant Best`s disease chromosomes. We identified six markers from within the D11S903-PYGM interval that show no recombination with the defective gene in three multigeneration Best`s disease pedigrees. Our hybrid panel localizes these markers on either side of the centromere on chromosome 11. The closest markers flanking the disease gene are at D11S986 in band p12-11.22 and at D11S480 in band q13.2-13.3. Our study demonstrates that the physical size of the Best`s disease region is exceedingly larger than was previously estimated from the genetic data due to the proximity of the defective gene to the centromere of chromosome 11.

  18. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

    NARCIS (Netherlands)

    Estrada-Cuzcano, A.; Neveling, K.; Kohl, S.; Banin, E.; Rotenstreich, Y.; Sharon, D.; Falik-Zaccai, T.C.; Hipp, S.; Roepman, R.; Wissinger, B.; Letteboer, S.J.F.; Mans, D.A.; Blokland, E.A.W.; Kwint, M.P.; Gijsen, S.J.; Huet, R.A.C. van; Collin, R.W.J.; Scheffer, H.; Veltman, J.A.; Zrenner, E.; Hollander, A.I. den; Klevering, B.J.; Cremers, F.P.M.

    2012-01-01

    Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together

  19. [Heterotopic fundus (author's transl)].

    Science.gov (United States)

    Denden, A

    1976-07-01

    Fundus heterotopicus is the term used to describe a rare, non-hereditary curvature anomaly of the fundus in the non-myopic eye, which is characterized: 1. functionally, by a slowly increasing myopic-astigmatic refractive error, 2. by correctable bitemporal or binasal refractionscomata and 3. ophthalmoscopically by a posterior out-pouching of the nasal or temporal fundus portions, and including the optic disc and macula in the obliquely descending wall of the extasis.

  20. Cystoid Macular Edema in Bietti's Crystalline Retinopathy

    Directory of Open Access Journals (Sweden)

    Ali Osman Saatci

    2014-01-01

    Full Text Available A 27-year-old man with progressive bilateral visual decline was diagnosed to have Bietti's crystalline dystrophy (BCD. Fluorescein angiography revealed bilateral petaloid type late hyperfluorescence implicating concurrent cystoid macular edema (CME. Optical coherence tomography exhibited cystoid foveal lacunas OU. During the follow-up of six years, intraretinal crystals reduced in amount but CME persisted angiographically and tomographically. CME is among the rare macular features of BCD including subfoveal sensorial detachment, subretinal neovascular membrane, and macular hole.

  1. Fundus changes in central retinal vein occlusion.

    Science.gov (United States)

    Hayreh, Sohan Singh; Zimmerman, M Bridget

    2015-01-01

    To investigate systematically the retinal and optic disk changes in central retinal vein occlusion (CRVO) and their natural history. This study comprised 562 consecutive patients with CRVO (492 nonischemic [NI-CRVO] and 89 ischemic CRVO [I-CRVO] eyes) seen within 3 months of onset. Ophthalmic evaluation at initial and follow-up visits included recording visual acuity, visual fields, and detailed anterior segment and fundus examinations and fluorescein fundus angiography. Retinal and subinternal limiting membrane hemorrhages and optic disk edema in I-CRVO were initially more marked (P retinal epithelial pigment degeneration, serous macular detachment, and retinal perivenous sheathing developed at a higher rate in I-CRVO than that in NI-CRVO (P retinal venous engorgement than NI-CRVO (P = 0.003). Fluorescein fundus angiography showed significantly more fluorescein leakage, retinal capillary dilatation, capillary obliteration, and broken capillary foveal arcade (P < 0.0001) in I-CRVO than NI-CRVO. Resolution time of CRVO was longer for I-CRVO than NI-CRVO (P < 0.0001). Characteristics and natural history of fundus findings in the two types of CRVO are different.

  2. Interocular agreement in melanin and macular pigment optical density.

    NARCIS (Netherlands)

    Kanis, M.J.; Berendschot, T.T.J.M.; van Norren, D.

    2007-01-01

    Macular pigment (MP) and melanin possibly protect the macular area by absorbing blue light and acting as antioxidants. Because little is known about the interocular correlation of melanin, we determined its optical density (MOD) in both eyes of healthy subjects using fundus reflectometry. The measur

  3. Precursors of Age-Related Macular Degeneration

    DEFF Research Database (Denmark)

    Munch, Inger Christine; Linneberg, Allan; Larsen, Michael

    2013-01-01

    by questionnaire. Digital grayscale fundus photographs were recorded in red-free illumination and graded for the presence of macular drusen >63µm in either eye and the presence of 20 or more small, hard macular drusen as a mean of both eyes. RESULTS: Macular drusen >63µm were associated with the level of physical...... macular drusen per eye. These findings support that a physically active, heart-healthy lifestyle prevents the earliest manifestation of AMD.......PURPOSE: To investigate associations of small, hard macular drusen and larger macular drusen with obesity-related risk factors. METHODS: Cross-sectional study of 888 subjects aged 30-60 years characterized using anthropometric measurements and blood sample analyses. Physical activity was assessed...

  4. Avaliação da autofluorescência do fundo de olho nas distrofias de retina com o aparelho Heidelberg Retina Angiograph2 Evaluation of fundus autofluorescence in hereditary retinal diseases using Heidelberg Retina Angiograph2

    Directory of Open Access Journals (Sweden)

    Monique Côco

    2007-10-01

    Full Text Available OBJETIVOS: Definir características do exame de autofluorescência, verificando sua utilidade no diagnóstico e acompanhamento de distrofias retinianas. MÉTODOS: Participaram do estudo, 28 pacientes, adultos, divididos igualmente em quatro grupos com diagnósticos de doença de Stargardt, distrofia de Cones, retinose pigmentar e voluntários saudáveis para estabelecimento do padrão de normalidade. Em média foram obtidas nove imagens com o filtro para angiofluoresceinografia para a formação da imagem autofluorescente no Heidelberg Retina Angiograph2. As imagens de cada grupo de pacientes foram analisadas para verificar características comuns. RESULTADOS: As imagens fundoscópicas autofluorescentes dos voluntários do grupo controle mostraram área foveal hipoautofluorescente em relação à retina do pólo posterior. As imagens dos portadores de doença de Stargardt, em geral, apresentaram lesão hipoautofluorescente, correspondendo à área macular. As principais alterações da autofluorescência em pacientes com distrofia de cones foram hipoautofluorescência macular com halo hiperautofluorescente. Nos portadores de retinose pigmentar, foram encontrados pigmentos periféricos causando hipoautofluorescência. Na região macular, hipoautofluorescência ou apenas desorganização do pigmento. CONCLUSÃO: O estudo mostrou a existência de padrões de autofluorescência de fundo nas distrofias de retina que permitem o diagnóstico e melhor interpretação da fisiopatogenia destas doenças.PURPOSE: To define characteristics of the fundus autofluorescence examination, verifying usefulness in the diagnosis and care of hereditary retinal diseases. METHODS: 28 patients, adults, divided equally into four groups with diagnoses of Stargardt macular dystrophy, cone dystrophy, retinitis pigmentosa and healthy volunteers for the establishment of the normality pattern. An average of nine images with the filter for fluorescein angiography was obtained

  5. Interactive segmentation for geographic atrophy in retinal fundus images

    OpenAIRE

    Lee, Noah; SMITH, R. THEODORE; Laine, Andrew F.

    2008-01-01

    Fundus auto-fluorescence (FAF) imaging is a non-invasive technique for in vivo ophthalmoscopic inspection of age-related macular degeneration (AMD), the most common cause of blindness in developed countries. Geographic atrophy (GA) is an advanced form of AMD and accounts for 12–21% of severe visual loss in this disorder [3]. Automatic quantification of GA is important for determining disease progression and facilitating clinical diagnosis of AMD. The problem of automatic segmentation of patho...

  6. Image analysis of ocular fundus for retinopathy characterization

    Energy Technology Data Exchange (ETDEWEB)

    Ushizima, Daniela; Cuadros, Jorge

    2010-02-05

    Automated analysis of ocular fundus images is a common procedure in countries as England, including both nonemergency examination and retinal screening of patients with diabetes mellitus. This involves digital image capture and transmission of the images to a digital reading center for evaluation and treatment referral. In collaboration with the Optometry Department, University of California, Berkeley, we have tested computer vision algorithms to segment vessels and lesions in ground-truth data (DRIVE database) and hundreds of images of non-macular centric and nonuniform illumination views of the eye fundus from EyePACS program. Methods under investigation involve mathematical morphology (Figure 1) for image enhancement and pattern matching. Recently, we have focused in more efficient techniques to model the ocular fundus vasculature (Figure 2), using deformable contours. Preliminary results show accurate segmentation of vessels and high level of true-positive microaneurysms.

  7. Corneal Topography Analysis of Stromal Corneal Dystrophies

    OpenAIRE

    Kocluk, Yusuf; Yalniz-Akkaya, Zuleyha; Burcu, Ayse; Ornek, Firdevs

    2015-01-01

    Objective: The aim was to compare the corneal topography and tomography parameters of macular corneal dystrophy (MCD), granular corneal dystrophy (GCD) and lattice corneal dystrophy (LCD) patients obtained by Scheimpflug imaging system. Methods: The charts, photographs and topography images of patients were reviewed retrospectively. This study included 73 eyes of 73 patients (28 MCD, 20 GCG and 25 LCD patients). Topography images were obtained by Pentacam (Oculus Optikgerate, Wetzlar, Germany...

  8. Muscular Dystrophy

    Science.gov (United States)

    ... Devices The Search for a Cure en español Distrofia muscular About MD Muscular dystrophy (MD) is a genetic ... muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the most ...

  9. Muscular Dystrophy

    Science.gov (United States)

    ... Devices The Search for a Cure en español Distrofia muscular About MD Muscular dystrophy (MD) is a ... muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the ...

  10. Corneal stromal dystrophies: a clinical pathologic study

    Directory of Open Access Journals (Sweden)

    Elvira Barbosa Abreu

    2012-12-01

    Full Text Available INTRODUCTION: Corneal dystrophy is defined as bilateral and symmetric primary corneal disease, without previous associated ocular inflammation. Corneal dystrophies are classified according to the involved corneal layer in superficial, stromal, and posterior dystrophy. Incidence of each dystrophy varies according to the geographic region studied. PURPOSE: To evaluate the prevalence of stromal corneal dystrophies among corneal buttons specimens obtained by penetrating keratoplasty (PK in an ocular pathology laboratory and to correlate the diagnosis with patient age and gender. METHODS: Corneal button cases of penetrating keratoplasty from January-1996 to May-2009 were retrieved from the archives of The Henry C. Witelson Ophthalmic Pathology Laboratory and Registry, Montreal, Canada. The cases with histopathological diagnosis of stromal corneal dystrophies were stained with special stains (Peroxid acid Schiff, Masson trichrome, Congo red analyzed under polarized light, and alcian blue for classification and correlated with epidemiological information (age at time of PK and gender from patients' file. RESULTS: 1,300 corneal buttons cases with clinical diagnose of corneal dystrophy were retrieved. Stromal corneal dystrophy was found in 40 (3.1% cases. Lattice corneal dystrophy was the most prevalent with 26 cases (65%. Nineteen were female (73.07% and the PK was performed at average age of 59.3 years old. Combined corneal dystrophy was found in 8 (20% cases, 5 (62.5% of them were female and the average age of the penetrating keratoplasty was 54.8 years old. Granular corneal dystrophy was represented by 5 (12.5% cases, and 2 (40% of them were female. Penetrating keratoplasty was performed at average age of 39.5 years old in granular corneal dystrophy cases. Macular corneal dystrophy was present in only 1 (2.5% case, in a 36 years old female. CONCLUSION: Systematic histopathological approach and evaluation, including special stains in all stromal

  11. Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies?

    Science.gov (United States)

    Saad, Leonide; Washington, Ilyas

    2016-01-01

    We discuss how an imperfect visual cycle results in the formation of vitamin A dimers, thought to be involved in the pathogenesis of various retinal diseases, and summarize how slowing vitamin A dimerization has been a therapeutic target of interest to prevent blindness. To elucidate the molecular mechanism of vitamin A dimerization, an alternative form of vitamin A, one that forms dimers more slowly yet maneuvers effortlessly through the visual cycle, was developed. Such a vitamin A, reinforced with deuterium (C20-D3-vitamin A), can be used as a non-disruptive tool to understand the contribution of vitamin A dimers to vision loss. Eventually, C20-D3-vitamin A could become a disease-modifying therapy to slow or stop vision loss associated with dry age-related macular degeneration (AMD), Stargardt disease and retinal diseases marked by such vitamin A dimers. Human clinical trials of C20-D3-vitamin A (ALK-001) are underway.

  12. Cystoid Macular Edema in Bietti's Crystalline Retinopathy

    OpenAIRE

    Ali Osman Saatci; Hasan Can Doruk; Aylin Yaman

    2014-01-01

    A 27-year-old man with progressive bilateral visual decline was diagnosed to have Bietti's crystalline dystrophy (BCD). Fluorescein angiography revealed bilateral petaloid type late hyperfluorescence implicating concurrent cystoid macular edema (CME). Optical coherence tomography exhibited cystoid foveal lacunas OU. During the follow-up of six years, intraretinal crystals reduced in amount but CME persisted angiographically and tomographically. CME is among the rare macular features of BCD in...

  13. Adaptive optics imaging of the outer retinal tubules in Bietti's crystalline dystrophy.

    Science.gov (United States)

    Battu, R; Akkali, M C; Bhanushali, D; Srinivasan, P; Shetty, R; Berendschot, T T J M; Schouten, J S A G; Webers, C A

    2016-05-01

    PurposeTo study the outer retinal tubules using spectral domain optical coherence tomography and adaptive optics and in patients with Bietti's crystalline dystrophy.MethodsTen eyes of five subjects from five independent families with Bietti's crystalline Dystrophy (BCD) were characterized with best-corrected visual acuity (BCVA), full-field electroretinography, and fundus autofluorescence (FAF). High-resolution images were obtained with the spectral domain optical coherence tomography (SD-OCT) and adaptive optics (AO).ResultsSD-OCT showed prominent outer retinal layer loss and outer retinal tubulations at the margin of outer retinal loss. AO images displayed prominent macrotubules and microtubules with characteristic features in eight out of the 10 eyes. Crystals were present in all ten eyes. There was a reduction in the cone count in all eyes in the area outside the outer retinal tubules (ORT).ConclusionsThis study describes the morphology of the outer retinal tubules when imaged enface on the adaptive optics in patients with BCD. These findings provide insight into the macular structure of these patients. This may have prognostic implications and refine the study on the pathogenesis of BCD.

  14. Serous macular detachment, yellow macular deposits, and prominent middle limiting membrane in multiple myeloma

    Directory of Open Access Journals (Sweden)

    Dogan B

    2015-04-01

    Full Text Available Berna Dogan,1 Muhammet Kazim Erol,1 Devrim Toslak,1 Deniz Turgut Coban,1 Mehmet Bulut,1 Ayse Cengiz,1 Esin Sogutlu Sari2 1Antalya Training and Research Hospital, Eye Clinic, Antalya, Turkey; 2Balikesir University Medicine Faculty, Eye Clinic, Balikesir, Turkey Abstract: Bone marrow-derived multiple myeloma is a type of plasma cell tumor that may be associated with ocular complications. A 52-year-old male patient was admitted to our eye clinic with the complaint of sudden visual loss and a visual acuity of 20/50 in the right eye and 20/800 in the left eye. Fundus examination revealed common flame-shaped hemorrhages, venous dilatation and tortuosity, Roth spots, serous macular detachment, and yellow macular deposits in both eyes. Evaluation with fundus fluorescein angiography, fundus autofluorescence, and spectral-domain optical coherence tomography resulted in suspicion of hyperviscosity retinopathy and referral to the hematology clinic. After hematology consultation confirmed a diagnosis of multiple myeloma, chemotherapy and plasmapheresis were initiated. Four months after presentation, best-corrected visual acuity was 20/20 in both eyes and improvement in hyperviscosity retinopathy, serous macular detachment, and yellow macular deposits was observed. Keywords: serous macular detachment, yellow macular deposit, prominent middle limiting membrane, multiple myeloma

  15. Fundus autofluorescence and colour fundus imaging compared during telemedicine screening in patients with diabetes.

    Science.gov (United States)

    Kolomeyer, Anton M; Baumrind, Benjamin R; Szirth, Bernard C; Shahid, Khadija; Khouri, Albert S

    2013-06-01

    We investigated the use of fundus autofluorescence (FAF) imaging in screening the eyes of patients with diabetes. Images were obtained from 50 patients with type 2 diabetes undergoing telemedicine screening with colour fundus imaging. The colour and FAF images were obtained with a 15.1 megapixel non-mydriatic retinal camera. Colour and FAF images were compared for pathology seen in nonproliferative and proliferative diabetic retinopathy (NPDR and PDR, respectively). A qualitative assessment was made of the ease of detecting early retinopathy changes and the extent of existing retinopathy. The mean age of the patients was 47 years, most were male (82%) and most were African American (68%). Their mean visual acuity was 20/45 and their mean intraocular pressure was 14.3 mm Hg. Thirty-eight eyes (76%) did not show any diabetic retinopathy changes on colour or FAF imaging. Seven patients (14%) met the criteria for NPDR and five (10%) for severe NPDR or PDR. The most common findings were microaneurysms, hard exudates and intra-retinal haemorrhages (IRH) (n = 6 for each). IRH, microaneurysms and chorioretinal scars were more easily visible on FAF images. Hard exudates, pre-retinal haemorrhage and fibrosis, macular oedema and Hollenhorst plaque were easier to identify on colour photographs. The value of FAF imaging as a complementary technique to colour fundus imaging in detecting diabetic retinopathy during ocular screening warrants further investigation.

  16. Local retinal sensitivity in relation to specific retinopathy lesions in diabetic macular oedema

    DEFF Research Database (Denmark)

    Soliman, Wael; Hasler, Pascal; Sander, Birgit;

    2012-01-01

    with nonproliferative diabetic retinopathy and recently diagnosed untreated DMO. Investigations included microperimetry, fluorescein angiography, colour fundus photography, and OCT. All measures and gradings were made for each of the nine fields of an early treatment diabetic retinopathy study macula template......Purpose: To study microperimetric macular sensitivity in diabetic macular oedema (DMO) in relation to lesion characteristics obtained by optical coherence tomography (OCT), colour fundus photography, and fluorescein angiography (FA). Methods: The study comprised 20 eyes in 15 patients...

  17. Bietti's Crystalline Dystrophy

    Science.gov (United States)

    ... Dystrophy > Facts About Bietti's Crystalline Dystrophy Facts About Bietti's Crystalline Dystrophy This information was developed by the ... is the best person to answer specific questions. Bietti’s Crystalline Dystrophy Defined What is Bietti’s Crystalline Dystrophy? ...

  18. The molecular genetics of the corneal dystrophies--current status.

    Science.gov (United States)

    Klintworth, Gordon K

    2003-05-01

    The pertinent literature on inherited corneal diseases is reviewed in terms of the chromosomal localization and identification of the responsible genes. Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Bietti marginal crystalline dystrophy), chromosome 5 (lattice dystrophy types 1 and IIIA, granular corneal dystrophy types 1, 2 and 3, Thiel-Behnke corneal dystrophy), chromosome 9 (lattice dystrophy type II), chromosome 10 (Thiel-Behnke corneal dystrophy), chromosome 12 (Meesmann dystrophy), chromosome 16 (macular corneal dystrophy, fish eye disease, LCAT disease, tyrosinemia type II), chromosome 17 (Meesmann dystrophy, Stocker-Holt dystrophy), chromosome 20 (congenital hereditary endothelial corneal dystrophy types I and II, posterior polymorphous corneal dystrophy), chromosome 21 (autosomal dominant keratoconus) and the X chromosome (cornea verticillata, cornea farinata, deep filiform corneal dystrophy, keratosis follicularis spinulosa decalvans, Lisch corneal dystrophy). Mutations in nine genes (ARSC1, CHST6, COL8A2, GLA, GSN, KRT3, KRT12, M1S1and TGFBI [BIGH3]) account for some of the corneal diseases and three of them are associated with amyloid deposition in the cornea (GSN, M1S1, TGFBI) including most of the lattice corneal dystrophies (LCDs) [LCD types I, IA, II, IIIA, IIIB, IV, V, VI and VII] recognized by their lattice pattern of linear opacities. Genetic studies on inherited diseases affecting the cornea have provided insight into some of these disorders at a basic molecular level and it has become recognized that distinct clinicopathologic phenotypes can result from specific mutations in a particular gene, as well as some different mutations in the same gene. A molecular genetic understanding of inherited corneal diseases is leading to a better appreciation of the

  19. Muscular Dystrophy

    Science.gov (United States)

    ... muscular dystrophy. It's important to be vaccinated for pneumonia and to keep up to date with influenza shots. Dietary changes haven't been shown to slow the progression of muscular dystrophy. But proper nutrition is essential because limited mobility can contribute to ...

  20. Pigmentos maculares Macular pigments

    Directory of Open Access Journals (Sweden)

    Renata Canovas

    2009-12-01

    Full Text Available A luteína e a zeaxantina são pigmentos amarelos que se localizam na mácula. Devido à sua localização, diminuem e filtram a quantidade de luz principalmente azul que chega aos fotorreceptores, atuam como antioxidantes e podem melhorar a qualidade visual. Esta é uma revisão do seu mecanismo de incorporação, ação, possíveis aplicações e conhecimento científico a respeito.Lutein and Zeaxanthin are yellow pigments located at the macula. Because of your location macular pigments decrease and filter the amount of blue light that reach photoreceptors, protect the outer retina from oxidative stress and may improve the vision quality. This is a review regarding incorporation mechanism, function and knowledge update.

  1. Bayer Filter Snapshot Hyperspectral Fundus Camera for Human Retinal Imaging.

    Science.gov (United States)

    Kaluzny, Joel; Li, Hao; Liu, Wenzhong; Nesper, Peter; Park, Justin; Zhang, Hao F; Fawzi, Amani A

    2017-04-01

    To demonstrate the versatility and performance of a compact Bayer filter snapshot hyperspectral fundus camera for in-vivo clinical applications including retinal oximetry and macular pigment optical density measurements. 12 healthy volunteers were recruited under an Institutional Review Board (IRB) approved protocol. Fundus images were taken with a custom hyperspectral camera with a spectral range of 460-630 nm. We determined retinal vascular oxygen saturation (sO2) for the healthy population using the captured spectra by least squares curve fitting. Additionally, macular pigment optical density was localized and visualized using multispectral reflectometry from selected wavelengths. We successfully determined the mean sO2 of arteries and veins of each subject (ages 21-80) with excellent intrasubject repeatability (1.4% standard deviation). The mean arterial sO2 for all subjects was 90.9% ± 2.5%, whereas the mean venous sO2 for all subjects was 64.5% ± 3.5%. The mean artery-vein (A-V) difference in sO2 varied between 20.5% and 31.9%. In addition, we were able to reveal and quantify macular pigment optical density. We demonstrated a single imaging tool capable of oxygen saturation and macular pigment density measurements in vivo. The unique combination of broad spectral range, high spectral-spatial resolution, rapid and robust imaging capability, and compact design make this system a valuable tool for multifunction spectral imaging that can be easily performed in a clinic setting.

  2. Myotonic Dystrophy Family Registry

    Science.gov (United States)

    2016-03-28

    Myotonic Dystrophy; Congenital Myotonic Dystrophy; Myotonic Dystrophy 1; Myotonic Dystrophy 2; Dystrophia Myotonica; Dystrophia Myotonica 1; Dystrophia Myotonica 2; Myotonia Dystrophica; Myotonic Dystrophy, Congenital; Myotonic Myopathy, Proximal; PROMM (Proximal Myotonic Myopathy); Proximal Myotonic Myopathy; Steinert Disease; Steinert Myotonic Dystrophy; Steinert's Disease; Myotonia Atrophica

  3. Analysis of CHST6 gene mutation in macular corneal dystrophy%斑状角膜营养不良CHST6基因突变分析研究

    Institute of Scientific and Technical Information of China (English)

    刘玉莲; 李璇; 邹鹏飞; 卢建民

    2013-01-01

    Objective To investigate the mutations of the gene in a Chinese family with Macular corneal dystrophy (MCD),and to provide the genetic diagnosis and consultation of heredity for the patients and their families.Methods Genomic DNA was isolated from leukocytes of 3 patients of a family with MCD from the northeast China.The third exon of carbohydrate sulfotransferase 6(CHST6) gene were amplified by polymerase chain reaction (PCR) and the positions and types of gene mutations were further determined by direct sequencing.Results A common frameshift mutation due to base insert of the third exon:T62A/62-63insA was detected in all 3 MCD patients,and the terminal codon exists at NO.322 base earlier.Conclusions The mutation T62A/62-63insA is first found in MCD family,which can be used for genetic diagnosis and consultation directly.%目的 斑状角膜营养不良(MCD)是一种临床表现为进行性角膜斑状混浊的少见常染色体隐性遗传病,由碳水化合物磺基转移酶(CHST6)基因突变导致,最终常需角膜移植手术治疗.研究MCD患者的CHST6基因突变,为患者及家属提供基因诊断和遗传咨询.方法 聚合酶链式反应法研究.对2009年8月至2010年12月在大连医科大学附属第一医院眼科收治的MCD一家系3例同代患者的CHST6基因的第3外显子片段进行扩增后直接DNA测序,以明确突变位点及突变类型.结果 3例第3外显子均发生共同的复合式突变:T62M62-63insA,致使终止密码子提前出现至第322位碱基.结论 CHST6基因第3外显子的T62A/62-63insA突变可为患者及亲属提供基因诊断及家系遗传指导.且迄今为止该突变首次被发现.

  4. Fundus Autofluorescence Imaging in an Ocular Screening Program

    Directory of Open Access Journals (Sweden)

    A. M. Kolomeyer

    2012-01-01

    Full Text Available Purpose. To describe integration of fundus autofluorescence (FAF imaging into an ocular screening program. Methods. Fifty consecutive screening participants were included in this prospective pilot imaging study. Color and FAF (530/640 nm exciter/barrier filters images were obtained with a 15.1MP Canon nonmydriatic hybrid camera. A clinician evaluated the images on site to determine need for referral. Visual acuity (VA, intraocular pressure (IOP, and ocular pathology detected by color fundus and FAF imaging modalities were recorded. Results. Mean ± SD age was 47.4 ± 17.3 years. Fifty-two percent were female and 58% African American. Twenty-seven percent had a comprehensive ocular examination within the past year. Mean VA was 20/39 in the right eye and 20/40 in the left eye. Mean IOP was 15 mmHg bilaterally. Positive color and/or FAF findings were identified in nine (18% individuals with diabetic retinopathy or macular edema (n=4, focal RPE defects (n=2, age-related macular degeneration (n=1, central serous retinopathy (n=1, and ocular trauma (n=1. Conclusions. FAF was successfully integrated in our ocular screening program and aided in the identification of ocular pathology. Larger studies examining the utility of this technology in screening programs may be warranted.

  5. Fundus autofluorescence imaging in an ocular screening program.

    Science.gov (United States)

    Kolomeyer, A M; Nayak, N V; Szirth, B C; Khouri, A S

    2012-01-01

    Purpose. To describe integration of fundus autofluorescence (FAF) imaging into an ocular screening program. Methods. Fifty consecutive screening participants were included in this prospective pilot imaging study. Color and FAF (530/640 nm exciter/barrier filters) images were obtained with a 15.1MP Canon nonmydriatic hybrid camera. A clinician evaluated the images on site to determine need for referral. Visual acuity (VA), intraocular pressure (IOP), and ocular pathology detected by color fundus and FAF imaging modalities were recorded. Results. Mean ± SD age was 47.4 ± 17.3 years. Fifty-two percent were female and 58% African American. Twenty-seven percent had a comprehensive ocular examination within the past year. Mean VA was 20/39 in the right eye and 20/40 in the left eye. Mean IOP was 15 mmHg bilaterally. Positive color and/or FAF findings were identified in nine (18%) individuals with diabetic retinopathy or macular edema (n = 4), focal RPE defects (n = 2), age-related macular degeneration (n = 1), central serous retinopathy (n = 1), and ocular trauma (n = 1). Conclusions. FAF was successfully integrated in our ocular screening program and aided in the identification of ocular pathology. Larger studies examining the utility of this technology in screening programs may be warranted.

  6. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Español Eye Health / Eye Health A-Z Macular Edema Sections What Is Macular Edema? What Causes Macular ... Edema Diagnosis Macular Edema Treatment What Is Macular Edema? Dec. 01, 2010 Macular edema is swelling or ...

  7. Clinical and tomographic aspects of macular microholes; Aspectos clinicos e tomograficos dos microburacos maculares

    Energy Technology Data Exchange (ETDEWEB)

    Novelli, Fernando Jose de [Hospital de Olhos Sadalla Amin Ghanem, Joinville, SC (Brazil)], e-mail: Fernando.novelli@gmail.com; Maia Junior, Otacilio de Oliveira [Fundacao Monte Tabor, Salvador, BA (Brazil). Hospital Sao Rafael; Nobrega, Mario Junqueira [Universidade da Regiao de Joinville (UNIVILLE), Joinville, SC (Brazil); Garrido Neto, Theodomiro [Universidade do Estado do Amazonas (UEA), Manaus, AM (Brazil); Takahashi, Walter Yukihiko [Universidade de Sao Paulo (USP), SP (Brazil). Hospital das Clinicas. Dept. de Oftalmologia

    2009-07-01

    Purpose: To describe the clinical aspects and evaluate optical coherence tomography of macular microholes. Methods: Seven patients were assessed (8 eyes) with microholes of the macula. All patients underwent complete eye examination, fundus photography, fluorescent angiography and OCT-3 imaging. Results: Ages ranged from 26 to 69 years. Six patients were female (85.7%) and five of them had microhole in the right eye. The presenting symptom was decrease in visual acuity (71.3%) and central scotoma in (14.3%). Five eyes (71.4%) had no defects shown by fluorescent angiography. A defect in the outer retina was demonstrated in all eyes on optical coherence tomography. The lesions were nonprogressive. Conclusion: Macular microholes are small lamellar defects in the outer retina. The condition is nonprogressive, generally unilateral and compatible with good visual acuity. Fundus biomicroscopy associated with an optical coherence tomography are the main elements in the diagnosis and study of this pathology. (author)

  8. [Genetic diagnostic testing in inherited retinal dystrophies].

    Science.gov (United States)

    Kohl, S; Biskup, S

    2013-03-01

    Inherited retinal dystrophies are clinically and genetically highly heterogeneous. They can be divided according to the clinical phenotype and course of the disease, as well as the underlying mode of inheritance. Isolated retinal dystrophies (i.e., retinitis pigmentosa, Leber's congenital amaurosis, cone and cone-rod dystrophy, macular dystrophy, achromatopsia, congenital stationary nightblindness) and syndromal forms (i.e., Usher syndrome, Bardet-Biedl syndrome) can be differentiated. To date almost 180 genes and thousands of distinct mutations have been identified that are responsible for the different forms of these blinding illnesses. Until recently, there was no adequate diagnostic genetic testing available. With the development of the next generation sequencing technologies, a comprehensive genetic screening analysis for all known genes for inherited retinal dystrophies has been established at reasonable costs and in appropriate turn-around times. Depending on the primary clinical diagnosis and the presumed mode of inheritance, different diagnostic panels can be chosen for genetic testing. Statistics show that in 55-80 % of the cases the genetic defect of the inherited retinal dystrophy can be identified with this approach, depending on the initial clinical diagnosis. The aim of any genetic diagnostics is to define the genetic cause of a given illness within the affected patient and family and thereby i) confirm the clinical diagnosis, ii) provide targeted genetic testing in family members, iii) enable therapeutic intervention, iv) give a prognosis on disease course and progression and v) in the long run provide the basis for novel therapeutic approaches and personalised medicine.

  9. Case Report of Bullous Pemphigoid following Fundus Fluorescein Angiography

    Directory of Open Access Journals (Sweden)

    Goktug Demirci

    2010-05-01

    Full Text Available Purpose: To report a first case of bullous pemphigoid (BP following intravenous fluorescein for fundus angiography. Clinical Features: A 70-year-old male patient was admitted to the intensive care unit with BP and sepsis. He reported a history of fundus fluorescein angiography with a pre-diagnosis of senile macular degeneration 2 months prior to presentation. At that time, fluorescein extravasated at the antecubital region. Following the procedure, pruritus and erythema began at the wrists bilaterally, and quickly spread to the entire body. The patient also reported a history of allergy to human albumin solution (Plamasteril®; Abbott 15 years before, during bypass surgery. On dermatologic examination, erythematous patches were present on the scalp, chest and anogenital region. Vesicles and bullous lesions were present on upper and lower extremities. On day 2 of hospitalization, tense bullae appeared on the upper and lower extremities. The patient was treated with oral methylprednisolone 48 mg (Prednol®; Mustafa Nevzat, topical clobetasol dipropionate 0.05% cream (Dermovate®; Glaxo SmithKline, and topical 4% urea lotion (Excipial Lipo®; Orva for presumptive bullous pemphigoid. Skin punch biopsy provided tissue for histopathology, direct immunofluorescence examination, and salt extraction, which were all consistent with BP. After 1 month, the patient was transferred to the intensive care unit with sepsis secondary to urinary tract infection; he died 2 weeks later from sepsis and cardiac failure. Conclusions: To our knowledge, this is the first reported case of BP following fundus fluorescein angiography in a patient with known human albumin solution allergy. Consideration should be made to avoid fluorescein angiography, change administration route, or premedicate with antihistamines in patients with known human albumin solution allergy. The association between fundus fluorescein angiography and BP should be further investigated.

  10. Muscular Dystrophy

    Science.gov (United States)

    Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy ... types can vary in whom they affect, which muscles they affect, and what the symptoms are. All ...

  11. Ocular Fundus Photography as an Educational Tool.

    Science.gov (United States)

    Mackay, Devin D; Garza, Philip S

    2015-10-01

    The proficiency of nonophthalmologists with direct ophthalmoscopy is poor, which has prompted a search for alternative technologies to examine the ocular fundus. Although ocular fundus photography has existed for decades, its use has been traditionally restricted to ophthalmology clinical care settings and textbooks. Recent research has shown a role for nonmydriatic fundus photography in nonophthalmic settings, encouraging more widespread adoption of fundus photography technology. Recent studies have also affirmed the role of fundus photography as an adjunct or alternative to direct ophthalmoscopy in undergraduate medical education. In this review, the authors examine the use of ocular fundus photography as an educational tool and suggest future applications for this important technology. Novel applications of fundus photography as an educational tool have the potential to resurrect the dying art of funduscopy.

  12. Determining the size of retinal features in prematurely born children by fundus photography.

    Science.gov (United States)

    Knaapi, Laura; Lehtonen, Tuomo; Vesti, Eija; Leinonen, Markku T

    2015-06-01

    The purpose was to study the effect of prematurity on the macula-disc centre distance and whether it could be used as a reference tool for determining the size of retinal features in prematurely born children by fundus photography. The macula-disc centre distance of the left eye was measured in pixels from digital fundus photographs taken from 27 prematurely born children aged 10-11 years with Topcon fundus camera. A conversion factor for Topcon fundus camera (194.98 pixel/mm for a 50° lens) was used to convert the results in pixels into metric units. The macula-disc centre distance was 4.74 mm, SD 0.29. No correlation between ametropia and the macula-disc centre distance was found (r = -0.07, p > 0.05). One child (subject 20) had high myopia and retinopathy of prematurity (ROP), and the macula-disc centre distance was longer than average (6.35 mm). The macula-disc centre distance in prematurely born children at the age of 10-11 years provides an easy-to-use reference tool for evaluating the size of retinal features on fundus photographs. However, if complications of ROP, for example temporal macular dragging or high ametropia, are present, the macula-disc centre distance is potentially altered and a personal macula-disc centre distance should be determined and used as a refined reference tool. © 2014 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  13. Acute macular edema following intracorporeal prostaglandin injection for erectile dysfunction

    Directory of Open Access Journals (Sweden)

    Asahi MG

    2015-07-01

    Full Text Available Masumi G Asahi, Calvin Chou, Ron P Gallemore Retina Macula Institute, Torrance, CA, USA Purpose: We aimed to describe the first case of macular edema following intracorporeal injection of alprostadil, a prostaglandin E1. Methods: This was a retrospective case report followed with optical coherence tomography, fundus photos, and fluorescein angiography images. Results: A patient developed bilateral cystoid macular edema following intracorporeal injection of alprostadil, a prostaglandin E1 for treatment of erectile dysfunction. The edema resolved following treatment with nonsteroidal anti-inflammatory drugs (NSAIDs and corticosteroids, with subsequent recovery in visual acuity. Discussion: Systemic prostaglandin administration can cause macular edema and vision loss, indicating that elevated systemic prostaglandin levels may affect visual function. This has potential implications for other systemic disorders and treatments that could affect macular function. Keywords: alprostadil, inflammation

  14. Statistical Characterization and Segmentation of Drusen in Fundus Images

    Energy Technology Data Exchange (ETDEWEB)

    Santos-Villalobos, Hector J [ORNL; Karnowski, Thomas Paul [ORNL; Aykac, Deniz [ORNL; Giancardo, Luca [ORNL; Li, Yaquin [University of Tennessee, Knoxville (UTK); Nichols, Trent L [ORNL; Tobin Jr, Kenneth William [ORNL; Chaum, Edward [University of Tennessee, Knoxville (UTK)

    2011-01-01

    Age related Macular Degeneration (AMD) is a disease of the retina associated with aging. AMD progression in patients is characterized by drusen, pigmentation changes, and geographic atrophy, which can be seen using fundus imagery. The level of AMD is characterized by standard scaling methods, which can be somewhat subjective in practice. In this work we propose a statistical image processing approach to segment drusen with the ultimate goal of characterizing the AMD progression in a data set of longitudinal images. The method characterizes retinal structures with a statistical model of the colors in the retina image. When comparing the segmentation results of the method between longitudinal images with known AMD progression and those without, the method detects progression in our longitudinal data set with an area under the receiver operating characteristics curve of 0.99.

  15. Statistical characterization and segmentation of drusen in fundus images.

    Science.gov (United States)

    Santos-Villalobos, H; Karnowski, T P; Aykac, D; Giancardo, L; Li, Y; Nichols, T; Tobin, K W; Chaum, E

    2011-01-01

    Age related Macular Degeneration (AMD) is a disease of the retina associated with aging. AMD progression in patients is characterized by drusen, pigmentation changes, and geographic atrophy, which can be seen using fundus imagery. The level of AMD is characterized by standard scaling methods, which can be somewhat subjective in practice. In this work we propose a statistical image processing approach to segment drusen with the ultimate goal of characterizing the AMD progression in a data set of longitudinal images. The method characterizes retinal structures with a statistical model of the colors in the retina image. When comparing the segmentation results of the method between longitudinal images with known AMD progression and those without, the method detects progression in our longitudinal data set with an area under the receiver operating characteristics curve of 0.99.

  16. Macular Diplopia.

    Science.gov (United States)

    Shippman, Sara; Cohen, Kenneth R; Heiser, Larissa

    2015-01-01

    Maculopathies affect point-to-point foveal correspondence causing diplopia. The effect that the maculopathies have on the interaction of central sensory fusion and peripheral fusion are different than the usual understanding of treatment for diplopia. This paper reviews the pathophysiology of macular diplopia, describes the binocular pathology causing the diplopia, discusses the clinical evaluation, and reviews the present treatments including some newer treatment techniques.

  17. Myotonic dystrophy.

    Science.gov (United States)

    Thornton, Charles A

    2014-08-01

    Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene. Both disorders have autosomal dominant inheritance and multisystem features, including myotonic myopathy, cataract, and cardiac conduction disease. This article reviews the clinical presentation and pathophysiology of DM and discusses current management and future potential for developing targeted therapies.

  18. Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study

    DEFF Research Database (Denmark)

    Munch, Inger Christine; Ek, Jakob; Kessel, Line;

    2010-01-01

    PURPOSE: To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with age-related macular degeneration (AMD). METHODS: Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30...... were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4-13, for CC versus TT genotypes) as was macular drusen >63 microm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 microm were associated with the presence of 20 or more small, hard...

  19. Infrared imaging enhances retinal crystals in Bietti’s crystalline dystrophy

    Science.gov (United States)

    Brar, Vikram S; Benson, William H

    2015-01-01

    Infrared imaging dramatically increased the number of crystalline deposits visualized compared with clinical examination, standard color fundus photography, and red free imaging in patients with Bietti’s crystalline dystrophy. We believe that this imaging modality significantly improves the sensitivity with which these lesions are detected, facilitating earlier diagnosis and may potentially serve as a prognostic indicator when examined over time. PMID:25931805

  20. Utility of hard exudates for the screening of macular edema.

    Science.gov (United States)

    Litvin, Taras V; Ozawa, Glen Y; Bresnick, George H; Cuadros, Jorge A; Muller, Matthew S; Elsner, Ann E; Gast, Thomas J

    2014-04-01

    The purpose of this study was to determine whether hard exudates (HEs) within one disc diameter of the foveola is an acceptable criterion for the referral of diabetic patients suspected of clinically significant macular edema (CSME) in a screening setting. One hundred forty-three adults diagnosed as having diabetes mellitus were imaged using a nonmydriatic digital fundus camera at the Alameda County Medical Center in Oakland, CA. Nonstereo fundus images were graded independently for the presence of HE near the center of the macula by two graders according to the EyePACS grading protocol. The patients also received a dilated fundus examination on a separate visit. Clinically significant macular edema was determined during the dilated fundus examination using the criteria set forth by the Early Treatment Diabetic Retinopathy Study. Subsequently, the sensitivity and specificity of HEs within one disc diameter of the foveola in nonstereo digital images used as a surrogate for the detection of CSME diagnosed by live fundus examination were calculated. The mean (±SD) age of 103 patients included in the analysis was 56 ± 17 years. Clinically significant macular edema was diagnosed in 15.5% of eyes during the dilated examination. For the right eyes, the sensitivity of HEs within one disc diameter from the foveola as a surrogate for detecting CSME was 93.8% for each of the graders; the specificity values were 88.5 and 85.1%. For the left eyes, the sensitivity values were 93.8 and 75% for each of the two graders, respectively; the specificity was 87.4% for both graders. This study supports the use of HE within a disc diameter of the center of the macula in nonstereo digital images for CSME detection in a screening setting.

  1. Disease: H00732 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available :1633-6 (1992) PMID:11556484 (gene, description) Musarella MA Molecular genetics of macular...order characterized by macular degeneration with bilateral central visual loss. The lesions progress into ou...H00732 Sorsby fundus dystrophy Sorsby fundus dystrophy is an autosomal dominant dis

  2. Coaxial fundus camera for opthalmology

    Science.gov (United States)

    de Matos, Luciana; Castro, Guilherme; Castro Neto, Jarbas C.

    2015-09-01

    A Fundus Camera for ophthalmology is a high definition device which needs to meet low light illumination of the human retina, high resolution in the retina and reflection free image1. Those constraints make its optical design very sophisticated, but the most difficult to comply with is the reflection free illumination and the final alignment due to the high number of non coaxial optical components in the system. Reflection of the illumination, both in the objective and at the cornea, mask image quality, and a poor alignment make the sophisticated optical design useless. In this work we developed a totally axial optical system for a non-midriatic Fundus Camera. The illumination is performed by a LED ring, coaxial with the optical system and composed of IR of visible LEDs. The illumination ring is projected by the objective lens in the cornea. The Objective, LED illuminator, CCD lens are coaxial making the final alignment easily to perform. The CCD + capture lens module is a CCTV camera with autofocus and Zoom built in, added to a 175 mm focal length doublet corrected for infinity, making the system easily operated and very compact.

  3. Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia.

    Science.gov (United States)

    Moloney, Thomas P; O'Hagan, Stephen; Lee, Lawrence

    2014-01-01

    Gyrate atrophy of the choroid and retina is a rare chorioretinal dystrophy inherited in an autosomal recessive pattern. We describe the first documented case of gyrate atrophy from Australia in a 56-year-old woman with a history of previous diagnosis of retinitis pigmentosa and worsening night vision in her right eye over several years. She was myopic and bilaterally pseudophakic, and fundus examination revealed pale optic discs and extensive peripheral chorioretinal atrophy exposing bare sclera bilaterally with only small islands of normal-appearing retina at each posterior pole. Visual field testing showed grossly constricted fields, blood testing showed hyperornithinemia, and further questioning revealed consanguinity between the patient's parents. We then used the patient's typical retinal findings of gyrate atrophy to demonstrate the potential use of ultrawide-field fundus photography and angiography in diagnosis and monitoring response in future treatment.

  4. Suspected macular degeneration in a captive Western lowland gorilla (Gorilla gorilla gorilla).

    Science.gov (United States)

    Steinmetz, Andrea; Bernhard, Andreas; Sahr, Sabine; Oechtering, Gerhard

    2012-09-01

    The case of a 31-year-old captive female Western lowland gorilla (Gorilla gorilla gorilla) with decreased near vision but good distance vision is presented. Examination of the fundus revealed drusen-like bodies in the macula presumably because of an age-related macular degeneration (AMD).

  5. Murine fundus fluorescein angiography: An alternative approach using a handheld camera.

    Science.gov (United States)

    Ehrenberg, Moshe; Ehrenberg, Scott; Schwob, Ouri; Benny, Ofra

    2016-07-01

    In today's modern pharmacologic approach to treating sight-threatening retinal vascular disorders, there is an increasing demand for a compact, mobile, lightweight and cost-effective fluorescein fundus camera to document the effects of antiangiogenic drugs on laser-induced choroidal neovascularization (CNV) in mice and other experimental animals. We have adapted the use of the Kowa Genesis Df Camera to perform Fundus Fluorescein Angiography (FFA) in mice. The 1 kg, 28 cm high camera has built-in barrier and exciter filters to allow digital FFA recording to a Compact Flash memory card. Furthermore, this handheld unit has a steady Indirect Lens Holder that firmly attaches to the main unit, that securely holds a 90 diopter lens in position, in order to facilitate appropriate focus and stability, for photographing the delicate central murine fundus. This easily portable fundus fluorescein camera can effectively record exceptional central retinal vascular detail in murine laser-induced CNV, while readily allowing the investigator to adjust the camera's position according to the variable head and eye movements that can randomly occur while the mouse is optimally anesthetized. This movable image recording device, with efficiencies of space, time, cost, energy and personnel, has enabled us to accurately document the alterations in the central choroidal and retinal vasculature following induction of CNV, implemented by argon-green laser photocoagulation and disruption of Bruch's Membrane, in the experimental murine model of exudative macular degeneration.

  6. Fundus imaging with a nasal endoscope

    Directory of Open Access Journals (Sweden)

    P Mahesh Shanmugam

    2015-01-01

    Full Text Available Wide field fundus imaging is needed to diagnose, treat, and follow-up patients with retinal pathology. This is more applicable for pediatric patients as repeated evaluation is a challenge. The presently available imaging machines though provide high definition images, but carry the obvious disadvantages of either being costly or bulky or sometimes both, which limits its usage only to large centers. We hereby report a technique of fundus imaging using a nasal endoscope coupled with viscoelastic. A regular nasal endoscope with viscoelastic coupling was placed on the cornea to image the fundus of infants under general anesthesia. Wide angle fundus images of various fundus pathologies in infants could be obtained easily with readily available instruments and without the much financial investment for the institutes.

  7. Fundus Findings in Wernicke Encephalopathy

    Directory of Open Access Journals (Sweden)

    Tal Serlin

    2017-07-01

    Full Text Available Wernicke encephalopathy (WE is an acute neuropsychiatric syndrome resulting from thiamine (vitamin B1 deficiency, classically characterized by the triad of ophthalmoplegia, confusion, and ataxia. While commonly associated with chronic alcoholism, WE may also occur in the setting of poor nutrition or absorption. We present a 37-year-old woman who underwent laparoscopic sleeve gastrectomy and presented with visual disturbance with bilateral horizontal nystagmus, confusion, and postural imbalance. Fundus examination revealed bilateral optic disc edema with a retinal hemorrhage in the left eye. Metabolic workup demonstrated thiamine deficiency. Her symptoms resolved after thiamine treatment. This case raises the awareness of the possibility of posterior segment findings in WE, which are underreported in WE.

  8. Optic Coherence Tomography of Idiopathic Macular Epiretinal Membranes

    Institute of Scientific and Technical Information of China (English)

    Xing Liu; Yunlan Ling; Jingjing Huang; Xiaoping Zheng

    2002-01-01

    bjectives: To study the characteristics of optical coherence tomography (OCT)inopathic macular epiretinal membranes (IMEM) and the relationship between thethickness offovea and the vision of affected eyes.Methods:A total of 67 cases (73 eyes) with clinical diagnosis of IMEM using direct,indirect ophthalmoscope, three mirror contact lens, fundus color photography or fundusfluorescein angiography (FFA)were examined with OCTResults: Epiretinal membranes (ERMs) with macular edema were found in 32 eyes,proliferative ERMs in 20 eyes, ERMs with macular pseudoholes in 14 eyes and ERMswith laminar macular holes in 7 eyes. Based on OCT, the ERMs were clearly andpartially seperated from the retinal (27 eyes, 38.36% ), the retinal thickness of thefovea was the thickest in the proliferative ERMs and the thinnest in the ERMs withlaminar macular holes. The statistical analysis showed there was a negative correlationbetween the thickness of fovea and visual acuity ( r = - 0. 454, P = 0. 000).Conclusion:There were four types of images of OCT in IMEM: ERMs with macularedema, proliferative ERMs, ERMs with macular pseudohole and ERMs with laminarmacular hole; and the thicker the fovea under the OCT, the poorer the vision acuity in the affected eyes with ERMs.

  9. Clinical Observation on Juvenile Macular Hole without Trauma and Hypermyopia

    Institute of Scientific and Technical Information of China (English)

    Tieying Zhao; Qingshan Chen; Ming Li; Xunqing Gu; Rulong Gao; Feng Wen

    2005-01-01

    Purpose: To investigate the clinical characteristics of juvenile macular hole without trauma and hypermyopia, and research the mechanism of macular hole.Methods: Sixty-seven patients less than 40 years of age were studied retrospectively from June 1998 to March 2003. Five cases (7 eyes) aged from 22 to 38 years were reported and the clinical characteristics that had macular hole without trauma or hypermyopia were summed up.Results: There was 1 male and 4 females with visual acuity from 0.08 to 0.8. The images of optical coherence tomography (OCT) showed full thickness macular hole in 5 patients (7 eyes), and the diameters were from 87 to 1043 μm. Among them, 2 cases were combined with retina pigmentosa; 1 case with binocular Coat's disease; 1 case had bilateral macular hole combined with Eagles' disease; 1 case was combined with 2-2.5PD old retinochoroidal lesion under middle-peripheral fundus, and 1.5 PD retinal pigment epithelium (RPE) defect on the optical disk.Conclusion: The juvenile macular hole without trauma and hypermyopia combined the different retina vascular damages and the RPE defects.

  10. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center Global Ophthalmology Guide Eye ... What Is Macular Edema? Dec. 01, 2010 Macular ...

  11. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Tips & Prevention News Ask an Ophthalmologist Patient Stories Español Eye Health / Eye Health A-Z Macular Edema ... Edema Treatment What Is Macular Edema? Leer en Español: ¿Qué Es un Edema Macular? Dec. 01, 2010 ...

  12. Wet Macular Degeneration

    Science.gov (United States)

    ... macular degeneration Overview By Mayo Clinic Staff Wet macular degeneration is a chronic eye disease that causes blurred vision or a blind spot in your visual field. It's generally caused by abnormal blood vessels that leak fluid or blood into ... macular degeneration is one of two types of age-related ...

  13. Agreement of retinal nerve fiber layer defect location between red-free fundus photography and cirrus HD-OCT maps.

    Science.gov (United States)

    Hwang, Young Hoon; Kim, Yong Yeon; Kim, Hwang Ki; Sohn, Yong Ho

    2014-11-01

    To investigate the agreement of angular locations of retinal nerve fiber layer (RNFL) defect margins in glaucomatous eyes by using red-free fundus photographs and Cirrus high-definition optical coherence tomography (OCT) RNFL deviation and thickness maps. We examined 380 RNFL defects that showed clear margins in red-free fundus photographs. The OCT deviation and thickness maps were overlaid on the corresponding red-free fundus photographs. A reference line was drawn between the disc center and the macular center. Lines were also drawn between the optic disc center and the point where the RNFL defect margins crossed the OCT scan circle. The angle between the reference and defect-margin lines defined the angular location of the defect margin. Angular locations of proximal (nearest to the reference) and distal (farthest from the reference) RNFL defect margins on OCT deviation and thickness maps were compared to the locations on red-free fundus photographs. The angular locations of proximal and distal RNFL defect margins on OCT thickness maps showed good agreement with red-free fundus photographs. However, OCT deviation maps showed greater angular locations for both proximal and distal RNFL defect margins compared with red-free fundus photographs, especially in eyes with higher myopia (p < 0.05). Red-free fundus photographs and OCT thickness maps showed good agreement for the RNFL defect margin identification. However, this was not the case for deviation maps, especially in myopic eyes. This finding should be considered when evaluating RNFL defects using OCT maps.

  14. Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.

    NARCIS (Netherlands)

    Lith-Verhoeven, J.J. van; Cremers, F.P.M.; Helm, L.J.M. van den; Hoyng, C.B.; Deutman, A.F.

    2003-01-01

    PURPOSE: Butterfly-shaped macular dystrophy (BSMD) has so far only been associated with mutations in the peripherin/RDS gene. The initial aim of our study was to investigate the peripherin/RDS gene as the causative gene in a family with BSMD. Subsequently the putative involvement of the ROM-1 gene,

  15. Genetics Home Reference: myotonic dystrophy

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions myotonic dystrophy myotonic dystrophy Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Myotonic dystrophy is part of a group of inherited disorders ...

  16. Genetics of Bietti Crystalline Dystrophy.

    Science.gov (United States)

    Ng, Danny S C; Lai, Timothy Y Y; Ng, Tsz Kin; Pang, Chi Pui

    2016-01-01

    Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. CYP4V2 has been identified as the causative gene for BCD. The CYP4V2 gene belongs to the cytochrome P450 superfamily and encodes for fatty acid ω-hydroxylase of both saturated and unsaturated fatty acids. The CYP4V2 protein is localized most abundantly within the endoplasmic reticulum in the RPE and is postulated to play a role in the physiological lipid recycling system between the RPE and photoreceptors to maintain visual function. Electroretinographic assessments have revealed progressive dysfunction of rod and cone photoreceptors in patients with BCD. Several genotypes have been associated with more severe phenotypes based on clinical and electrophysiological findings. With the advent of multimodal imaging with spectral domain optical coherence tomography, fundus autofluorescence, and adaptive optics scanning laser ophthalmoscopy, more precise delineation of BCD severity and progression is now possible, allowing for the potential future development of targets for gene therapy.

  17. Unusual optical coherence tomography and fundus autofluorescence findings of eclipse retinopathy

    Directory of Open Access Journals (Sweden)

    Kun-Hsien Li

    2012-01-01

    Full Text Available A 63-year-old female patient complained of dimness in the central field of vision in the left eye after viewing an annular partial eclipse without adequate eye protection on 22 July 2009. Fundoscopy showed a wrinkled macular surface. Fundus autofluorescence study revealed well-demarcated hyperautofluorescence at the fovea. Optical coherence tomography demonstrated tiny intraretinal cysts. Fluorescein angiography and indocyanine green angiography were unremarkable. Epimacular membrane developed in the following month with deteriorated vision. Vitrectomy, epiretinal membrane and internal limiting membrane peeling were performed. Vision was restored to 20/20 after the operation. Direct sun-gazing may damage the retinal structures resulting in macular inflammation and increased focal metabolism, which explains the hyperautofluorescence. It may also induce epimacular membrane. Fundus autofluorescence might represent a useful technique to detect subtle solar-induced injuries of the retina. The visual prognosis is favorable but prevention remains the mainstay of treatment. Public health education is mandatory in reducing visual morbidity.

  18. Laparoscopic retrograde (fundus first cholecystectomy

    Directory of Open Access Journals (Sweden)

    Kelly Michael D

    2009-12-01

    Full Text Available Abstract Background Retrograde ("fundus first" dissection is frequently used in open cholecystectomy and although feasible in laparoscopic cholecystectomy (LC it has not been widely practiced. LC is most simply carried out using antegrade dissection with a grasper to provide cephalad fundic traction. A series is presented to investigate the place of retrograde dissection in the hands of an experienced laparoscopic surgeon using modern instrumentation. Methods A prospective record of all LCs carried out by an experienced laparoscopic surgeon following his appointment in Bristol in 2004 was examined. Retrograde dissection was resorted to when difficulties were encountered with exposure and/or dissection of Calot's triangle. Results 1041 LCs were carried out including 148 (14% emergency operations and 131 (13% associated bile duct explorations. There were no bile duct injuries although conversion to open operation was required in six patients (0.6%. Retrograde LC was attempted successfully in 11 patients (1.1%. The age ranged from 28 to 80 years (mean 61 and there were 7 males. Indications were; fibrous, contracted gallbladder 7, Mirizzi syndrome 2 and severe kyphosis 2. Operative photographs are included to show the type of case where it was needed and the technique used. Postoperative stay was 1/2 to 5 days (mean 2.2 with no delayed sequelae on followup. Histopathology showed; chronic cholecystitis 7, xanthogranulomatous cholecystitis 3 and acute necrotising cholecystitis 1. Conclusions In this series, retrograde laparoscopic dissection was necessary in 1.1% of LCs and a liver retractor was needed in 9 of the 11 cases. This technique does have a place and should be in the armamentarium of the laparoscopic surgeon.

  19. An evaluation of fundus photography and fundus autofluorescence in the diagnosis of cuticular drusen

    DEFF Research Database (Denmark)

    Høeg, Tracy B; Moldow, Birgitte; Klein, Ronald

    2016-01-01

    PURPOSE: To examine non-mydriatic fundus photography (FP) and fundus autofluorescence (FAF) as alternative non-invasive imaging modalities to fluorescein angiography (FA) in the detection of cuticular drusen (CD). METHODS: Among 2953 adults from the Danish Rural Eye Study (DRES) with gradable FP...

  20. [Macular serpiginous choroiditis complicated by macular hole].

    Science.gov (United States)

    Brănişteanu, D; Moraru, Andreea

    2014-01-01

    Macular serpiginouschoroiditis is a rare variant of serpiginous choroiditis characterized by a severe recurrent inflammation of both central choroid and retinal pigment epithelium. Visual prognosis is severe due to subsequent distruction of retinal structures. Permanent central visual loss is the consequence of retinal pigment epithelium hyper or hypoplasia and/or subretinal neovascularization leading to fibrous scarring. This article reports the unusual case of rapid development of a macular hole soon after the onset of characteristic clinical features. Despite anti-inflammatory treatment and successful macular hole surgery the visual function remained significantly impaired by secondary central retinal pigment epithelium changes.

  1. Segmentation of choroidal neovascularization in fundus fluorescein angiograms.

    Science.gov (United States)

    Abdelmoula, Walid M; Shah, Syed M; Fahmy, Ahmed S

    2013-05-01

    Choroidal neovascularization (CNV) is a common manifestation of age-related macular degeneration (AMD). It is characterized by the growth of abnormal blood vessels in the choroidal layer causing blurring and deterioration of the vision. In late stages, these abnormal vessels can rupture the retinal layers causing complete loss of vision at the affected regions. Determining the CNV size and type in fluorescein angiograms is required for proper treatment and prognosis of the disease. Computer-aided methods for CNV segmentation is needed not only to reduce the burden of manual segmentation but also to reduce inter- and intraobserver variability. In this paper, we present a framework for segmenting CNV lesions based on parametric modeling of the intensity variation in fundus fluorescein angiograms. First, a novel model is proposed to describe the temporal intensity variation at each pixel in image sequences acquired by fluorescein angiography. The set of model parameters at each pixel are used to segment the image into regions of homogeneous parameters. Preliminary results on datasets from 21 patients with Wet-AMD show the potential of the method to segment CNV lesions in close agreement with the manual segmentation.

  2. Interactive segmentation for geographic atrophy in retinal fundus images.

    Science.gov (United States)

    Lee, Noah; Smith, R Theodore; Laine, Andrew F

    2008-10-01

    Fundus auto-fluorescence (FAF) imaging is a non-invasive technique for in vivo ophthalmoscopic inspection of age-related macular degeneration (AMD), the most common cause of blindness in developed countries. Geographic atrophy (GA) is an advanced form of AMD and accounts for 12-21% of severe visual loss in this disorder [3]. Automatic quantification of GA is important for determining disease progression and facilitating clinical diagnosis of AMD. The problem of automatic segmentation of pathological images still remains an unsolved problem. In this paper we leverage the watershed transform and generalized non-linear gradient operators for interactive segmentation and present an intuitive and simple approach for geographic atrophy segmentation. We compare our approach with the state of the art random walker [5] algorithm for interactive segmentation using ROC statistics. Quantitative evaluation experiments on 100 FAF images show a mean sensitivity/specificity of 98.3/97.7% for our approach and a mean sensitivity/specificity of 88.2/96.6% for the random walker algorithm.

  3. Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1.

    Science.gov (United States)

    Kersten, Hannah M; Roxburgh, Richard H; Child, Nicholas; Polkinghorne, Philip J; Frampton, Chris; Danesh-Meyer, Helen V

    2014-01-01

    A wide range of ocular abnormalities have been documented to occur in patients with myotonic dystrophy type 1. The objectives of this study were to investigate the macular and optic nerve morphology using optical coherence tomography in patients with myotonic dystrophy type 1. A total of 30 myotonic dystrophy type 1 patients and 28 controls were recruited for participation. All participants underwent a thorough ophthalmologic examination, including spectral-domain optical coherence tomography of the macula and retinal nerve fibre layer. Images were reviewed by a retinal specialist ophthalmologist, masked to the diagnosis of the participants. Average macular thickness was significantly greater in the myotonic dystrophy group compared to controls [327.3 μm vs. 308.5 μm (p myotonic dystrophy patient group (p = 0.0002): 48.2 % of myotonic dystrophy patient eyes had evidence of epiretinal membrane, compared with 12.5 % of control eyes. Examination revealed that 56.7 % of myotonic dystrophy patients had an epiretinal membrane in at least one eye. Visual acuity was reduced due to the presence of epiretinal membrane in six patient eyes and none of the control eyes. The presence of an epiretinal membrane was significantly correlated with increasing age in the patient group. We report an increased prevalence of epiretinal membrane in the myotonic dystrophy type 1 group. This may be a previously under-recognised form of visual impairment in this group. Epiretinal membranes can be treated surgically. We suggest that, in addition to a comprehensive clinical examination, optical coherence tomography examination is implemented as part of an ophthalmological assessment for the myotonic dystrophy type 1 patient with reduced visual acuity.

  4. Infrared imaging enhances retinal crystals in Bietti’s crystalline dystrophy

    Directory of Open Access Journals (Sweden)

    Brar VS

    2015-04-01

    Full Text Available Vikram S Brar, William H Benson Department of Ophthalmology, Medical College of Virginia Campus, Virginia Commonwealth University School of Medicine, Richmond, VA, USA Abstract: Infrared imaging dramatically increased the number of crystalline deposits visualized compared with clinical examination, standard color fundus photography, and red free imaging in patients with Bietti’s crystalline dystrophy. We believe that this imaging modality significantly improves the sensitivity with which these lesions are detected, facilitating earlier diagnosis and may potentially serve as a prognostic indicator when examined over time. Keywords: Bietti’s crystalline dystrophy, infrared imaging, spectral domain optical coherence tomography

  5. Bilateral macular hole secondary to remote lightning strike

    Directory of Open Access Journals (Sweden)

    Rao Krishna

    2009-01-01

    Full Text Available We report a case of a 16-year-old girl, who was struck by lightning, and experienced blurred vision in the right eye (RE immediately following the episode. She reported for ophthalmic evaluation two months later. Examination revealed relative afferent pupillary defect in the RE. Posterior subcapsular cataract was noted in both eyes. Fundus examination revealed macular holes and multiple areas of RPE hyperpigmentation in the periphery in both eyes. Fundus fluorescein angiography showed increased choroidal transmission with early fluorescence and late fading in the foveal region and retinal pigment epithelium (RPE stippling in the periphery in both eyes. This is the first case report of such nature in India to the best of our knowledge.

  6. Differentiating full thickness macular holes from impending macular holes and macular pseudoholes

    OpenAIRE

    Tsujikawa, M; Ohji, M; Fujikado, T.; Saito, Y.; Motokura, M.; Ishimoto, I.; Tano, Y.

    1997-01-01

    AIMS—The reliability of scanning laser ophthalmoscope (SLO) microperimetry in differentiating full thickness macular holes from macular pseudoholes and impending macular holes was evaluated.
METHODS—106 eyes with the clinical diagnosis of full thickness macular holes, macular pseudoholes, and impending (stage 1) macular holes were examined for the presence of deep or relative scotoma using SLO microperimetry. The relation between these scotomas and the clinical diagnosis was studied.
RESULTS—...

  7. Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation

    OpenAIRE

    Min Ji Kang; Hye Bin Yim; Hyung Bin Hwang

    2016-01-01

    We report two cases of myotonic dystrophy in one family; both diagnosed from genetic analysis following ophthalmic indications, but before the manifestation of systemic symptoms. A 39-year-old female visited our clinic for routine examination. Mild ptosis, sluggish pupillary response, and bilateral snowflake cataracts were found. Fundus examination revealed an increased cup-to-disc ratio (CDR) in both eyes and a defect in the retinal nerve fiber layer in the right eye. Intraocular pressure wa...

  8. OPTICAL COHERENCE TOMOGRAPHY CHARACTERISTICS OF MACULAR EDEMA AND HARD EXUDATES AND THEIR ASSOCIATION WITH LIPID SERUM LEVELS IN TYPE 2 DIABETES.

    Science.gov (United States)

    Davoudi, Samaneh; Papavasileiou, Evangelia; Roohipoor, Ramak; Cho, Heeyoon; Kudrimoti, Shreyas; Hancock, Heather; Hoadley, Suzanne; Andreoli, Christopher; Husain, Deeba; James, Maurice; Penman, Alan; Chen, Ching J; Sobrin, Lucia

    2016-09-01

    To determine whether hyperreflective foci (HF) and macular thickness on spectral domain ocular coherence tomography are associated with lipid levels in patients with Type 2 diabetes. Two hundred and thirty-eight participants from four sites had fundus photographs and spectral domain ocular coherence tomography images graded for hard exudates and HF, respectively. Regression models were used to determine the association between serum lipid levels and 1) presence of HF and hard exudates and 2) central subfield macular thickness, central subfield macular volume, and total macular volume. All patients with hard exudates on fundus photographs had corresponding HF on spectral domain ocular coherence tomography, but 57% of patients with HF on optical coherence tomography did not have hard exudates detected in their fundus photographs. Presence of HF was associated with higher total cholesterol (odds ratio = 1.13, 95% confidence interval = 1.01-1.27, P = 0.03) and higher low-density lipoprotein levels (odds ratio = 1.17, 95% confidence interval = 1.02-1.35, P = 0.02) in models adjusting for other risk factors. The total macular volume was also associated with higher total cholesterol (P = 0.009) and triglyceride (P = 0.02) levels after adjusting for other risk factors. Higher total and low-density lipoprotein cholesterol were associated with presence of HF on spectral domain ocular coherence tomography. Total macular volume was associated with higher total cholesterol and triglyceride levels.

  9. Imaging geographic atrophy in age-related macular degeneration.

    Science.gov (United States)

    Göbel, Arno P; Fleckenstein, Monika; Schmitz-Valckenberg, Steffen; Brinkmann, Christian K; Holz, Frank G

    2011-01-01

    Advances in retinal imaging technology have largely contributed to the understanding of the natural history, prognostic markers and disease mechanisms of geographic atrophy (GA) due to age-related macular degeneration. There is still no therapy available to halt or slow the disease process. In order to evaluate potential therapeutic effects in interventional trials, there is a need for precise quantification of the GA progression rate. Fundus autofluorescence imaging allows for accurate identification and segmentation of atrophic areas and currently represents the gold standard for evaluating progressive GA enlargement. By means of high-resolution spectral-domain optical coherence tomography, distinct microstructural alterations related to GA can be visualized.

  10. Fundus reflectance : historical and present ideas

    NARCIS (Netherlands)

    Berendschot, T.T.J.M.; Delint, P.J.; Norren, D. van

    2003-01-01

    In 1851 Helmholtz introduced the ophthalmoscope. The instrument allowed the observation of light reflected at the fundus. The development of this device was one of the major advancements in ophthalmology. Yet ophthalmoscopy allows only qualitative observation of the eye. Since 1950 attempts were mad

  11. Fundus autofluorescence applications in retinal imaging

    Directory of Open Access Journals (Sweden)

    Andrea Gabai

    2015-01-01

    Full Text Available Fundus autofluorescence (FAF is a relatively new imaging technique that can be used to study retinal diseases. It provides information on retinal metabolism and health. Several different pathologies can be detected. Peculiar AF alterations can help the clinician to monitor disease progression and to better understand its pathogenesis. In the present article, we review FAF principles and clinical applications.

  12. Evaluation of Limb-Girdle Muscular Dystrophy

    Science.gov (United States)

    2014-03-06

    Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency); Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency); Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)

  13. Vitrectomy for bilateral macular schisis without apparent optic disc anomalies

    Science.gov (United States)

    Andonegui, José; Maya, José Ramón; Echeverría, Marta; Alcaine, Araceli

    2016-01-01

    A 78-year-old man complained of bilateral visual acuity loss. Optical coherence tomography examination showed bilateral macular schisis with fluid accumulation in the external retinal layers without vitreous traction. Fundus examination and fluorescein angiography were normal in both eyes. Both eyes were treated by phacoemulsification, intraocular lens implantation, and vitrectomy without laser, gas exchange, or retinal fenestration. Slow and progressive fluid resorption and improvement in VA were observed in both eyes. Macular schisis similar to the one associated with optic disc anomalies is a possibility in patients without apparent disc anomalies. Vitrectomy without laser, gas, or retinal fenestration may be a good therapeutic option even in patients with a PVD preoperatively. PMID:27703873

  14. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Tips & Prevention News Ask an Ophthalmologist Patient Stories Español Eye Health / Eye Health A-Z Macular Edema ... for Thinning Retina Mar 10, 2014 Leer en Español: ¿Qué Es un Edema Macular? Find an Ophthalmologist ...

  15. Comparison of Cysts in Red and Green Images for Diabetic Macular Edema.

    Science.gov (United States)

    Alhamami, Mastour A; Elsner, Ann E; Malinovsky, Victor E; Clark, Christopher A; Haggerty, Bryan P; Ozawa, Glen Y; Cuadros, Jorge A; Baskaran, Karthikeyan; Gast, Thomas J; Litvin, Taras V; Muller, Matthew S; Brahm, Shane G; Young, Stuart B; Miura, Masahiro

    2017-02-01

    To investigate whether cysts in diabetic macular edema are better visualized in the red channel of color fundus camera images, as compared with the green channel, because color fundus camera screening methods that emphasize short-wavelength light may miss cysts in patients with dark fundi or changes to outer blood retinal barrier. Fundus images for diabetic retinopathy photoscreening were acquired for a study with Aeon Imaging, EyePACS, University of California Berkeley, and Indiana University. There were 2047 underserved, adult diabetic patients, of whom over 90% self-identified as a racial/ethnic identify other than non-Hispanic white. Color fundus images at nominally 45 degrees were acquired with a Canon Cr-DGi non-mydriatic camera (Tokyo, Japan) then graded by an EyePACS certified grader. From the 148 patients graded to have clinically significant macular edema by the presence of hard exudates in the central 1500 μm of the fovea, we evaluated macular cysts in 13 patients with cystoid macular edema. Age ranged from 33 to 68 years. Color fundus images were split into red, green, and blue channels with custom Matlab software (Mathworks, Natick, MA). The diameter of a cyst or confluent cysts was quantified in the red-channel and green-channel images separately. Cyst identification gave complete agreement between red-channel images and the standard full-color images. This was not the case for green-channel images, which did not expose cysts visible with standard full-color images in five cases, who had dark fundi. Cysts appeared more numerous and covered a larger area in the red channel (733 ± 604 μm) than in the green channel (349 ± 433 μm, P < .006). Cysts may be underdetected with the present fundus camera methods, particularly when short-wavelength light is emphasized or in patients with dark fundi. Longer wavelength techniques may improve the detection of cysts and provide more information concerning the early stages of diabetic macular edema or the outer

  16. Comparison of Cysts in Red and Green Images for Diabetic Macular Edema

    Science.gov (United States)

    Alhamami, Mastour A.; Elsner, Ann E.; Malinovsky, Victor E.; Clark, Christopher A.; Haggerty, Bryan P.; Ozawa, Glen Y.; Cuadros, Jorge A.; Baskaran, Karthikeyan; Gast, Thomas J.; Litvin, Taras V.; Muller, Matthew S.; Brahm, Shane G.; Young, Stuart B.; Miura, Masahiro

    2017-01-01

    ABSTRACT Purpose To investigate whether cysts in diabetic macular edema are better visualized in the red channel of color fundus camera images, as compared with the green channel, because color fundus camera screening methods that emphasize short-wavelength light may miss cysts in patients with dark fundi or changes to outer blood retinal barrier. Methods Fundus images for diabetic retinopathy photoscreening were acquired for a study with Aeon Imaging, EyePACS, University of California Berkeley, and Indiana University. There were 2047 underserved, adult diabetic patients, of whom over 90% self-identified as a racial/ethnic identify other than non-Hispanic white. Color fundus images at nominally 45 degrees were acquired with a Canon Cr-DGi non-mydriatic camera (Tokyo, Japan) then graded by an EyePACS certified grader. From the 148 patients graded to have clinically significant macular edema by the presence of hard exudates in the central 1500 μm of the fovea, we evaluated macular cysts in 13 patients with cystoid macular edema. Age ranged from 33 to 68 years. Color fundus images were split into red, green, and blue channels with custom Matlab software (Mathworks, Natick, MA). The diameter of a cyst or confluent cysts was quantified in the red-channel and green-channel images separately. Results Cyst identification gave complete agreement between red-channel images and the standard full-color images. This was not the case for green-channel images, which did not expose cysts visible with standard full-color images in five cases, who had dark fundi. Cysts appeared more numerous and covered a larger area in the red channel (733 ± 604 μm) than in the green channel (349 ± 433 μm, P < .006). Conclusions Cysts may be underdetected with the present fundus camera methods, particularly when short-wavelength light is emphasized or in patients with dark fundi. Longer wavelength techniques may improve the detection of cysts and provide more information concerning the early

  17. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.

  18. Modulation of Stem Cells Differentiation and Myostatin as an Approach to Counteract Fibrosis in Muscle Dystrophy and Regeneration after Injury

    Science.gov (United States)

    2008-03-01

    sclerosis, liver cirrhosis, progressive kidney disease , cardiovas- cular disease , pulmonary fibroses, macular degeneration , and muscle dystrophies...Plasminogen activator inhibitor-1 in chronic kidney disease : evidence and mechanisms of action. Journal of the American Society of Nephrology 17 2999... degeneration of the muscle, that would also facilitate the differentiation of transplanted dystrophin+ (D+) muscle-derived stem cells (MDSC), in

  19. Functional impairment with minimal macular damage in femtosecond laser plasma injury: case report

    OpenAIRE

    2013-01-01

    A 26 years old female patient was examined twenty-four hours after observing laser-induced plasma formation in a process of nanoparticle production complaining of bilateral central scotoma. The ophthalmologic evaluation included dilated fundus observation, fluorescein angiography, and optical coherence tomography (OCT). In the first assessment, visual acuity was 20/20 in the right eye and 20/25 in the left eye. Ophthalmologic evaluation revealed colour changes in the macular region of both ey...

  20. Learning about Myotonic Dystrophy

    Science.gov (United States)

    ... of Genetic Tests Genomics and Health Disparities Genetic Discrimination Human Subjects Research Informed Consent for Genomics Research ... with myotonic dystrophy may have a characteristic facial appearance of wasting and weakness of the jaw and ...

  1. Muscular Dystrophy Association

    Science.gov (United States)

    ... Families Live Unlimited Read More Deflazacort demonstrates significant muscle strength improvement in DMD Read More NDA Filing ... the Boot to Support Kids and Adults with Muscular Dystrophy, ALS and Related Diseases Read More Visit ...

  2. Ullrich Congenital Muscular Dystrophy

    OpenAIRE

    2011-01-01

    ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure espe...

  3. Cystoid macular edema

    Directory of Open Access Journals (Sweden)

    Tryfon G Rotsos

    2008-10-01

    Full Text Available Tryfon G Rotsos1, Marilita M Moschos21Medical Retina Service, Moorfields Eye Hospital, London, UK; 2Department of Ophthalmology, University of Athens, GreeceAbstract: We review the epidemiology, pathophysiology, and etiology of cystoid macular edema (CME. Inflammatory, diabetic, post-cataract, and macular edema due to age-related macular degeneration is described. The role of chronic inflammation and hypoxia and direct macular traction is evaluated in each case according to different views from the literature. The different diagnostic methods for evaluating the edema are described. Special attention is given to fluoroangiography and the most modern methods of macula examination, such as ocular coherence tomography and multifocal electroretinography. Finally, we discuss the treatment of cystoid macular edema in relation to its etiology. In this chapter we briefly refer to the therapeutic value of laser treatment especially in diabetic maculopathy or vitrectomy in some selected cases. Our paper is focused mainly on recent therapeutic treatment with intravitreal injection of triamcinolone acetonide and anti-VEGF factors like bevacizumab (Avastin, ranibizumab (Lucentis, pegaptamid (Macugen, and others. The goal of this paper is to review the current status of this treatment for macular edema due to diabetic maculopathy, central retinal vein occlusion and post-cataract surgery. For this reason the results of recent multicenter clinical trials are quoted, as also our experience on the use of intravitreal injections of anti-VEGF factors and we discuss its value in clinical practice.Keywords: cystoid macular edema, anti-VEGF, fluoroangiography, OCT, multifocal electroretinography

  4. A Method of Drusen Measurement Based on the Geometry of Fundus Reflectance

    Directory of Open Access Journals (Sweden)

    Barbazetto Irene

    2003-04-01

    Full Text Available Abstract Background The hallmarks of age-related macular degeneration, the leading cause of blindness in the developed world, are the subretinal deposits known as drusen. Drusen identification and measurement play a key role in clinical studies of this disease. Current manual methods of drusen measurement are laborious and subjective. Our purpose was to expedite clinical research with an accurate, reliable digital method. Methods An interactive semi-automated procedure was developed to level the macular background reflectance for the purpose of morphometric analysis of drusen. 12 color fundus photographs of patients with age-related macular degeneration and drusen were analyzed. After digitizing the photographs, the underlying background pattern in the green channel was leveled by an algorithm based on the elliptically concentric geometry of the reflectance in the normal macula: the gray scale values of all structures within defined elliptical boundaries were raised sequentially until a uniform background was obtained. Segmentation of drusen and area measurements in the central and middle subfields (1000 μm and 3000 μm diameters were performed by uniform thresholds. Two observers using this interactive semi-automated software measured each image digitally. The mean digital measurements were compared to independent stereo fundus gradings by two expert graders (stereo Grader 1 estimated the drusen percentage in each of the 24 regions as falling into one of four standard broad ranges; stereo Grader 2 estimated drusen percentages in 1% to 5% intervals. Results The mean digital area measurements had a median standard deviation of 1.9%. The mean digital area measurements agreed with stereo Grader 1 in 22/24 cases. The 95% limits of agreement between the mean digital area measurements and the more precise stereo gradings of Grader 2 were -6.4 % to +6.8 % in the central subfield and -6.0 % to +4.5 % in the middle subfield. The mean absolute

  5. Automatic differentiation of color fundus images containing drusen or exudates using a contextual spatial pyramid approach.

    Science.gov (United States)

    van Grinsven, Mark J J P; Theelen, Thomas; Witkamp, Leonard; van der Heijden, Job; van de Ven, Johannes P H; Hoyng, Carel B; van Ginneken, Bram; Sánchez, Clara I

    2016-03-01

    We developed an automatic system to identify and differentiate color fundus images containing no lesions, drusen or exudates. Drusen and exudates are lesions with a bright appearance, associated with age-related macular degeneration and diabetic retinopathy, respectively. The system consists of three lesion detectors operating at pixel-level, combining their outputs using spatial pooling and classification with a random forest classifier. System performance was compared with ratings of two independent human observers using human-expert annotations as reference. Kappa agreements of 0.89, 0.97 and 0.92 and accuracies of 0.93, 0.98 and 0.95 were obtained for the system and observers, respectively.

  6. Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia

    Directory of Open Access Journals (Sweden)

    Moloney TP

    2014-08-01

    Full Text Available Thomas P Moloney,1 Stephen O’Hagan,1 Lawrence Lee2,3 1Department of Ophthalmology, Cairns Hospital, Cairns, QLD, Australia; 2City Eye Centre, Brisbane, QLD, Australia; 3Associate Professor of Ophthalmology, School of Medicine, University of Queensland, Brisbane, QLD, Australia Abstract: Gyrate atrophy of the choroid and retina is a rare chorioretinal dystrophy inherited in an autosomal recessive pattern. We describe the first documented case of gyrate atrophy from Australia in a 56-year-old woman with a history of previous diagnosis of retinitis pigmentosa and worsening night vision in her right eye over several years. She was myopic and bilaterally pseudophakic, and fundus examination revealed pale optic discs and extensive peripheral chorioretinal atrophy exposing bare sclera bilaterally with only small islands of normal-appearing retina at each posterior pole. Visual field testing showed grossly constricted fields, blood testing showed hyperornithinemia, and further questioning revealed consanguinity between the patient’s parents. We then used the patient’s typical retinal findings of gyrate atrophy to demonstrate the potential use of ultrawide-field fundus photography and angiography in diagnosis and monitoring response in future treatment. Keywords: gyrate atrophy, ultrawide-field retinal photography, angiography, retinal photography, hyperornithinemia

  7. What Is Macular Edema?

    Medline Plus

    Full Text Available ... health and preserving your vision. Privacy Policy Related Studies Show Zika Virus May Cause More Serious Eye Damage in Babies Than Thought May 31, 2016 Study Compares Eylea, Lucentis and Avastin for Diabetic Macular ...

  8. What Is Macular Edema?

    Medline Plus

    Full Text Available ... or recognize a face. Macular edema develops when blood vessels in the retina are leaking fluids. The macula ... Your Laser Pointer Dangerous Enough to Cause Eye Injury? Dec 20, 2013 Study Finds Tablets Help People ...

  9. Multimodality imaging in macular telangiectasia 2: A clue to its pathogenesis

    Directory of Open Access Journals (Sweden)

    Lihteh Wu

    2015-01-01

    Full Text Available Macular telangiectasia type 2 also known as idiopathic perifoveal telangiectasia and juxtafoveolar retinal telangiectasis type 2A is an acquired bilateral neurodegenerative macular disease that manifests itself during the fifth or sixth decades of life. It is characterized by minimal dilatation of the parafoveal capillaries with graying of the retinal area involved, a lack of lipid exudation, right-angled retinal venules, refractile deposits in the superficial retina, hyperplasia of the retinal pigment epithelium, foveal atrophy, and subretinal neovascularization (SRNV. Our understanding of the disease has paralleled advances in multimodality imaging of the fundus. Optical coherence tomography (OCT images typically demonstrate the presence of intraretinal hyporeflective spaces that are usually not related to retinal thickening or fluorescein leakage. The typical fluorescein angiographic (FA finding is a deep intraretinal hyperfluorescent staining in the temporal parafoveal area. With time, the staining may involve the whole parafoveal area but does not extend to the center of the fovea. Long-term prognosis for central vision is poor, because of the development of SRNV or macular atrophy. Its pathogenesis remains unclear but multimodality imaging with FA, spectral domain OCT, adaptive optics, confocal blue reflectance and short wave fundus autofluorescence implicate Müller cells and macular pigment. Currently, there is no known treatment for this condition.

  10. Preliminary study of Conbercept injected intravitreally for the treatment of wet age-related macular degeneration

    Directory of Open Access Journals (Sweden)

    Ying Qin

    2017-08-01

    Full Text Available AIM:To observe the preliminary efficacy of conbercept injected intravitreally for the treatment of wet age-related macular degeneration(wAMD.METHODS:Seventeen wAMD patients(18 eyeswere selected to receive conbercept injection. All patients were given a single conbercept injection every month, 3 times. Before and after 1, 2, 3mo of the injection, the best corrected visual acuity(BCVA, intraocular pressure(IOP, measured by Non-contact tonometer, fundus photography, fundus fluorescein angiography(FFA, indocyanine green angiography(ICG, optical coherence tomography(OCTexamination and the complications incidence were compared.RESULTS:Three months after conbercept injection, the BCVA improved in 15 eyes(83%, stable in 3 eyes(17%. Before treatment, the average central macular thickness was 421.72±54.43μm, at 1 and 2 and 3mo after treatment, the average central macular thickness was 337.89±25.88μm, 293.56±26.87μm, 266.89±19.10μm respectively. There were significant differences compared with before and after injection(PCONCLUSION:Intravitreal injection conbercept for wAMD can significantly improve the visual function, reduce the macular edema and the leakage with higher safety and less complications. However the prolonged efficacy needs further observation.

  11. Cataracts and macular degeneration.

    Science.gov (United States)

    Shoch, D

    1979-09-01

    The intraocular lens restores general vision and some degree of independence and mobility to patients with dense cataracts and macular degeneration. The patient, however, must be repeatedly warned that fine central vision, particularly reading, will not be possible after the surgery. An aphakic spectacle leaves such patients a narrow band of vision when superimposed over the macular lesion, and contact lenses are too small for the patient to manage insertion without help.

  12. Fundus Autofluorescence Captured With a Nonmydriatic Retinal Camera in Vegetarians Versus Nonvegetarians.

    Science.gov (United States)

    Kommana, Sumana S; Padgaonkar, Pooja; Mendez, Nicole; Wu, Lesley; Szirth, Bernard; Khouri, Albert S

    2015-09-09

    A baseline level of lipofuscin in the retinal pigment epithelium (RPE) is inevitable with age, but increased levels due to increased oxidative stress can result in deleterious vision loss at older ages. As earlier detection of differences in levels can lead to superior preventative management, we studied the relationship between lipofuscin accumulation and dietary lifestyle (vegetarian vs. nonvegetarian) in the younger, healthy South Asian population using retinal fundus autofluorescence (FAF) imaging. In this pilot study, we examined 37 healthy subjects (average age 23 years ± 1) all undergoing similar stress levels as medical students at Rutgers New Jersey Medical School. Levels of lipofuscin concentrations were imaged using a FAF retinal camera (Canon CX-1). Two images (color and FAF) were captured of the left eye and included in the analysis. FAF quantitative scoring was measured in 2 regions of the captured image, the papillo-macular region (P) and the macula (M), by determining the grayscale score of a 35.5 mm(2) rectangle in the respective regions. Standardized scores (corrected to remove baseline fluorescence) were then obtained. Means, standard deviations, and t tests were performed for comparisons. Fundus autofluorescence scores of regions P and M were significantly different (P vegetarians had statistically significant lower levels of autofluorescence. These findings can have potential implications regarding long-term retinal health and risk for developing certain diseases over decades in subjects at risk for vision-threatening diseases. © 2015 Diabetes Technology Society.

  13. Differentiation of ocular fundus fluorophores by fluorescence lifetime imaging using multiple excitation and emission wavelengths

    Science.gov (United States)

    Hammer, M.; Schweitzer, D.; Schenke, S.; Becker, W.; Bergmann, A.

    2006-10-01

    Ocular fundus autofluorescence imaging has been introduced into clinical diagnostics recently. It is in use for the observation of the age pigment lipofuscin, a precursor of age - related macular degeneration (AMD). But other fluorophores may be of interest too: The redox pair FAD - FADH II provides information on the retinal energy metabolism, advanced glycation end products (AGE) indicate protein glycation associated with pathologic processes in diabetes as well as AMD, and alterations in the fluorescence of collagen and elastin in connective tissue give us the opportunity to observe fibrosis by fluorescence imaging. This, however, needs techniques able to differentiate particular fluorophores despite limited permissible ocular exposure as well as excitation wavelength (limited by the transmission of the human ocular lens to >400 nm). We present an ophthalmic laser scanning system (SLO), equipped with picosecond laser diodes (FWHM 100 ps, 446 nm or 468 nm respectively) and time correlated single photon counting (TCSPC) in two emission bands (500 - 560 nm and 560 - 700 nm). The decays were fitted by a bi-exponential model. Fluorescence spectra were measured by a fluorescence spectrometer fluorolog. Upon excitation at 446 nm, the fluorescence of AGE, FAD, and lipofuscin were found to peak at 503 nm, 525 nm, and 600 nm respectively. Accordingly, the statistical distribution of the fluorescence decay times was found to depend on the different excitation wavelengths and emission bands used. The use of multiple excitation and emission wavelengths in conjunction with fluorescence lifetime imaging allows us to discriminate between intrinsic fluorophores of the ocular fundus. Taken together with our knowledge on the anatomical structure of the fundus, these findings suggest an association of the short, middle and long fluorescence decay time to the retinal pigment epithelium, the retina, and connective tissue respectively.

  14. Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy

    Directory of Open Access Journals (Sweden)

    Sibel Doguizi

    2015-01-01

    Full Text Available Introduction. Gyrate atrophy is a rare genetical metabolic disorder affecting vision. Here, we report a 9-year-old boy with gyrate atrophy associated with bilateral macular edema at the time of diagnosis and the effect of long term metabolic control on macular edema. Case Presentation. A 9-year-old boy presented with a complaint of low visual acuity (best corrected visual acuity: 20/80 in both eyes, refractive error: −12.00 D. Dilated fundus examination revealed multiple bilateral, sharply defined, and scalloped chorioretinal atrophy areas in the midperipheral and peripheral zone. Spectral-domain optical coherence tomography revealed bilateral cystoid macular edema in both eyes. Serum ornithine level was high (622 μmol/L. An arginine-restricted diet reduced serum ornithine level (55 μmol/L. However, visual findings including macular edema remained unchanged in 2 years of follow-up. Conclusion. Arginine-restricted diet did not improve macular edema in our patient with gyrate atrophy. A more comprehensive understanding of the underlying factors for macular edema will lead to the development of effective therapies.

  15. Fundus imaging with a mobile phone: A review of techniques

    Directory of Open Access Journals (Sweden)

    Mahesh P Shanmugam

    2014-01-01

    Full Text Available Fundus imaging with a fundus camera is an essential part of ophthalmic practice. A mobile phone with its in-built camera and flash can be used to obtain fundus images of reasonable quality. The mobile phone can be used as an indirect ophthalmoscope when coupled with a condensing lens. It can be used as a direct ophthalmoscope after minimal modification, wherein the fundus can be viewed without an intervening lens in young patients with dilated pupils. Employing the ubiquitous mobile phone to obtain fundus images has the potential for mass screening, enables ophthalmologists without a fundus camera to document and share findings, is a tool for telemedicine and is rather inexpensive.

  16. Value of optical coherence tomography in the detection of macular pathology before the removal of silicone oil

    Directory of Open Access Journals (Sweden)

    Rashad MA

    2016-01-01

    Full Text Available Mohammad Ahmad Rashad, Ahmed Abdel Aliem Mohamed, Asmaa Ismail Ahmed Department of Ophthalmology, Faculty of Medicine, Ain Shams University, Cairo, Egypt Purpose: To assess the pathological macular changes with optical coherence tomography (OCT before the removal of silicone oil (SiO in eyes that had undergone pars plana vitrectomy for complicated forms of retinal detachment (RD.Patients and methods: Subjects included 48 patients (51 eyes with complicated RD including proliferative vitreoretinopathy, proliferative diabetic retinopathy, recurrent RD, penetrating trauma, uveitis, giant retinal tears, and macular holes. All the eyes had undergone SiO injection. Furthermore, all eyes had been planned for the removal of SiO 6–12 months after the primary surgery. Finally, all eyes had a fundus examination and OCT examination before the silicone oil removal.Results: OCT findings indicated epiretinal membrane in 41% of the eyes, macular edema in 17%, macular detachment in 13.5%, macular thinning in 13.5%, macular holes in 10%, and subretinal membranes in 2%. Preoperative OCT was normal in only 12% of the eyes, while a clinical fundus examination was normal in 43% (P<0.001. Eyes with normal OCT had significantly better mean logMAR (0.35 than eyes with pathological changes detected through OCT (1.28; P<0.001. Surgical modifications were made during the removal of SiO in 74.5% of the eyes.Conclusion: OCT detected significantly more pathological changes than a clinical fundus examination. This had an impact on both surgical step modification during the removal of SiO and predictability of visual outcome after the removal of SiO. Keywords: optical coherence tomography, silicone oil, pars plana vitrectomy, proliferative vitreoretinopathy, proliferative diabetic retinopathy

  17. X-82 to Treat Age-related Macular Degeneration

    Science.gov (United States)

    2017-01-12

    Age-Related Macular Degeneration (AMD); Macular Degeneration; Exudative Age-related Macular Degeneration; AMD; Macular Degeneration, Age-related, 10; Eye Diseases; Retinal Degeneration; Retinal Diseases

  18. DR HAGIS-a fundus image database for the automatic extraction of retinal surface vessels from diabetic patients.

    Science.gov (United States)

    Holm, Sven; Russell, Greg; Nourrit, Vincent; McLoughlin, Niall

    2017-01-01

    A database of retinal fundus images, the DR HAGIS database, is presented. This database consists of 39 high-resolution color fundus images obtained from a diabetic retinopathy screening program in the UK. The NHS screening program uses service providers that employ different fundus and digital cameras. This results in a range of different image sizes and resolutions. Furthermore, patients enrolled in such programs often display other comorbidities in addition to diabetes. Therefore, in an effort to replicate the normal range of images examined by grading experts during screening, the DR HAGIS database consists of images of varying image sizes and resolutions and four comorbidity subgroups: collectively defined as the diabetic retinopathy, hypertension, age-related macular degeneration, and Glaucoma image set (DR HAGIS). For each image, the vasculature has been manually segmented to provide a realistic set of images on which to test automatic vessel extraction algorithms. Modified versions of two previously published vessel extraction algorithms were applied to this database to provide some baseline measurements. A method based purely on the intensity of images pixels resulted in a mean segmentation accuracy of 95.83% ([Formula: see text]), whereas an algorithm based on Gabor filters generated an accuracy of 95.71% ([Formula: see text]).

  19. Glaucoma Detection From Fundus Image Using Opencv

    Directory of Open Access Journals (Sweden)

    K. Narasimhan

    2012-12-01

    Full Text Available This study proposes a semi automated method for glaucoma detection using CDR and ISNT ratio of a fundus image. CDR (Cup to Disc Ratio is ratio of area of Optic Cup to area of Optic Disc. For a patient with glaucoma Optic Cup size increases while the Optic Disc size remains same and hence CDR will be high for glaucoma patient than normal fundus image. The ROI of green plane is taken and K-Means clustering technique is recursively applied and Optic Disc and Optic Cup is segmented. Through elliptic fiiting, area of Optic Disc and Cup is determined and hence CDR is calculated. ISNT is another parameter used for the diagnosis of glaucoma which is determined through the ratio of area of blood vessels in Inferior Superior to Nasal Temporal side. Blood vessels will shift to Nasal side for glaucoma patients, hence value will be less for glaucoma patient than normal fundus image. Matched filter and Local entropy thresholding is applied to extract blood vessels. The code is programmed in C++ using OpenCV library functions. OpenCV (Open Source Computer Vision Library is a library of programming functions developed by Intel. Core, highgui, imgproc, ml are the main libraries used from OpenCV. The optimized functions in OpenCV increase the speed of operation and is very much suitable for real time mass screening purpose. A batch of 50 retinal images (25 normal set and 25 abnormal set obtained from the Aravind Eye Hospital, is used to assess the performance of the proposed system.

  20. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  1. GANGRENE OF THE FUNDUS OF STOMACH

    Directory of Open Access Journals (Sweden)

    Sribatsa Kumar

    2014-10-01

    Full Text Available : The stomach is well known for its rich vascular network which generally protects it from ischemia. So gangrene of the fundus of stomach is a rare event, Its cause has been attributed to gastric volvules, intrathoracic herniation of stomach through the diaphragm, psychogenic polyphagia resulting in massive gastric dilation, ingestion of corrosive materials, embolization of atherosclerotic plague, thrombosis of major arterial supply occlusion of gastric vessels by therapeutically injected foreign bodies and necrotizing gastritis caused by organisms. We report a case of gangrene of funds of stomach that appears to be caused by intake of bhanga. (cannabis sativa

  2. Limb girdle muscular dystrophies

    DEFF Research Database (Denmark)

    Vissing, John

    2016-01-01

    PURPOSE OF REVIEW: The aim of the study was to describe the clinical spectrum of limb girdle muscular dystrophies (LGMDs), the pitfalls of the current classification system for LGMDs, and emerging therapies for these conditions. RECENT FINDINGS: Close to half of all LGMD subtypes have been...

  3. Central areolar choroidal dystrophy.

    NARCIS (Netherlands)

    Boon, C.J.F.; Klevering, B.J.; Cremers, F.P.M.; Zonneveld-Vrieling, M.N.; Theelen, T.; Hollander, A.I. den; Hoyng, C.B.

    2009-01-01

    OBJECTIVE: To describe the clinical characteristics, follow-up data and molecular genetic background in a large group of patients with central areolar choroidal dystrophy (CACD). DESIGN: Retrospective case series study. PARTICIPANTS: One hundred three patients with CACD from the Netherlands. METHODS

  4. Macular oedema due to letrozole: a first case report.

    Science.gov (United States)

    Moschos, Marilita M; Chatziralli, Irini P; Zagouri, Flora; Zografos, George C

    2012-11-01

    A 72-year-old woman presented with unexplained, progressive, painless visual loss in the right eye during the past six months. At presentation visual acuity (VA) was 3/60 in the right eye and 6/6 in the left eye. Anterior segment examination and intraocular pressures were normal. Dilated fundoscopy revealed significant macular oedema in the right eye and a normal fundus appearance in the left eye. Her medical history was noteworthy for breast ductal carcinoma in situ, for which she had undergone right mastectomy three years earlier. She had not received chemotherapy or radiotherapy but she had been under treatment with letrozole 2.5 mg/day over the past three years. She did not receive any other medication. Optical coherence tomography showed intraretinal fluid and a significant increase in retinal thickness in the foveal and parafoveal areas, while fluorescein angiography detected foveal hyperfluorescence and leakage of the dye in the late phase. Multifocal electroretinogram showed a decreased response in both eyes. In suspicion of letrozole-related retinopathy, the patient was advised to stop the medication. The patient agreed to receive an intravitreal injection of 0.05 ml/0.5 mg ranibizumab. One month later, VA in the right eye was 6/9 and macular oedema had apparently improved. This is the first reported case of letrozole-associated macular oedema treated with intravitreal ranibizumab.

  5. Differentiating full thickness macular holes from impending macular holes and macular pseudoholes

    Science.gov (United States)

    Tsujikawa, M.; Ohji, M.; Fujikado, T.; Saito, Y.; Motokura, M.; Ishimoto, I.; Tano, Y.

    1997-01-01

    AIMS—The reliability of scanning laser ophthalmoscope (SLO) microperimetry in differentiating full thickness macular holes from macular pseudoholes and impending macular holes was evaluated.
METHODS—106 eyes with the clinical diagnosis of full thickness macular holes, macular pseudoholes, and impending (stage 1) macular holes were examined for the presence of deep or relative scotoma using SLO microperimetry. The relation between these scotomas and the clinical diagnosis was studied.
RESULTS—Deep and relative scotomas were detected in all 57 eyes with clinically defined full thickness macular holes. In contrast, among 49 eyes diagnosed with macular pseudoholes or impending macular holes, no deep and only one relative scotoma was observed. The sensitivity of the presence of a deep scotoma as an indicator of the clinical diagnosis of a full thickness macular hole was 100% (57 of 57), and the specificity was 100% (49 of 49). The sensitivity of the presence of a relative scotoma was 100% (57 of 57) and the specificity was 98.0% (48 of 49).
CONCLUSION—With SLO microperimetry, full thickness macular holes can be precisely and objectively distinguished from other conditions that mimic macular holes.

 PMID:9059244

  6. Dorzolamide Chlorhydrate Versus Acetazolamide in the Management of Chronic Macular Edema in Patients with Retinitis Pigmentosa: Description of Three Case Reports

    Science.gov (United States)

    Pacella, Elena; Arrico, Loredana; Santamaria, Valentina; Turchetti, Paolo; Carbotti, Maria Rosaria; La Torre, Giuseppe; Pacella, Fernanda

    2014-01-01

    AIMS To assess the efficacy of topical dorzolamide for treating cystoid macular edema in patients with retinitis pigmentosa and minimize the secondary effects of maintenance therapy in patients with retinitis pigmentosa (RP) who present with chronic microcystic macular edema. METHODS To replace acetazolamide systemic treatment, with a topical treatment using 2% dorzolamide in three patients. The methods performed were OCT scan with a Spectralis HRA-OCT, for the measurement of macular thickness and morphology; best corrected visual acuity was assessed using Early Treatment Diabetic Retinopathy Study (ETDRS), was assessed slit-lamp biomicroscopy, ocular tonometry, fundus biomiocrosopy, and color fundus photography. This therapeutic protocol has been applied and described in three patients. RESULTS In all three tested patients, following the administration of dorzolamide in eye drop, we observed a remarkable decrease in macular edema, almost comparable to that obtained with acetazolamide per os. CONCLUSION The study confirms the anti-edematogenic effect of topical dorzolamide in RP with recurring macular cysts, as this can have a favorable response with topical dorzolamide. In all the three examined patients, the instillation of topical dorzolamide caused a remarkable reduction in their macular edema, as highlighted on OCT. PMID:24932106

  7. Visual Function and Its Relationship with Severity of Early, and Activity of Neovascular, Age-Related Macular Degeneration

    OpenAIRE

    Loughman, James; Sabour-Pickett, Sarah; Nolan, John M.; Klein, Barbara; Klein, Ron; Beatty, Stephen

    2015-01-01

    Purpose: To investigate the relationship between visual function and severity of early age-related macular degeneration (AMD) and activity of neovascular (nv-) AMD. Methods: The following data was collected from 66 eyes of 66 subjects with early AMD and 47 eyes of 47 subjects with active nv-AMD: corrected distance visual acuity (CDVA); contrast sensitivity (CS); glare disability (GD); and retinotopic ocular sensitivity (ROS) of the central 5° of the retina, by microperimetry. Fundus photog...

  8. Genetics Home Reference: Bietti crystalline dystrophy

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Bietti crystalline dystrophy Bietti crystalline dystrophy Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Bietti crystalline dystrophy is a disorder in which numerous ...

  9. Do it yourself smartphone fundus camera – DIYretCAM

    Directory of Open Access Journals (Sweden)

    Biju Raju

    2016-01-01

    Full Text Available This article describes the method to make a do it yourself smartphone-based fundus camera which can image the central retina as well as the peripheral retina up to the pars plana. It is a cost-effective alternative to the fundus camera.

  10. Diabetic Macular Edema

    Science.gov (United States)

    Lobo, Conceição; Pires, Isabel; Cunha-Vaz, José

    The optical coherence tomography (OCT), a noninvasive and noncontact diagnostic method, was introduced in 1995 for imaging macular diseases. In diabetic macular edema (DME), OCT scans show hyporeflectivity, due to intraretinal and/or subretinal fluid accumulation, related to inner and/or outer blood-retinal barrier breakdown. OCT tomograms may also reveal the presence of hard exudates, as hyperreflective spots with a shadow, in the outer retinal layers, among others. In conclusion, OCT is a particularly valuable diagnostic tool in DME, helpful both in the diagnosis and follow-up procedure.

  11. In-vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function

    Energy Technology Data Exchange (ETDEWEB)

    Choi, S; Doble, N; Hardy, J; Jones, S; Keltner, J; Olivier, S; Werner, J S

    2005-10-26

    To relate in-vivo microscopic retinal changes to visual function assessed with clinical tests in patients with various forms of retinal dystrophies. The UC Davis Adaptive Optics (AO) Fundus Camera was used to acquire in-vivo retinal images at the cellular level. Visual function tests, consisting of visual field analysis, multifocal electroretinography (mfERG), contrast sensitivity and color vision measures, were performed on all subjects. Five patients with different forms of retinal dystrophies and three control subjects were recruited. Cone densities were quantified for all retinal images. In all images of diseased retinas, there were extensive areas of dark space between groups of photoreceptors, where no cone photoreceptors were evident. These irregular features were not seen in healthy retinas, but were characteristic features in fundi with retinal dystrophies. There was a correlation between functional vision loss and the extent to which the irregularities occurred in retinal images. Cone densities were found to decrease with an associated decrease in retinal function. AO fundus photography is a reliable technique for assessing and quantifying the changes in the photoreceptor layer as disease progresses. Furthermore, this technique can be useful in cases where visual function tests give borderline or ambiguous results, as it allows visualization of individual photoreceptors.

  12. Inherited Retinal Degenerative Disease Registry

    Science.gov (United States)

    2016-03-21

    Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

  13. Incorporating privileged genetic information for fundus image based glaucoma detection.

    Science.gov (United States)

    Duan, Lixin; Xu, Yanwu; Li, Wen; Chen, Lin; Wing, Damon Wing Kee; Wong, Tien Yin; Liu, Jiang

    2014-01-01

    Visual features extracted from retinal fundus images have been increasingly used for glaucoma detection, as those images are generally easy to acquire. In recent years, genetic researchers have found that some single nucleic polymorphisms (SNPs) play important roles in the manifestation of glaucoma and also show superiority over fundus images for glaucoma detection. In this work, we propose to use the SNPs to form the so-called privileged information and deal with a practical problem where both fundus images and privileged genetic information exist for the training subjects, while the test objects only have fundus images. To solve this problem, we present an effective approach based on the learning using privileged information (LUPI) paradigm to train a predictive model for the image visual features. Extensive experiments demonstrate the usefulness of our approach in incorporating genetic information for fundus image based glaucoma detection.

  14. 双眼先天性黄斑缺损1例%A case of congenital macular coloboma

    Institute of Scientific and Technical Information of China (English)

    杜聪睿; 黄秀蓉; 杨婷

    2015-01-01

    Congenital macular coloboma is a rare clinical fundus disease ,due to congenital abnormalities of the macular ,which seriously affects the patient's central vision ,often accompanied by strabismus or eye tremor .Most of the macular coloboma were not found at birth ,and in early childhood was found to be found to be in poor eyesight .Therefore ,in the clinical ,some patients with strabismus and amblyopia ,and the fundus and OCT examination ,can help to screen for the fundus diseases ,to avoid misdiagnosis and missed diagnosis of the disease .%先天性黄斑缺损是一种临床少见的眼底疾病,因黄斑部先天异常,严重影响患者中心视力,常伴有斜视或眼球震颤。大多数黄斑缺损在出生时未被发现,而在儿童早期因视力不佳而检查是被发现。故对于临床中一些因斜视、弱视来就诊的患者,行眼底及OC T检查,有助于筛查其有无眼底病变,避免此类疾病的误诊、漏诊。

  15. What Is Macular Edema?

    Medline Plus

    Full Text Available ... may be mild to severe, but in many cases, your peripheral (side) vision remains. Macular edema is often a complication of diabetic retinopathy , and is the most common form of vision loss for people with ... Related Studies Show Zika Virus May Cause More Serious Eye ...

  16. Bietti crystalline dystrophy: a morpho-functional evaluation.

    Science.gov (United States)

    Parravano, Mariacristina; Sciamanna, Marta; Giorno, Paola; Boninfante, Antonluca; Varano, Monica

    2012-02-01

    We report the clinical findings and macular function of a patient with Bietti crystalline dystrophy. A 39-year-old woman reported visual loss in both eyes and nyctalopia. A complete ophthalmological evaluation, retromode imaging, SD-OCT acquisition, MP1 microperimetry, and multifocal electroretinogram (mfERG) were performed. Microcrystalline deposits in the cornea and the retina with retinal pigment epithelial atrophy were observed. Retromode imaging revealed visualization of normal large choroidal vessels, cystoid macular edema, and small defined glistening lesions. SD-OCT showed changes in the outer retina with numerous microcrystalline deposits. Microperimetry showed an absolute scotoma involving the perimacular area but sparing of the fovea. In both eyes, mfERG analysis suggests a dysfunction of pre-ganglionic retinal elements detectable in the 20 central retinal degrees. The genetic characterization showed an homozygous mutation c.772C > T[p.Leu258Phe] in exon 6. Retromode imaging and SD-OCT were useful tools to determine the extent and the localization of the crystals. Microperimetry should allow evaluation of the progression of the macular changes.

  17. Quantitive study for retinal function before and after photocoagulation in patients with diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Rui-Xue Sun

    2017-03-01

    Full Text Available AIM: To study the retinal function in patients with diabetic macular edema after photocoagulation. METHODS: A total of 30 eyes in 19 patients with diabetic macular edema(DME, who were diagnosed through fundus fluorescein angiography, consecutively recruited from March 2010 to March 2014 and were treated with macular grid pattern photocoagulation. Multifocal electroretinogram(mfERGsystem(version 3.15was performed before and after photocoagulation therapy for 3mo. All data were statistically analyzed. RESULTS: The amplitude densities of a-ware and b-ware for the fovea increased after macular grid pattern photocoagulation therapy, and there were significantly changes relative to its preoperation(t=-3.7683, Pt=-3.6570, Pt=1.7103, P>0.05; t=1.5623, P>0.05 . Compared with pretreatment, the amplitude densities of a-ware and b-ware at macular were statistically larger(t=4.8337, Pt=-2.0376, Pt=-2.1892, Pt=-3.5024, Pt=-1.4387, P>0.05; t=-0.1766, P>0.05. It was significant longer in the latency of a-wave and b-wave at paramacular after photocoagulation(t=-2.0905, Pt=-2.5646, PCONCLUSION: The laser photocoagulation treatment for DME can improve the retinal function at fovea, which benefits the vision acuity. Unfortunately,it induces extensively damaging effects on the macula and paramacular.

  18. Perceptual learning in patients with macular degeneration

    Directory of Open Access Journals (Sweden)

    Tina ePlank

    2014-10-01

    Full Text Available Patients with age-related macular degeneration (AMD or hereditary macular dystrophies (JMD rely on an efficient use of their peripheral visual field. We trained eight AMD and five JMD patients to perform a texture-discrimination task (TDT at their preferred retinal locus (PRL used for fixation. Six training sessions of approximately one hour duration were conducted over a period of approximately 3 weeks. Before, during and after training twelve patients and twelve age-matched controls (the data from two controls had to be discarded later took part in three functional magnetic resonance imaging (fMRI sessions to assess training-related changes in the BOLD response in early visual cortex. Patients benefited from the training measurements as indexed by significant decrease (p=.001 in the stimulus onset asynchrony (SOA between the presentation of the texture target on background and the visual mask, and in a significant location specific effect of the PRL with respect to hit rate (p=.014. The following trends were observed: (i Improvement in Vernier acuity for an eccentric line-bisection task; (ii positive correlation between the development of BOLD signals in early visual cortex and initial fixation stability (r=0.531; (iii positive correlation between the increase in task performance and initial fixation stability (r=0.730. The first two trends were non-significant, whereas the third trend was significant at p=.014, Bonferroni corrected. Consequently, our exploratory study suggests that training on the TDT can enhance eccentric vision in patients with central vision loss. This enhancement is accompanied by a modest alteration in the BOLD response in early visual cortex.

  19. Macular thickness measured by stratus optical coherence tomography in patients with diabetes type 2 and mild nonproliferative retinopathy without clinical evidence of macular edema.

    Science.gov (United States)

    Pires, Isabel; Santos, Ana Rita; Nunes, Sandrina; Lobo, Conceição

    2013-01-01

    To evaluate macular thickness in eyes with mild nonproliferative diabetic retinopathy (NPDR), patients with diabetes type 2, NPDR level 20 or 35, and without evidence of clinical macular edema underwent best-corrected visual acuity assessment, color fundus photography and Stratus optical coherence tomography. Mean center point thickness (CPT) and mean central subfield (CSF) thickness were compared with those of a healthy control population. 410 eyes/patients aged 61.2 ± 8.3 years, and with glycosylated hemoglobin of 7.9 ± 1.5% were included. Mean CPT and CSF were 186.6 ± 28.4 and 215.2 ± 25 µm, respectively, significantly increased compared to healthy subjects (p < 0.001). CSF thickness was abnormally increased in 17.6% of the patients, with values within the normal range in 79.5%, and abnormally decreased in 2.9%. CPT and CSF thickness were significantly thicker in men. No systemic factors showed a significant association. A significant increase in the macular thickness was found in eyes/patients with mild NPDR without clinical macular edema; however, only 17.6% of the eyes/patients had abnormally increased values and less than 3% abnormally decreased values.

  20. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

    Science.gov (United States)

    Li, Anren; Jiao, Xiaodong; Munier, Francis L; Schorderet, Daniel F; Yao, Wenliang; Iwata, Fumino; Hayakawa, Mutsuko; Kanai, Atsushi; Shy Chen, Muh; Alan Lewis, Richard; Heckenlively, John; Weleber, Richard G; Traboulsi, Elias I; Zhang, Qingjiong; Xiao, Xueshan; Kaiser-Kupfer, Muriel; Sergeev, Yuri V; Hejtmancik, J Fielding

    2004-05-01

    Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. The BCD region of chromosome 4q35.1 was refined to an interval flanked centromerically by D4S2924 by linkage and haplotype analysis; mutations were found in the novel CYP450 family member CYP4V2 in 23 of 25 unrelated patients with BCD tested. The CYP4V2 gene, transcribed from 11 exons spanning 19 kb, is expressed widely. Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD.

  1. [Pathopshysiological mechanisms in macular edema].

    Science.gov (United States)

    Turlea, Cristian; Zolog, Ileana; Blăjan, Codruta; Roşca, C; Turlea, Magdalena; Munteanu, Mihnea; Boruga, Ovidiu

    2014-01-01

    The treatment of diabetic macular edema has known a fast development in the last 5 years where the transition from laser monotherapy to intravitreal pharmacotherapy is becoming standard practice. Intravitreal injections therapy is in a continuous development with promising positive results. The use of intratvitreal devices in the treatment of macular edema of vascular cause has become a viable alternative also in treating diabetic macular edema. Several clinical studies have revealed the superiority of intravitreal treatment versus laser monotherapy. This article is evaluating and reviewing present and future treatments used to combat diabetic macular edema. [corrected].

  2. Muscle diseases: the muscular dystrophies.

    Science.gov (United States)

    McNally, Elizabeth M; Pytel, Peter

    2007-01-01

    Dystrophic muscle disease can occur at any age. Early- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, and cardiac and respiratory function. Late-onset muscular dystrophies or myopathies may be mild and associated with slight weakness and an inability to increase muscle mass. The phenotype of muscular dystrophy is an endpoint that arises from a diverse set of genetic pathways. Genes associated with muscular dystrophies encode proteins of the plasma membrane and extracellular matrix, and the sarcomere and Z band, as well as nuclear membrane components. Because muscle has such distinctive structural and regenerative properties, many of the genes implicated in these disorders target pathways unique to muscle or more highly expressed in muscle. This chapter reviews the basic structural properties of muscle and genetic mechanisms that lead to myopathy and muscular dystrophies that affect all age groups.

  3. Multispectral imaging of the ocular fundus using light emitting diode illumination.

    Science.gov (United States)

    Everdell, N L; Styles, I B; Calcagni, A; Gibson, J; Hebden, J; Claridge, E

    2010-09-01

    We present an imaging system based on light emitting diode (LED) illumination that produces multispectral optical images of the human ocular fundus. It uses a conventional fundus camera equipped with a high power LED light source and a highly sensitive electron-multiplying charge coupled device camera. It is able to take pictures at a series of wavelengths in rapid succession at short exposure times, thereby eliminating the image shift introduced by natural eye movements (saccades). In contrast with snapshot systems the images retain full spatial resolution. The system is not suitable for applications where the full spectral resolution is required as it uses discrete wavebands for illumination. This is not a problem in retinal imaging where the use of selected wavelengths is common. The modular nature of the light source allows new wavelengths to be introduced easily and at low cost. The use of wavelength-specific LEDs as a source is preferable to white light illumination and subsequent filtering of the remitted light as it minimizes the total light exposure of the subject. The system is controlled via a graphical user interface that enables flexible control of intensity, duration, and sequencing of sources in synchrony with the camera. Our initial experiments indicate that the system can acquire multispectral image sequences of the human retina at exposure times of 0.05 s in the range of 500-620 nm with mean signal to noise ratio of 17 dB (min 11, std 4.5), making it suitable for quantitative analysis with application to the diagnosis and screening of eye diseases such as diabetic retinopathy and age-related macular degeneration.

  4. Effective study in the real-world study of intravitreal anti-VEGF drugs injection in the treatment of fundus diseases

    Directory of Open Access Journals (Sweden)

    Jian-Feng Xu

    2017-09-01

    Full Text Available AIM:To understand the clinic effect of intravitreal anti-vascular endothelial growth factor(VEGFdrugs injection in the treatment of fundus disease in the real-world study(RWS. METHODS: The clinical cases treated with anti-VEGF drugs in our department from September 2012 to June 2015 were enrolled in this study. Retrospective investigation was reviewed to the kinds of diseases, frequency, usage, efficacy, adverse reaction, and the effects on visual acuity, fundus and macular thickness which were treated with intravitreal anti-VEGF drugs injection. RESULTS: In 305 patients(340 eyestreated with anti-VEGF drugs, 53 patients(60 eyes, 17.6%were wet age-related macular degeneration(AMD, polypoidal choroidal vasculopathy(PCV16 cases(18 eyes, 5.3%, diabetic macular edema(DME120 cases(134 eyes, 39.4%, branch retinal vein occlusion(BRVOsecondary macular edema 61 cases(68 eyes, 20.0%, central retinal vein occlusion(CRVOsecondary macular edema 29 cases(32 eyes, 9.4%, idiopathic choroidal neovascularization(ICNV16 cases(18 eyes, 5.3%, high myopia with choroid neovascularization 4 cases(4 eyes, 1.2%, neovascular glaucoma 4 cases(4 eyes, 1.2%, retinal angiomatous proliferation(RAP1 cases(1 eyes, 0.2%and optic papillary neovascularization 1 cases(1 eyes, 0.2%. The minimum age was 16 years old, and the maximum age 90 years old. There were 247 cases(275 eyes, 80.9%were treated with intravitreal ranibizumab injection, 58 cases(65 eyes, 19.1%intravitreal conbercept injection. The time number of all patients accepted anti-VEGF drugs treatment was 465, with an average of 1.7 times per eye. Which, the "3 + PRN" treatment method in 98 patients(109 eyes, 32.1%, "1 + PRN" treatment in 207 patients(231 eyes, 67.9%. 69 cases(77 eyes, 22.6%were used alone to receive anti-VEGF drugs therapy, 10 cases(11 eyes, 3.2%combined with intravitreal triamcinolone injection(TA, 35 cases(39 eyes, 11.5%combined with vitrectomy, 26 cases(29 eyes, 8.5%combined with photodynamic treatment

  5. Fundus albipunctatus associated with compound heterozygous mutations in RPE65

    DEFF Research Database (Denmark)

    Schatz, Patrik; Preising, Markus; Lorenz, Birgit

    2011-01-01

    To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations.......To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations....

  6. Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.

    Science.gov (United States)

    Ozgül, R K; Bozkurt, B; Kiratli, H; Oğüş, A

    2006-07-01

    Leber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which causes severe visual impairment in early childhood. Recent molecular genetic studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, RPGRIP1, TULP1, LCA3, LCA5, and LCA9) to LCA. LCA5 is a new locus, which maps to the 6q11-q16 chromosomal region and was found to be associated with macular coloboma-type LCA in a Pakistani family. Herein, we describe the molecular genetic features of a consanguineous Turkish family in which four children have macular coloboma-type LCA. Haplotype analysis was performed on the DNA of the family members using microsatellite markers against GUCY2D, RPE65, and LCA5. Genomic DNA was screened for mutations by means of single-strand conformational polymorphism (SSCP) analysis in exons of the RPE65 and CRX genes. In haplotype analysis, no linkage to LCA5 or GUCY2D loci was detected. None of the tested markers showed homozygosity or segregation between affected siblings. PCR-SSCP mutation analysis revealed no mutations in the screened RPE65 and CRX genes. We excluded LCA5 as the genetic cause of macular coloboma-type LCA in this Turkish family. Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma.

  7. Nonmydriatic ultra-wide-field scanning laser ophthalmoscopy (Optomap) versus two-field fundus photography in diabetic retinopathy.

    Science.gov (United States)

    Liegl, Raffael; Liegl, Kristine; Ceklic, Lala; Haritoglou, Christos; Kampik, Anselm; Ulbig, Michael W; Kernt, Marcus; Neubauer, Aljoscha S

    2014-01-01

    The purpose of this study was to investigate the diagnostic properties of a 2-laser wavelength nonmydriatic 200° ultra-wide-field scanning laser ophthalmoscope (SLO) versus mydriatic 2-field 45° color fundus photography (EURODIAB standard) for assessing diabetic retinopathy (DR). A total of 143 consecutive eyes of patients with different levels of DR were graded regarding DR level and macular edema based on 2-field color photographs or 1 Optomap Panoramic 200 SLO image. All SLO images were nonmydriatic and all photographs mydriatic. Grading was performed masked to patient and clinical data. Based on photography, 20 eyes had no DR, 44 had mild, 18 moderate and 42 severe nonproliferative DR, and 19 eyes had proliferative DR. Overall correlation for grading DR level compared to Optomap SLO was moderate with kappa 0.54 (p photography need to be confirmed in further studies.

  8. Learning deep similarity in fundus photography

    Science.gov (United States)

    Chudzik, Piotr; Al-Diri, Bashir; Caliva, Francesco; Ometto, Giovanni; Hunter, Andrew

    2017-02-01

    Similarity learning is one of the most fundamental tasks in image analysis. The ability to extract similar images in the medical domain as part of content-based image retrieval (CBIR) systems has been researched for many years. The vast majority of methods used in CBIR systems are based on hand-crafted feature descriptors. The approximation of a similarity mapping for medical images is difficult due to the big variety of pixel-level structures of interest. In fundus photography (FP) analysis, a subtle difference in e.g. lesions and vessels shape and size can result in a different diagnosis. In this work, we demonstrated how to learn a similarity function for image patches derived directly from FP image data without the need of manually designed feature descriptors. We used a convolutional neural network (CNN) with a novel architecture adapted for similarity learning to accomplish this task. Furthermore, we explored and studied multiple CNN architectures. We show that our method can approximate the similarity between FP patches more efficiently and accurately than the state-of- the-art feature descriptors, including SIFT and SURF using a publicly available dataset. Finally, we observe that our approach, which is purely data-driven, learns that features such as vessels calibre and orientation are important discriminative factors, which resembles the way how humans reason about similarity. To the best of authors knowledge, this is the first attempt to approximate a visual similarity mapping in FP.

  9. Macular pigment and fixation after macular translocation surgery

    NARCIS (Netherlands)

    Reinhard, Jens; Kanis, Martijn J.; Berendschot, Tos T. J. M.; Schoen, Christiane; Gelisken, Faik; Trauzettel-Klosinski, Susanne; Bartz-Schmidt, Karl U.; Zrenner, Eberhart

    2010-01-01

    Background After full macular translocation (MT) surgery with 3608 retinotomy, the fovea is rarely identifiable. Our aim was to verify the position of the fovea, to determine how patients fixate after MT and to examine distribution and optical density of macular pigment ( MP). Methods 9 patients aft

  10. Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation

    Directory of Open Access Journals (Sweden)

    Min Ji Kang

    2016-01-01

    Full Text Available We report two cases of myotonic dystrophy in one family; both diagnosed from genetic analysis following ophthalmic indications, but before the manifestation of systemic symptoms. A 39-year-old female visited our clinic for routine examination. Mild ptosis, sluggish pupillary response, and bilateral snowflake cataracts were found. Fundus examination revealed an increased cup-to-disc ratio (CDR in both eyes and a defect in the retinal nerve fiber layer in the right eye. Intraocular pressure was low, but within the normal range in both eyes. Because cataracts are characteristic of myotonic dystrophy, we suggested that her 14-year-old daughter, who did not have any systemic complaints, undergo ophthalmic examination. She also had mild ptosis and snowflake cataracts. Both patients underwent genetic evaluation and were diagnosed with myotonic dystrophy caused by unstable expansion of cytosine-thymine-guanine trinucleotide repeats in the dystrophia myotonica-protein kinase gene. Ophthalmologists can diagnose myotonic dystrophy based on clinical and genetic findings, before the manifestation of systemic abnormalities.

  11. Genetics Home Reference: age-related macular degeneration

    Science.gov (United States)

    ... Resources (3 links) BrightFocus Foundation: Macular Degeneration Treatment Macular Degeneration Partnership: Low Vision Rehabilitation Prevent Blindness America: Age-Related Macular Degeneration (AMD) ...

  12. Diagnostic fundus autofluorescence patterns in achromatopsia.

    Science.gov (United States)

    Fahim, Abigail T; Khan, Naheed W; Zahid, Sarwar; Schachar, Ira H; Branham, Kari; Kohl, Susanne; Wissinger, Bernd; Elner, Victor M; Heckenlively, John R; Jayasundera, Thiran

    2013-12-01

    To describe the unique diagnostic fundus autofluorescence (FAF) patterns in patients with achromatopsia and the associated findings on optical coherence tomography (OCT). Observational case series. We evaluated 10 patients with achromatopsia by means of best-corrected visual acuity (BCVA), ophthalmoscopy, Goldmann visual field, full-field electroretinography (ffERG), OCT, and FAF photography. FAF patterns were compared with patient age and foveal changes on OCT. Patients fell into two dichotomous age groups at the time of evaluation: six patients ranged from 11 to 23 years of age, and 3 patients ranged from 52 to 63 years of age. All patients had severely reduced photopic ffERG responses, including those exhibiting preserved foveal structure on OCT. The younger patients had absent to mild foveal atrophy on OCT, and four of the six demonstrated foveal and parafoveal hyperfluorescence on FAF. In addition, a 7-month-old child with compound heterozygous mutations in CNGA3 demonstrated similar foveal hyperfluorescence. The older patients demonstrated advanced foveal atrophy and punched-out foveal hypofluorescence with discrete borders on FAF imaging corresponding to the area of outer retinal cavitation on OCT. Foveal hyperfluorescence is an early sign of achromatopsia that can aid in clinical diagnosis. In our cohort, patients with achromatopsia demonstrated age-dependent changes in FAF, which are likely to be progressive and to correlate with foveal atrophy and cavitation on OCT. This finding may be useful in charting the natural course of the disease and in defining a therapeutic window for treatment. Copyright © 2013. Published by Elsevier Inc.

  13. Prevalence and Risk Factors of Early-Stage Age-Related Macular Degeneration in Patients Examined at a Health Promotion Center in Korea

    OpenAIRE

    Moon, Byung Gil; Joe, Soo Geun; Hwang, Jong-Uk; Kim, Hong Kyu; Choe, Jaewon; Yoon, Young Hee

    2012-01-01

    We evaluated the prevalence and risk factors for early age-related macular degeneration (AMD) in Koreans 50 yr of age or older who were examined at a single health promotion center. We retrospectively reviewed the records of 10,449 subjects who visited the center over a 6-month period. Fundus photography was performed on all subjects, and systematic risk factor analysis was conducted using a structured questionnaire. All patients (n = 322) were initially diagnosed with drusen or early AMD usi...

  14. Accidental macular hole following Neodymium:YAG posterior capsulotomy

    Directory of Open Access Journals (Sweden)

    Munteanu Mihnea

    2014-01-01

    Full Text Available Introduction. Posterior capsular opacification (PCO is the commonest complication of cataract surgery, occurring in up to one-third of patients in a period of five years. The treatment of choice is the Neodymium:YAG laser posterior capsulotomy. This treatment can be associated with several complications, some of them severe. A rare complication of this procedure is the accidental induced macular hole. Case Outline. A 54-year-old female patient was referred to our Department because of a severe loss of vision and a central scotoma at the right eye. The patient underwent a Nd:YAG posterior capsulotomy 2 days ago, for a PCO. The fundus examination at presentation revealed a round retinal defect in the macular region, a massive inferior preretinal hemorrhage and a mild vitreous hamorrhage. A 6-months follow-up of the case, including retinography and fluorescein angiography, is presented. Conclusion. Although the Nd:YAG laser capsulotomy is a safe, noninvasive, and effective outpatient procedure to improve vision hindered by PCO, it must be recognized that it carries a low but definite risk of serious complications. Physicians and patients should be aware of these rare but severe complications regarding this otherwise safe procedure. Fortunately, most of the complications related to this procedure are transient and can be managed by proper medication.

  15. Non-foveal macular holes after PPV for macular pucker

    Directory of Open Access Journals (Sweden)

    Abo EL Enin Mostafa

    2010-01-01

    Full Text Available Purpose: To describe six patients (six eyes who developed an eccentric macular hole after surgery for idiopathic epimacular proliferation. Materials and Methods: Review of records from six patients who developed eccentric macular holes postoperatively following vitrectomy in 107 consecutive cases with peeling of the epimacular proliferation and internal limiting membrane (ILM from June 2004 to January 2009, Results: Eccentric macular holes were developed from nine days to eight months (mean, 3.1 months after epimacular proliferation peeling. The ILM was peeled in addition to the epimacular proliferation in five of the six cases. Of the six eccentric macular holes, four were located temporal to the fovea, one was located superior to the fovea, and one was located nasal to the fovea. Final visual acuities after a mean follow-up period of 17.3 months were 20/20 in two eyes, 20/25 in one eye, 20/40 in two eyes, and 5/200 in one eye. The eye with the eccentric macular hole nasal to the fovea had the poorest final visual acuity of 5/200. Conclusion: Eccentric macular holes occurring after vitrectomy to remove epimacular proliferation is an uncommon postoperative finding. Various explanations have been suggested for the etiology of these holes, but there is no consensus. We suggested that the ILM tear should be initiated with a diamond dusted knife to reduce the likelihood of injury to the underlying Muller cells that may contribute to the formation of eccentric macular holes.

  16. Low-vision rehabilitation by means of MP-1 biofeedback examination in patients with different macular diseases: a pilot study.

    Science.gov (United States)

    Vingolo, Enzo M; Salvatore, Serena; Cavarretta, Sonia

    2009-06-01

    Macular disease is one of the main causes of visual impairment. We studied the efficacy of low-vision rehabilitation by means of MP-1 biofeedback examination in patients with different macular disease. Five patients were enrolled (3 female and 2 male, mean age 53.8 years) and a total of 9 eyes was examined: 2 eyes with vitelliform dystrophy, 1 with a post-traumatic macular scar, 2 with Stargardt disease, 2 with myopic macular degeneration, 2 with cone dystrophy. All the patients underwent the following tests: visual acuity, reading speed, fixation test, MP-1 microperimetry. Low-vision rehabilitation, which lasted 10 weeks, consisted of 10 training sessions of 10 min for each eye, performed once a week using the MP-1 biofeedback examination. Statistical analysis was performed using Student's t-test. p values less than 0.05 were considered statistically significant. After training all patients displayed an improvement in visual acuity, fixation behaviour, retinal sensitivity and reading speed. Fixation behaviour within the 2 degrees diameter circle improved and was statistically significant for reading speed (p = 0.01). Reading speed improved from a mean value of 64.3 to 92 words/min. Our results show that audio feedback can, by increasing attentional modulation, help the brain to fix the final preferred retinal locus. Audio feedback facilitates stimuli transmission between intraretinal neurons as well as between the retina and brain, which is where the highest level of stimuli processing occurs, thereby probably supporting a "remapping phenomenon".

  17. The Nonmydriatic Fundus Camera in Diabetic Retinopathy Screening: A Cost-Effective Study with Evaluation for Future Large-Scale Application

    Science.gov (United States)

    Scarpa, Giuseppe; Urban, Francesca; Tessarin, Michele; Gallo, Giovanni; Midena, Edoardo

    2016-01-01

    Aims. The study aimed to present the experience of a screening programme for early detection of diabetic retinopathy (DR) using a nonmydriatic fundus camera, evaluating the feasibility in terms of validity, resources absorption, and future advantages of a potential application, in an Italian local health authority. Methods. Diabetic patients living in the town of Ponzano, Veneto Region (Northern Italy), were invited to be enrolled in the screening programme. The “no prevention strategy” with the inclusion of the estimation of blindness related costs was compared with screening costs in order to evaluate a future extensive and feasible implementation of the procedure, through a budget impact approach. Results. Out of 498 diabetic patients eligible, 80% was enrolled in the screening programme. 115 patients (34%) were referred to an ophthalmologist and 9 cases required prompt treatment for either proliferative DR or macular edema. Based on the pilot data, it emerged that an extensive use of the investigated screening programme, within the Greater Treviso area, could prevent 6 cases of blindness every year, resulting in a saving of €271,543.32 (−13.71%). Conclusions. Fundus images obtained with a nonmydriatic fundus camera could be considered an effective, cost-sparing, and feasible screening tool for the early detection of DR, preventing blindness as a result of diabetes. PMID:27885337

  18. Automated segmentation of geographic atrophy in fundus autofluorescence images using supervised pixel classification.

    Science.gov (United States)

    Hu, Zhihong; Medioni, Gerard G; Hernandez, Matthias; Sadda, Srinivas R

    2015-01-01

    Geographic atrophy (GA) is a manifestation of the advanced or late stage of age-related macular degeneration (AMD). AMD is the leading cause of blindness in people over the age of 65 in the western world. The purpose of this study is to develop a fully automated supervised pixel classification approach for segmenting GA, including uni- and multifocal patches in fundus autofluorescene (FAF) images. The image features include region-wise intensity measures, gray-level co-occurrence matrix measures, and Gaussian filter banks. A [Formula: see text]-nearest-neighbor pixel classifier is applied to obtain a GA probability map, representing the likelihood that the image pixel belongs to GA. Sixteen randomly chosen FAF images were obtained from 16 subjects with GA. The algorithm-defined GA regions are compared with manual delineation performed by a certified image reading center grader. Eight-fold cross-validation is applied to evaluate the algorithm performance. The mean overlap ratio (OR), area correlation (Pearson's [Formula: see text]), accuracy (ACC), true positive rate (TPR), specificity (SPC), positive predictive value (PPV), and false discovery rate (FDR) between the algorithm- and manually defined GA regions are [Formula: see text], [Formula: see text], [Formula: see text], [Formula: see text], [Formula: see text], [Formula: see text], and [Formula: see text], respectively.

  19. Analysing the Progression Rates of Macular Lesions with Autofluorescence Imaging Modes in Dry Age-Related Macular Degeneration

    Directory of Open Access Journals (Sweden)

    Kenan Olcay

    2015-12-01

    Full Text Available Objectives: In this study we aimed to compare the sensitivity of blue-light fundus autofluorescence (FAF and near-infrared autofluorescence (NI-AF imaging for determining the progression rates of macular lesions in dry age-related macular degeneration (AMD. Materials and Methods: The study was designed retrospectively and included patients diagnosed with intermediate and advanced stage dry AMD. Best corrected visual acuities and FAF and NI-AF images were recorded in 46 eyes of 33 patients. Lesion borders were drawn manually on the images using Heidelberg Eye Explorer software and lesion areas were calculated by using Microsoft Excel software. BCVA and lesion areas were compared with each other. Results: Patients’ mean follow-up time was 30.98±13.30 months. The lesion area progression rates were 0.85±0.93 mm2/y in FAF and 0.93±1.01 mm2/y in NI-AF, showing statistically significant correlation with each other (r=0.883; p<0.01. Both imaging methods are moderately correlated with visual acuity impairment (r=0.362; p<0.05 and r=0.311; p<0.05, respectively. In addition, larger lesions showed higher progression rates than smaller ones in both imaging methods. Conclusion: NI-AF imaging is as important and effective as FAF imaging for follow-up of dry AMD patients.

  20. 11例迟发性视锥细胞营养不良患者的临床特征观察%Clinical features of 11 patients with late-onset cone dystrophy

    Institute of Scientific and Technical Information of China (English)

    王明扬; 王光璐

    2014-01-01

    Objective To observe the clinical features of late-onset cone dystrophy (LOCD).Methods Eleven patients (15 eyes) of LOCD were enrolled in this study.The patients included 7 males and 4 females.The age was ranged from 50 to 79 years,with a mean age of 60.2 years.There was no obvious photophobia and hemeralopia.The visual acuity was less than or equal to 0.05 in 4 eyes,0.06-0.2 in 5 eyes,0.3-1.0 in 6 eyes.Visual acuity,slit lamp microscope,indirect ophthalmoscopy,flash electroretinogram (FERG) and multifocal electroretinograms (mfERG) were examined for all patients,fundus fluorescein angiography (FFA) for 11 eyes,optical coherence tomography (OCT) and chromoptometry for 6 eyes.Results There were 6 eyes with red/green color blindness,2 eyes with color weakness.Normal fundus was found in 11 eyes,while derangement of macular pigment epithelial in 4 eyes.FFA results showed that there were 5 eyes with normal fundus,4 eyes with blocked fluorescent spots,2 eyes with oval macular atrophy.FERG results showed that in cone response,the amplitude was lower in 6 eyes (including mild decrease in 4 eyes,moderate decrease in 1 eye and severe decrease in 1 eye) ; both in cone and rod response,the amplitude were lower in 9 eyes.mfERG results showed that central part of the cone (less than 7 degree from the center) was damaged in 5 eyes,both central and peripheral part (outside of 7 degree) of the cone were damaged in 10 eyes.OCT results showed that pigment derangement in 3 eyes,fovea was normal in 8 eyes,thinned in 5 eyes (foveal thickness was 83-111 μm).Conclusions The fundus manifestations of LOCD patients are variable,from normal fundus to oval macular atrophy.FERG is abnormal,which mainly in cone response at early stage and both in cone and rod response at late stage.Central part and (or) peripheral part of the cone are abnormal by mfERG.%目的 观察迟发性视锥细胞营养不良(LOCD)患者的临床特征.方法 临床检查确诊的LOCD患者11例15

  1. Modifying muscular dystrophy through TGFβ

    OpenAIRE

    Ceco, Ermelinda; McNally, Elizabeth M.

    2013-01-01

    Muscular dystrophy arises from ongoing muscle degeneration and insufficient regeneration. This imbalance leads to loss of muscle with replacement by scar or fibrosis resulting in muscle weakness and, eventually, loss of muscle function. Human muscular dystrophy is characterized by a wide range of disease severity, even when the same genetic mutation is present. This variability implies that other factors, both genetic and environmental, modify the disease outcome. There has been an ongoing ef...

  2. [Duchenne muscular dystrophy pathophysiology].

    Science.gov (United States)

    Péréon, Y; Mercier, S; Magot, A

    2015-12-01

    Dystrophin is a large cytoskeletal protein located at the plasma membrane in both muscle and non-muscle tissues, which mediates interactions between the cytoskeleton, cell membrane, and extracellular matrix. Dystrophin is a key component of multiprotein complexes (dystrophin- associated glycoprotein complex, or DGC). It is also involved in many intracellular cascades affecting membrane proteins such as calcium channels, or various signalisation pathways. In Duchenne Muscular Dystrophy, both dystrophin and DGC proteins are missing. This induces excessive membrane fragility and permeability, dysregulation of calcium homeostasis, oxidative damage, which in turn favour muscle cell necrosis. The latter is initially followed by regeneration. With age, the regenerative capacity of the muscles appears to be exhausted and muscle fibres are gradually replaced by connective and adipose tissue. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  3. Adult foveomacular vitelliform dystrophy

    Directory of Open Access Journals (Sweden)

    Valdir Balarin

    2013-06-01

    Full Text Available Adult foveomacular vitelliform dystrophy is a rare pathology. Less than 1% of the reported cases display perifoveal capillary permeability. The three-year follow-up period of the case revealed a rare form, which had not yet been documented. The patient was a 40-year-old female with normal visual acuity, and a minor complaint of metamorphopsia on the left eye. Retinography showed a perifoveal yellowish subretinal area OS.Angiography showed perifoveal leakage OS. Follow up showed that, over 3 years, capillary incompetence disappeared and the yellow area underwent alterations, becoming atrophic OS. Angiography also showed hyperfluorescence (windows defect. Towards the end, it resembled the appearance of late stage of Best's Disease.

  4. Trypan blue selective staining using whole blood for internal limiting membrane peeling during macular hole corrective surgery.

    Science.gov (United States)

    Lai, Chi-Chun; Chuang, Lan-Hsin; Wang, Nan-Kai; Yeung, Ling; Chen, Yen-Po; Hwang, Yih-Shiou; Chen, Kuan-Jen; Wu, Wei-Chi

    2009-01-01

    To prevent trypan blue (TB) retention and its potential toxicity by selectively staining the internal limiting membrane (ILM) with the aid of whole blood. Twenty-four consecutive patients with macular holes who underwent TB-assisted ILM peeling were enrolled. In the surgeries, autologous whole blood was applied to cover the macular hole, and only the area selectively used for TB staining was exposed. Trypan blue solution (0.75 mg/mL, after being diluted with 5% glucose) was used to stain the exposed macular area in the fluid-filled vitreous cavity. The stained ILM was then completely removed. Twenty-four macular holes were studied. The ILMs were selectively stained by trypan blue and then removed completely. No visible dye remained on the retina after peeling. The macular holes were closed in 22 eyes (92%) after a single surgery. The mean best-corrected visual acuity improved from 20/140 to 20/62 after surgery. In addition, no fundus changes were observed during the follow-up period. Selective staining of ILM during TB-assisted membrane peeling could be achieved with whole blood as the adjuvant. Complete removal of stained membranes can prevent TB retention and may further reduce toxicity on retinal pigment epithelium and retina.

  5. Weighted ensemble based automatic detection of exudates in fundus photographs.

    Science.gov (United States)

    Prentasic, Pavle; Loncaric, Sven

    2014-01-01

    Diabetic retinopathy (DR) is a visual complication of diabetes, which has become one of the leading causes of preventable blindness in the world. Exudate detection is an important problem in automatic screening systems for detection of diabetic retinopathy using color fundus photographs. In this paper, we present a method for detection of exudates in color fundus photographs, which combines several preprocessing and candidate extraction algorithms to increase the exudate detection accuracy. The first stage of the method consists of an ensemble of several exudate candidate extraction algorithms. In the learning phase, simulated annealing is used to determine weights for combining the results of the ensemble candidate extraction algorithms. The second stage of the method uses a machine learning-based classification for detection of exudate regions. The experimental validation was performed using the DRiDB color fundus image set. The validation has demonstrated that the proposed method achieved higher accuracy in comparison to state-of-the art methods.

  6. Fundus Findings in Dengue Fever: A Case Report.

    Science.gov (United States)

    Şahan, Berna; Tatlıpınar, Sinan; Marangoz, Deniz; Çiftçi, Ferda

    2015-10-01

    Dengue fever is a flavivirus infection transmitted through infected mosquitoes, and is endemic in Southeast Asia, Central and South America, the Pacific, Africa and the Eastern Mediterranean region. A 41-year-old male patient had visual impairment after travelling to Thailand, which is one of the endemic areas. Cotton wool spots were observed on fundus examination. Fundus fluorescein angiography showed minimal vascular leakage from areas near the cotton wool spots and dot hemorrhages in the macula. Dengue fever should be considered in patients with visual complaints who traveled to endemic areas of dengue fever.

  7. Age-Related Macular Degeneration

    Science.gov (United States)

    ... version of this page please turn Javascript on. Age-related Macular Degeneration About AMD Click for more ... a leading cause of vision loss among people age 60 and older. It causes damage to the ...

  8. Paternal transmission of congenital myotonic dystrophy.

    OpenAIRE

    Bergoffen, J; Kant, J.; Sladky, J; McDonald-McGinn, D; Zackai, E H; Fischbeck, K H

    1994-01-01

    The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counsell...

  9. Advances in retinal imaging for diabetic retinopathy and diabetic macular edema.

    Science.gov (United States)

    Tan, Colin Siang Hui; Chew, Milton Cher Yong; Lim, Louis Wei Yi; Sadda, Srinivas R

    2016-01-01

    Diabetic retinopathy and diabetic macular edema (DME) are leading causes of blindness throughout the world, and cause significant visual morbidity. Ocular imaging has played a significant role in the management of diabetic eye disease, and the advent of advanced imaging modalities will be of great value as our understanding of diabetic eye diseases increase, and the management options become increasingly varied and complex. Color fundus photography has established roles in screening for diabetic eye disease, early detection of progression, and monitoring of treatment response. Fluorescein angiography (FA) detects areas of capillary nonperfusion, as well as leakage from both microaneurysms and neovascularization. Recent advances in retinal imaging modalities complement traditional fundus photography and provide invaluable new information for clinicians. Ultra-widefield imaging, which can be used to produce both color fundus photographs and FAs, now allows unprecedented views of the posterior pole. The pathologies that are detected in the periphery of the retina have the potential to change the grading of disease severity, and may be of prognostic significance to disease progression. Studies have shown that peripheral ischemia may be related to the presence and severity of DME. Optical coherence tomography (OCT) provides structural detail of the retina, and the quantitative and qualitative features are useful in the monitoring of diabetic eye disease. A relatively recent innovation, OCT angiography, produces images of the fine blood vessels at the macula and optic disc, without the need for contrast agents. This paper will review the roles of each of these imaging modalities for diabetic eye disease.

  10. Non-mydriatic, wide field, fundus video camera

    Science.gov (United States)

    Hoeher, Bernhard; Voigtmann, Peter; Michelson, Georg; Schmauss, Bernhard

    2014-02-01

    We describe a method we call "stripe field imaging" that is capable of capturing wide field color fundus videos and images of the human eye at pupil sizes of 2mm. This means that it can be used with a non-dilated pupil even with bright ambient light. We realized a mobile demonstrator to prove the method and we could acquire color fundus videos of subjects successfully. We designed the demonstrator as a low-cost device consisting of mass market components to show that there is no major additional technical outlay to realize the improvements we propose. The technical core idea of our method is breaking the rotational symmetry in the optical design that is given in many conventional fundus cameras. By this measure we could extend the possible field of view (FOV) at a pupil size of 2mm from a circular field with 20° in diameter to a square field with 68° by 18° in size. We acquired a fundus video while the subject was slightly touching and releasing the lid. The resulting video showed changes at vessels in the region of the papilla and a change of the paleness of the papilla.

  11. Determining degree of optic nerve edema from color fundus photography

    Science.gov (United States)

    Agne, Jason; Wang, Jui-Kai; Kardon, Randy H.; Garvin, Mona K.

    2015-03-01

    Swelling of the optic nerve head (ONH) is subjectively assessed by clinicians using the Frisén scale. It is believed that a direct measurement of the ONH volume would serve as a better representation of the swelling. However, a direct measurement requires optic nerve imaging with spectral domain optical coherence tomography (SD-OCT) and 3D segmentation of the resulting images, which is not always available during clinical evaluation. Furthermore, telemedical imaging of the eye at remote locations is more feasible with non-mydriatic fundus cameras which are less costly than OCT imagers. Therefore, there is a critical need to develop a more quantitative analysis of optic nerve swelling on a continuous scale, similar to SD-OCT. Here, we select features from more commonly available 2D fundus images and use them to predict ONH volume. Twenty-six features were extracted from each of 48 color fundus images. The features include attributes of the blood vessels, optic nerve head, and peripapillary retina areas. These features were used in a regression analysis to predict ONH volume, as computed by a segmentation of the SD-OCT image. The results of the regression analysis yielded a mean square error of 2.43 mm3 and a correlation coefficient between computed and predicted volumes of R = 0:771, which suggests that ONH volume may be predicted from fundus features alone.

  12. Genetics of corneal endothelial dystrophies

    Indian Academy of Sciences (India)

    Chitra Kannabiran

    2009-12-01

    The corneal endothelium maintains the level of hydration in the cornea. Dysfunction of the endothelium results in excess accumulation of water in the corneal stroma, leading to swelling of the stroma and loss of transparency. There are four different corneal endothelial dystrophies that are hereditary, progressive, non-inflammatory disorders involving dysfunction of the corneal endothelium. Each of the endothelial dystrophies is genetically heterogeneous with different modes of transmission and/or different genes involved in each subtype. Genes responsible for disease have been identified for only a subset of corneal endothelial dystrophies. Knowledge of genes involved and their function in the corneal endothelium can aid understanding the pathogenesis of the disorder as well as reveal pathways that are important for normal functioning of the endothelium.

  13. Current status in diabetic macular edema treatments

    National Research Council Canada - National Science Library

    Pedro Romero-Aroca

    2013-01-01

    ... status.The photocoagulation laser is currently restricted to focal macular edema in some countries,but due the high cost of intravitreal drugs,the use of laser treatment for focal and diffuse diabetic macular edema(DME...

  14. Facts about Age-Related Macular Degeneration

    Science.gov (United States)

    ... Degeneration (AMD) > Facts About Age-Related Macular Degeneration Facts About Age-Related Macular Degeneration This information was ... an Eye Care Professional Last Reviewed: September 2015 Fact Sheet Blurb The National Eye Institute (NEI) is ...

  15. Referral system for hard exudates in eye fundus.

    Science.gov (United States)

    Naqvi, Syed Ali Gohar; Zafar, Muhammad Faisal; Haq, Ihsan ul

    2015-09-01

    Hard exudates are one of the most common anomalies/artifacts found in the eye fundus of patients suffering from diabetic retinopathy. These exudates are the major cause of loss of sight or blindness in people having diabetic retinopathy. Diagnosis of hard exudates requires considerable time and effort of an ophthalmologist. The ophthalmologists have become overloaded, so that there is a need for an automated diagnostic/referral system. In this paper a referral system for the hard exudates in the eye-fundus images has been presented. The proposed referral system works by combining different techniques like Scale Invariant Feature Transform (SIFT), K-means Clustering, Visual Dictionaries and Support Vector Machine (SVM). The system was also tested with Back Propagation Neural Network as a classifier. To test the performance of the system four fundus image databases were used. One publicly available image database was used to compare the performance of the system to the existing systems. To test the general performance of the system when the images are taken under different conditions and come from different sources, three other fundus image databases were mixed. The evaluation of the system was also performed on different sizes of the visual dictionaries. When using only one fundus image database the area under the curve (AUC) of maximum 0.9702 (97.02%) was achieved with accuracy of 95.02%. In case of mixed image databases an AUC of 0.9349 (93.49%) was recorded having accuracy of 87.23%. The results were compared to the existing systems and were found better/comparable. Copyright © 2015 Elsevier Ltd. All rights reserved.

  16. FUNDUS CHANGES IN PREGNANCY INDUCED HYPERTENSION: A CLINICAL STUDY

    Directory of Open Access Journals (Sweden)

    Rama Bharathi

    2015-01-01

    Full Text Available PURPOSE: To estimate the prevalence of fundus changes in Pregnancy Induced Hypertension (PIH and to find the correlation of the findings with the levels of hypertension and with the severity of the disease. METHODS: This was a hospital based cross section al study conducted over a period of one year from July 2012 to June 2013. 150 patients with diagnosed PIH and admission into wards at King George Hospital, Visakhapatnam, with 36 weeks period of gestation and above, were included in the study. Those with p re - existing hypertension, coexisting diabetes mellitus, severe anaemia, renal disease and ocular diseases like cataract or corneal opacities were excluded from the study. After taking consent and ocular history, anterior segment was evaluated. Pupils were dilated with 0.5% tropicamide eye drops and fundus examination was done with direct ophthalmoscope. Information like age, para, BP etc., was noted down from case sheets. RESULTS: Total number of patients studied was 150.Mean age was 23.06+ 3.03years. 105 ( 70% were primigravidae and 45(30% were multigravidae. Fundus findings were seen in 35 cases (23.33%. 26 (17.33% had Grade I changes, 1 (0.66% had grade II changes, 6 (3.9% had grade III changes 2 (1.3% had serous retinal detachment/grade - IV. The de gree of retinopathy was correlating with the severity of the disease and levels of hypertension. CONCLUSION: The prevalence of fundus changes in PIH is 23.33%. Most of the fundus changes in PIH are underdiagnosed. Timely ophthalmoscopy should be called for in all cases of PIH as it would affect the decision of induction of delivery, thereby preventing other complications.

  17. Ocular abnormality in myotonic dystrophy.

    Science.gov (United States)

    Ginsberg, J; Hamblet, J; Menefee, M

    1978-08-01

    A 61-year-old white woman with terminal myotonic dystrophy exhibited advanced peripheral and central retinopathy. Retinal lesions were characterized by hyperpigmentation, common, though nonspecific, in myotonic dystrophy. They resemble both heredo (tapetoretinal) and idiopathic involutional degenerations but rarely cause severe visual impairment. Neither the type nor degree of retinopathy appears to correlate with other ocular features or with the stage of the underlying disease. Our histologic observations confirm and extend those previously described. Electron microscopy suggests a primary disorder of mitochondria which may also affect smooth muscle and the myocardium.

  18. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2015-07-01

    Full Text Available We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

  19. The pathogenesis of the fundus peau d'orange and salmon spots.

    Science.gov (United States)

    Giuffrè, G

    1987-01-01

    The fundus of the eye of a patient with pseudoxanthoma elasticum showed angioid streaks, fundus peau d'orange and salmon spots, these latter unusually located in the macula. The fluorescein angiography revealed, in the arterial phase, a reticular hyperfluorescence in the areas of fundus peau d'orange and salmon spots. In the venous phase the fluorescence of the fundus peau d'orange was even, while the salmon spots showed staining and hyperfluorescent borders. These findings support the hypothesis that the fundus peau d'orange is due to degeneration of Bruch's membrane and the salmon spots are deiscences of this membrane.

  20. Using multifocal electroretinography hard exudates affect macular function in eyes with diabetic retinopathy.

    Science.gov (United States)

    Holm, Kristina; Ponjavic, Vesna; Lövestam-Adrian, Monica

    2010-09-01

    To evaluate the influence of hard exudates on macular function in patients with diabetic retinopathy. Thirty seven eyes from 27 diabetic patients, aged 57 +/- 14 years, diabetes duration 12.5 +/- 9 years, not previously treated with photocoagulation, underwent fundus photography, multifocal electroretinography (mfERG) and optical coherence tomography (OCT). Hard exudates were graded from fundus photography with superimposed OCT and a superimposed hexagonal pattern (mfERG) by one retinal specialist, unaware of mfERG and OCT results. We defined three groups; A = eyes with exudates in the analyzed zone, B = eyes with no exudates in the analyzed zone but elsewhere, and C = eyes with no exudates. The mfERG responses and OCT values from five defined areas in the macula were compared. MfERG showed that the implicit time was significantly prolonged in group A compared to group C in the central, middle and outer areas and in the nasal and temporal area (p = 0.045, 0.019, 0.017 and 0.035 and 0.016 respectively), in group B compared to group C in the central area (p = 0.016), and in group A compared to group B in the outer area (p = 0.035). Amplitude differed between group A and C in the middle area and outer area (14.2 +/- 5.2 nV/deg(2) vs 21.1 +/- 8.7 nV/deg(2), p = 0.037 and 14.1 +/- 3.9 nV/deg(2) vs 17.7 +/- 7.1 nV/deg(2) , p = 0.02 respectively), and between group B and C in the temporal area 14.5 +/- 2.2 nV/deg(2) vs 20.0 +/- 8.7 nV/deg(2), p = 0.017). Macular thickness assessed with OCT was similar between the groups. In eyes with diabetic retinopathy, hard exudates prolong the implicit time assessed with mfERG, compared to eyes without hard exudates, and independently of macular thickness. These results indicate that the hard exudates in the macular region, even at a distance from the fovea centre, have a deleterious effect on macular function.

  1. [Age related macular degeneration].

    Science.gov (United States)

    Sayen, Alexandra; Hubert, Isabelle; Berrod, Jean-Paul

    2011-02-01

    Age-related macular degeneration (ARMD) is a multifactorial disease caused by a combination of genetic and environmental factors. It is the first cause of blindness in patients over 50 in the western world. The disease has been traditionally classified into early and late stages with dry (atrophic) and wet (neovascular) forms: neovascular form is characterized by new blood vessels development under the macula (choroidal neovascularisation) which lead to a rapid decline of vision associated with metamorphopsia and requiring an urgent ophtalmological examination. Optical coherence tomography is now one of the most important part of the examination for diagnosis and treatment. Patient with age related maculopathy should consider taking a dietary supplement such that used in AREDS. The treatment of the wet ARMD has largely beneficied since year 2006 of anti-VEGF (vascular endothelial growth factor) molecules such as ranibizumab or bevacizumab given as repeated intravitreal injections. A systematic follow up each 4 to 8 week in required for several years. There is no effective treatment at the moment for dry AMD. For patients with binocular visual acuity under 60/200 rehabilitation includes low vision specialist, vision aids and psychological support.

  2. Nonarteritic anterior ischemic optic neuropathy following pars plana vitrectomy for macular hole treatment: case report

    Directory of Open Access Journals (Sweden)

    Leonardo Provetti Cunha

    Full Text Available ABSTRACT Herein, we report a case of nonarteritic anterior ischemic optic neuropathy (NAION following uneventful pars plana vitrectomy for macular hole treatment. A 56-year-old previously healthy woman presented with a full-thickness macular hole in right eye (OD and small cup-to-disc ratios in both eyes. Five days after surgery, she noticed sudden painless loss of vision in OD and was found to have an afferent pupillary defect and intraocular pressure of 29 mmHg. Fundus examination showed right optic disc edema and the resolution of a macular hole with an inferior altitudinal visual field defect. Erythrocyte sedimentation rate, C-reactive protein levels, and general physical examination findings were normal. She was treated with hypotensive eyedrops and oral prednisone, resulting in mild visual improvement and a pale optic disc. A combination of face-down position and increased intraocular pressure due to a small optic disc cup were considered as potential mechanisms underlying NAION in the present case. Vitreoretinal surgeons should be aware of NAION as a potentially serious complication and be able to recognize associated risk factors and clinical findings.

  3. Wasting mechanisms in muscular dystrophy.

    Science.gov (United States)

    Shin, Jonghyun; Tajrishi, Marjan M; Ogura, Yuji; Kumar, Ashok

    2013-10-01

    Muscular dystrophy is a group of more than 30 different clinical genetic disorders that are characterized by progressive skeletal muscle wasting and degeneration. Primary deficiency of specific extracellular matrix, sarcoplasmic, cytoskeletal, or nuclear membrane protein results in several secondary changes such as sarcolemmal instability, calcium influx, fiber necrosis, oxidative stress, inflammatory response, breakdown of extracellular matrix, and eventually fibrosis which leads to loss of ambulance and cardiac and respiratory failure. A number of molecular processes have now been identified which hasten disease progression in human patients and animal models of muscular dystrophy. Accumulating evidence further suggests that aberrant activation of several signaling pathways aggravate pathological cascades in dystrophic muscle. Although replacement of defective gene with wild-type is paramount to cure, management of secondary pathological changes has enormous potential to improving the quality of life and extending lifespan of muscular dystrophy patients. In this article, we have reviewed major cellular and molecular mechanisms leading to muscle wasting in muscular dystrophy. This article is part of a Directed Issue entitled: Molecular basis of muscle wasting.

  4. Prednisone Therapy for Duchenne Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-02-01

    Full Text Available The effects of prednisone on muscle function and the extent of steroid-related adverse effects were studied in 17 ambulant children with Duchenne muscular dystrophy (DMD at University Hospital, Groningen; Rehabilitation Centre, Utrecht; and Leiden University Medical Centre, the Netherlands.

  5. Glucocorticoids for Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-07-01

    Full Text Available Investigators at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, and other centers in the UK, conducted a prospective longitudinal study across 17 neuromuscular centers in the UK of 360 boys aged 3-15 years with Duchenne muscular dystrophy who were treated with daily or intermittent (10 days on/10 days off prednisolone for a mean duration of 4 years.

  6. Inherited myopathies and muscular dystrophies

    NARCIS (Netherlands)

    Cardamone, Michael; Darras, Basil T.; Ryan, Monique M.

    The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and

  7. AMPUTATION AND REFLEX SYMPATHETIC DYSTROPHY

    NARCIS (Netherlands)

    GEERTZEN, JHB; EISMA, WH

    Reflex sympathetic dystrophy is a chronic pain syndrome characterized by chronic burning pain, restricted range of motion, oedema and vasolability. Patients are difficult to treat and the prognosis is very often poor. This report emphasizes that an amputation in case of a reflex sympathetic

  8. Porcine models of muscular dystrophy

    Science.gov (United States)

    Duchenne muscular dystrophy is a progressive, fatal, X-linked disease caused by a failure to accumulate the cytoskeletal protein, dystrophin. This disease is modeled by a variety of animal models including several fish models, mice, rats, and dogs. While these models have contributed substantially t...

  9. Retro-Mode Scanning Laser Ophthalmoscopy Planning for Navigated Macular Laser Photocoagulation in Macular Edema

    Directory of Open Access Journals (Sweden)

    Ernest V. Boiko

    2016-01-01

    Full Text Available Purpose. To compare treatment areas and navigated macular laser photocoagulation (MLP plans suggested by retro-mode scanning laser ophthalmoscopy (RM-SLO image versus optical coherence tomography (OCT central retinal thickness map and treatment planning among retina specialists. Methods. Thirty-nine eyes with diabetic or branch retinal vein occlusion-related ME undergoing navigated MLP with navigated photocoagulator had OCT and RM-SLO taken. OCT map and RM-SLO image were imported to the photocoagulator and aligned onto the retina. Two retina specialists placed laser spot marks separately based on OCT and RM-SLO images in a random fashion. The spots placed by each physician were compared between OCT and RM-SLO and among physicians. The areas of retinal edema on OCT and RM-SLO of the same eye were also compared. Results. The average number of laser spots using RM-SLO and OCT template was 189.6±77.4 and 136.6±46.8, respectively, P=0.003. The average area of edema on RM-SLO image was larger than that on OCT map (14.5±3.9 mm2 versus 10.3±2.8 mm2, P=0.005 because of a larger scanning area. There was narrow variability in treatment planning among retina specialists for both RM-SLO (P=0.13 and OCT (P=0.19. Conclusion. The RM-SLO image superimposed onto the fundus of the same eye can be used to guide MLP with narrow variability in treatment planning among retina specialists. The treatment areas suggested by RM-SLO-guided MLP plans for ME were shown to be larger than those suggested by OCT-guided plans.

  10. Retro-Mode Scanning Laser Ophthalmoscopy Planning for Navigated Macular Laser Photocoagulation in Macular Edema.

    Science.gov (United States)

    Boiko, Ernest V; Maltsev, Dmitrii S

    2016-01-01

    Purpose. To compare treatment areas and navigated macular laser photocoagulation (MLP) plans suggested by retro-mode scanning laser ophthalmoscopy (RM-SLO) image versus optical coherence tomography (OCT) central retinal thickness map and treatment planning among retina specialists. Methods. Thirty-nine eyes with diabetic or branch retinal vein occlusion-related ME undergoing navigated MLP with navigated photocoagulator had OCT and RM-SLO taken. OCT map and RM-SLO image were imported to the photocoagulator and aligned onto the retina. Two retina specialists placed laser spot marks separately based on OCT and RM-SLO images in a random fashion. The spots placed by each physician were compared between OCT and RM-SLO and among physicians. The areas of retinal edema on OCT and RM-SLO of the same eye were also compared. Results. The average number of laser spots using RM-SLO and OCT template was 189.6 ± 77.4 and 136.6 ± 46.8, respectively, P = 0.003. The average area of edema on RM-SLO image was larger than that on OCT map (14.5 ± 3.9 mm(2) versus 10.3 ± 2.8 mm(2), P = 0.005) because of a larger scanning area. There was narrow variability in treatment planning among retina specialists for both RM-SLO (P = 0.13) and OCT (P = 0.19). Conclusion. The RM-SLO image superimposed onto the fundus of the same eye can be used to guide MLP with narrow variability in treatment planning among retina specialists. The treatment areas suggested by RM-SLO-guided MLP plans for ME were shown to be larger than those suggested by OCT-guided plans.

  11. Simultaneous macula detection and optic disc boundary segmentation in retinal fundus images

    Science.gov (United States)

    Girard, Fantin; Kavalec, Conrad; Grenier, Sébastien; Ben Tahar, Houssem; Cheriet, Farida

    2016-03-01

    The optic disc (OD) and the macula are important structures in automatic diagnosis of most retinal diseases inducing vision defects such as glaucoma, diabetic or hypertensive retinopathy and age-related macular degeneration. We propose a new method to detect simultaneously the macula and the OD boundary. First, the color fundus images are processed to compute several maps highlighting the different anatomical structures such as vessels, the macula and the OD. Then, macula candidates and OD candidates are found simultaneously and independently using seed detectors identified on the corresponding maps. After selecting a set of macula/OD pairs, the top candidates are sent to the OD segmentation method. The segmentation method is based on local K-means applied to color coordinates in polar space followed by a polynomial fitting regularization step. Pair scores are updated, resulting in the final best macula/OD pair. The method was evaluated on two public image databases: ONHSD and MESSIDOR. The results show an overlapping area of 0.84 on ONHSD and 0.90 on MESSIDOR, which is better than recent state of the art methods. Our segmentation method is robust to contrast and illumination problems and outputs the exact boundary of the OD, not just a circular or elliptical model. The macula detection has an accuracy of 94%, which again outperforms other macula detection methods. This shows that combining the OD and macula detections improves the overall accuracy. The computation time for the whole process is 6.4 seconds, which is faster than other methods in the literature.

  12. A longitudinal comparison of spectral-domain optical coherence tomography and fundus autofluorescence in geographic atrophy.

    Science.gov (United States)

    Simader, Christian; Sayegh, Ramzi G; Montuoro, Alessio; Azhary, Malek; Koth, Anna Lucia; Baratsits, Magdalena; Sacu, Stefan; Prünte, Christian; Kreil, David P; Schmidt-Erfurth, Ursula

    2014-09-01

    To identify reliable criteria based on spectral-domain optical coherence tomography (SD OCT) to monitor disease progression in geographic atrophy attributable to age-related macular degeneration (AMD) compared with lesion size determination based on fundus autofluorescence (FAF). Prospective longitudinal observational study. setting: Institutional. study population: A total of 48 eyes in 24 patients with geographic atrophy. observation procedures: Eyes with geographic atrophy were included and examined at baseline and at months 3, 6, 9, and 12. At each study visit best-corrected visual acuity (BCVA), FAF, and SD OCT imaging were performed. FAF images were analyzed using the region overlay device. Planimetric measurements in SD OCT, including alterations or loss of outer retinal layers and the RPE, as well as choroidal signal enhancement, were performed with the OCT Toolkit. main outcome measures: Areas of interest in patients with geographic atrophy measured from baseline to month 12 by SD OCT compared with the area of atrophy measured by FAF. Geographic atrophy lesion size increased from 8.88 mm² to 11.22 mm² based on quantitative FAF evaluation. Linear regression analysis demonstrated that results similar to FAF planimetry for determining lesion progression can be obtained by measuring the areas of outer plexiform layer thinning (adjusted R(2) = 0.93), external limiting membrane loss (adjusted R(2) = 0.89), or choroidal signal enhancement (R(2) = 0.93) by SD OCT. SD OCT allows morphologic markers of disease progression to be identified in geographic atrophy and may improve understanding of the pathophysiology of atrophic AMD. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. Supervised pixel classification for segmenting geographic atrophy in fundus autofluorescene images

    Science.gov (United States)

    Hu, Zhihong; Medioni, Gerard G.; Hernandez, Matthias; Sadda, SriniVas R.

    2014-03-01

    Age-related macular degeneration (AMD) is the leading cause of blindness in people over the age of 65. Geographic atrophy (GA) is a manifestation of the advanced or late-stage of the AMD, which may result in severe vision loss and blindness. Techniques to rapidly and precisely detect and quantify GA lesions would appear to be of important value in advancing the understanding of the pathogenesis of GA and the management of GA progression. The purpose of this study is to develop an automated supervised pixel classification approach for segmenting GA including uni-focal and multi-focal patches in fundus autofluorescene (FAF) images. The image features include region wise intensity (mean and variance) measures, gray level co-occurrence matrix measures (angular second moment, entropy, and inverse difference moment), and Gaussian filter banks. A k-nearest-neighbor (k-NN) pixel classifier is applied to obtain a GA probability map, representing the likelihood that the image pixel belongs to GA. A voting binary iterative hole filling filter is then applied to fill in the small holes. Sixteen randomly chosen FAF images were obtained from sixteen subjects with GA. The algorithm-defined GA regions are compared with manual delineation performed by certified graders. Two-fold cross-validation is applied for the evaluation of the classification performance. The mean Dice similarity coefficients (DSC) between the algorithm- and manually-defined GA regions are 0.84 +/- 0.06 for one test and 0.83 +/- 0.07 for the other test and the area correlations between them are 0.99 (p < 0.05) and 0.94 (p < 0.05) respectively.

  14. Genetics Home Reference: lattice corneal dystrophy type I

    Science.gov (United States)

    ... corneal dystrophy type I lattice corneal dystrophy type I Enable Javascript to view the expand/collapse boxes. ... All Close All Description Lattice corneal dystrophy type I is an eye disorder that affects the clear, ...

  15. Microaneurysm turnover in the macula is a biomarker for development of clinically significant macular edema in type 2 diabetes

    Directory of Open Access Journals (Sweden)

    Ribeiro L

    2013-01-01

    Full Text Available Luisa Ribeiro, Sandrina Nunes, José Cunha-VazAssociation for Innovation and Biomedical Research on Light and Image and Faculty of Medicine, University of Coimbra, Coimbra, PortugalAbstract: The evolution and progression of diabetic retinopathy varies between individuals and does not necessarily progress to vision loss in every patient. However, it is difficult in clinical practice to predict the clinical course and to identify which eyes will develop vision-threatening complications, ie, clinically significant macular edema or proliferative retinopathy. There is a clear need to identify biomarkers of disease progression. Microaneurysm turnover computed automatically in digital color fundus photography images using the RetmarkerDR is a good biomarker for worsening of retinopathy and development of clinically significant macular edema. For long-term prediction (ten years, a microaneurysm formation rate higher than two per year predicts development of clinically significant macular edema. For short-term prediction (2 years, a microaneurysm turnover rate lower than nine indicates that development of clinically significant macular edema is highly unlikely.Keywords: biomarker, diabetes type 2, diabetic retinopathy, microaneurysms, retina

  16. Automatic Microaneurysm Detection and Characterization Through Digital Color Fundus Images

    Energy Technology Data Exchange (ETDEWEB)

    Martins, Charles; Veras, Rodrigo; Ramalho, Geraldo; Medeiros, Fatima; Ushizima, Daniela

    2008-08-29

    Ocular fundus images can provide information about retinal, ophthalmic, and even systemic diseases such as diabetes. Microaneurysms (MAs) are the earliest sign of Diabetic Retinopathy, a frequently observed complication in both type 1 and type 2 diabetes. Robust detection of MAs in digital color fundus images is critical in the development of automated screening systems for this kind of disease. Automatic grading of these images is being considered by health boards so that the human grading task is reduced. In this paper we describe segmentation and the feature extraction methods for candidate MAs detection.We show that the candidate MAs detected with the methodology have been successfully classified by a MLP neural network (correct classification of 84percent).

  17. Evaluation of retinal illumination in coaxial fundus camera

    Science.gov (United States)

    de Oliveira, André O.; de Matos, Luciana; Castro Neto, Jarbas C.

    2016-09-01

    Retinal images are obtained by simultaneously illuminating and imaging the retina, which is achieved using a fundus camera. This device meets low light illumination of the fundus with high resolution and reflection free images. Although the current equipment presents a sophisticated solution, it is complex to align due to the high number of off-axis components. In this work, we substitute the complex illumination system by a ring of LEDs mounted coaxially to the imaging optical system, positioning it in the place of the holed mirror of the traditional optical design. We evaluated the impact of this substitution regarding to image quality (measured through the modulation transfer function) and illumination uniformity produced by this system on the retina. The results showed there is no change in image quality and no problem was detected concerning uniformity compared to the traditional equipment. Consequently, we avoided off-axis components, easing the alignment of the equipment without reducing both image quality and illumination uniformity.

  18. Intravitreal injection with Ranibizumab combined with laser therapy for macular edema caused by branch retinal vein occlusion

    Directory of Open Access Journals (Sweden)

    Cong Zhang

    2014-08-01

    Full Text Available AIM:To investigate the efficacy of intravitreal ranibizumab combined with laser therapy in the treatment of macular edema caused by branch retinal vein occlusion(BRVO. METHODS:There were 78 patients(78 eyeswho were diagnosed with macular edema caused by BRVO using fundus fluorescence angiography(FFAand optical coherence tomography(OCT. Group A: randomly selected 26 cases(26 eyeswere given grid laser photocoagulation(GLP. Group B: randomly selected 26 cases(26 eyeswere given GLP first, and then received intravitreal ranibizumab 1wk later. Group C: randomly selected 26 cases(26 eyesundergone intravitreal ranibizumab first, and then given GLP 1wk later. There was no significant difference in macular edema. We analyzed the changes in the best corrected visual activity(BCVA, central macular thickness(CMTbefore and 1wk, 1,6mo after treatment. RESULTS: Compared with before treatment, 1wk after treatment: mean value changes of BCVA and CMT were no significant difference in group A(P>0.05; mean value changes of BCVA was improved and mean value of CMT was decreased in groups B and C, the difference was statistically significant(PPPPP>0.05between groups A and B after 6mo treatment; mean BCVA improved and CMT average value was decreased in group C, the difference was statistically significant(PPCONCLUSION: Intravitreal injection ranibizumab combined laser therapy can effectively reduce BRVO induced macular edema, enhance vision acuity. Compared with GLP, combination therapy has more rapid onset of treatment, and reduce macular edema better; Intravitreal ranibizumab should be given in front of the GLP, and the treatment effect is more precise, more stability.

  19. Interactive retinal blood flow analysis of the macular region.

    Science.gov (United States)

    Tian, Jing; Somfai, Gábor Márk; Campagnoli, Thalmon R; Smiddy, William E; Debuc, Delia Cabrera

    2016-03-01

    The study of retinal hemodynamics plays an important role to understand the onset and progression of diabetic retinopathy. In this work, we developed an interactive retinal analysis tool to quantitatively measure the blood flow velocity (BFV) and blood flow rate (BFR) in the macular region using the Retinal Function Imager (RFI). By employing a high definition stroboscopic fundus camera, the RFI device is able to assess retinal blood flow characteristics in vivo. However, the measurements of BFV using a user-guided vessel segmentation tool may induce significant inter-observer differences and BFR is not provided in the built-in software. In this work, we have developed an interactive tool to assess the retinal BFV and BFR in the macular region. Optical coherence tomography data was registered with the RFI image to locate the fovea accurately. The boundaries of the vessels were delineated on a motion contrast enhanced image and BFV was computed by maximizing the cross-correlation of pixel intensities in a ratio video. Furthermore, we were able to calculate the BFR in absolute values (μl/s). Experiments were conducted on 122 vessels from 5 healthy and 5 mild non-proliferative diabetic retinopathy (NPDR) subjects. The Pearson's correlation of the vessel diameter measurements between our method and manual labeling on 40 vessels was 0.984. The intraclass correlation (ICC) of BFV between our proposed method and built-in software was 0.924 and 0.830 for vessels from healthy and NPDR subjects, respectively. The coefficient of variation between repeated sessions was reduced significantly from 22.5% to 15.9% in our proposed method (p<0.001). Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Static and flicker perimetry in age-related macular degeneration.

    Science.gov (United States)

    Luu, Chi D; Dimitrov, Peter N; Wu, Zhichao; Ayton, Lauren N; Makeyeva, Galina; Aung, Khin-Zaw; Varsamidis, Mary; Robman, Luba; Vingrys, Algis J; Guymer, Robyn H

    2013-05-01

    The relationship between clinical severity of age-related macular degeneration (AMD) and macular function has not been well established. In this study, we investigated the correlation between clinical severity and functional deficits as detected by static and flicker perimetry. This cross-sectional study consisted of 279 AMD subjects and 24 control participants. AMD subjects were allocated into 1 of 10 AMD severity groups depending on the status of the designated study eye and the fellow eye, as assessed by color fundus photographs. Visual acuity, and static and flicker perimetry were tested on one eye during the same session. The geometric means, SDs, and percentage of abnormal eyes of static and flicker sensitivity of each AMD severity group were determined and compared. The pattern of change in sensitivity and percentage of abnormal eyes for static perimetry across all AMD severity groups were similar to flicker perimetry. Eyes with drusen > 125 μm (P[static] = 0.018, P[flicker] = 0.024), drusenoid epithelial detachment (P[static and flicker] static and flicker] static and flicker sensitivities compared to normal eyes. Static (β-coefficient -1.59, 95% confidence interval [CI] -4.78-1.60) and flicker (β-coefficient -1.29, 95% CI -4.66-2.08) sensitivities declined at a similar rate in eyes that showed clinical signs of progression. Static and flicker perimetry were affected similarly across the spectrum of AMD severity, and methods appeared to be valid techniques for assessing retinal sensitivity in AMD once drusen > 125 μm are present, but before the development of late AMD.

  1. Fundus artery occlusion caused by cosmetic facial injections

    Institute of Scientific and Technical Information of China (English)

    Chen Yanyun; Wang Wenying; Li Jipeng; Yu Yajie; Li Lin; Lu Ning

    2014-01-01

    Background With the increasing popularity of cosmetic facial filler injections in recent years,more and more associated complications have been reported.However,the causative surgical procedures and preventative measures have not been studied well up to now.The aim of this stady was to investigate the clinical characteristics and visual prognosis of fundus artery occlusion resulting from cosmetic facial filler injections.Methods Thirteen consecutive patients with fundus artery occlusion caused by facial filler injections were included.Main outcome measures were filler materials,injection sites,best-corrected visual acuity (BCVA),fundus fluorescein angiography,and associated ocular and systemic manifestations.Results Eleven patients had ophthalmic artery occlusion (OAO) and one patient each had central retinal artery occlusion (CRAO) and anterior ischemic optic neuropathy (AION).Injected materials included autologous fat (seven cases),hyaluronic acid (five cases),and bone collagen (one case).Injection sites were the frontal area (five cases),periocular area (two cases),temple area (two cases),and nose area and nasal area (4 cases).Injected autologous fat was associated with worse final BCVA than hyaluronic acid.The BCVA of seven patients with autologous fat injection in frontal area and temple area was no light perception.Most of the patients with OAO had ocular pain,headache,ptosis,ophthalmoplegia,and no improvement in final BCVA.Conclusions Cosmetic facial injections can cause fundus artery occlusion.Autologous fat injection tends to be associated with painful blindness,ptosis,ophthalmoplegia,and poor visual outcomes.The prognosis is much worse with autologous fat injection than hyaluronic acid injection.

  2. [Therapy of fundus oculi vascular pathology by solcoseryl].

    Science.gov (United States)

    Eliseeva, E G; Vorob'eva, O K; Astaf'eva, N V

    1999-01-01

    Long (for more than 17 years) therapy of 2331 patients (3122 eyes) with vascular conditions of the fundus oculi by a retinotropic drug solcoseryl showed its high efficacy as a monotherapy and in complex with other traditional and symptomatic treatments. Solcoseryl improved the visual function and hemodynamics of retinal vessels, promoted a more stable and longer stabilization of the treatment results, and accelerated the rehabilitation of patients.

  3. Feasibility and quality of nonmydriatic fundus photography in children

    Science.gov (United States)

    Toffoli, Daniela; Bruce, Beau B.; Lamirel, Cédric; Henderson, Amanda D.; Newman, Nancy J.; Biousse, Valérie

    2011-01-01

    Purpose Ocular funduscopic examination is difficult in young children and is rarely attempted by nonophthalmologists. Our objective was to determine the feasibility of reliably obtaining high-quality nonmydriatic fundus photographs in children. Methods Nonmydriatic fundus photographs were obtained in both eyes of children seen in a pediatric ophthalmology clinic. Ease of fundus photography was recorded on a 10-point Likert scale (10 = very easy). Quality was graded from 1 to 5 (1, inadequate for any diagnostic purpose; 2, unable to exclude all emergent findings; 3, only able to exclude emergent findings; 4, not ideal, but still able to exclude subtle findings; and 5, ideal quality). The primary outcome measure was image quality by age. Results A total of 878 photographs of 212 children (median age, 6 years; range,1-18 years) were included. Photographs of at least one eye were obtained in 190 children (89.6%) and in both eyes in 181 (85.3%). Median rating for ease of photography was 7. Photographs of some clinical value (grade ≥2) were obtained in 33% of children 3 years. High-quality photographs (grade 4 or 5) were obtained in both eyes in 7% of children <3 years, 57% of children ≥3 to <7 years, 85% of children ≥7 to <9 years, and 65% of children ≥9 years. The youngest patient with high-quality photographs in both eyes was 22 months. Conclusions Nonmydriatic fundus photographs of adequate quality can be obtained in children over age 3 and in some children as young as 22 months. PMID:22153402

  4. High-Procession Eye Tracking Using Fundus Images

    Science.gov (United States)

    Mulligan, Jeffrey B.

    1996-01-01

    Fundus images provide high optical gain for eye movement tracking, i.e. large image displacements occur as a result of small eye rotations. Subpixel registration techniques can provide resolution better than 1 arc minute using images acquired with a CCD camera. Ocular torsion may also be estimated, with a precision of approximately 0.1 degree. This talk will discuss the software algorithms used to attain this performance.

  5. In vivo diffuse correlation spectroscopy investigation of the ocular fundus

    Science.gov (United States)

    Cattini, Stefano; Staurenghi, Giovanni; Gatti, Antonietta; Rovati, Luigi

    2013-05-01

    Diffuse correlation spectroscopy (DCS) measurements in vivo recorded from rabbits' ocular fundus are presented. Despite the complexity of these ocular tissues, we provide a clear and simple demonstration of the DCS abilities to analyze variations in physiological quantities of clinical interest. Indeed, the reported experimental activities demonstrate that DCS can reveal both choroidal-flow and temperature variations and detect nano- and micro-aggregates in ocular fundus circulation. Such abilities can be of great interest both in fundamental research and practical clinical applications. The proposed measuring system can be useful in: (a) monitoring choroidal blood flow variations, (b) determining the end-point for photo-dynamic therapy and transpupillary thermo therapy and, (c) managing the dye injection and determining an end-point for dye-enhanced photothrombosis. Moreover, it could allow both diagnoses when the presence of nano- and micro-aggregates is related to specific diseases and verifying the effects of nanoparticle injection in nanomedicine. Even though the reported results demonstrate the applicability of DCS to investigate ocular fundus, a detailed and accurate investigation of the limits of detection is beyond the scope of this article.

  6. Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

    Science.gov (United States)

    2017-07-11

    Muscular Dystrophy, Duchenne; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Disease; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn

  7. Effect of Resected Gastric Fundus Fat on Ghrelin Tissue Levels: A Prospective Study.

    Science.gov (United States)

    Durmuş, Ali; Durmuş, Ilgim; Abahuni, Melis; Karatepe, Oguzhan

    2017-01-01

    Introduction: Obesity is currently an important health problem that is rapidly increasing worldwide. In recent years, the number of obesity-related surgeries has increased. The most common type of obesity-related surgery is laparoscopic sleeve gastrectomy (LSG). The aim of this study was to compare the genetic expression of the hormone ghrelin in different parts of the stomach. Materials and Methods: Nineteen obese patients who underwent LSG were examined in this study. Fat tissue from two different parts of the stomach, the fundus and the upper part of the fundus, were analysed by enzyme-linked immunosorbent assay (ELISA). The ribonucleic acid (RNA) isolation, complementary DNA (cDNA) and real-time quantitative polymerase chain reaction (RQ-PCR) techniques were applied. Additionally, a human ghrelin ELISA kit was used to measure ghrelin in obese patients. The ghrelin levels of fat tissue from the fundus and upper part of the fundus were statistically compared. Results: In all 19 patients, the average ghrelin level in the fundus was greater than 30. The average ghrelin level of the fat pad, which is located in the upper part of the fundus, was greater than 30 for 4 patients; the average level was approximately 5 in the remaining patients. A statistically significant difference in the ghrelin level was found between the fundus and the fundus fat tissue. Collection of fundus fat tissue is not routinely performed during LSG. However, ghrelin hormone elevation in this tissue may require collection of fundus tissue during surgery. Celsius.

  8. Age Related Macular Degeneration and Total Hip Replacement Due to Osteoarthritis or Fracture: Melbourne Collaborative Cohort Study.

    Directory of Open Access Journals (Sweden)

    Elaine W Chong

    Full Text Available Osteoarthritis is the leading cause of total hip replacement, accounting for more than 80% of all total hip replacements. Emerging evidence suggests that osteoarthritis has a chronic inflammatory component to its pathogenesis similar to age-related macular degeneration. We evaluated the association between age-related macular degeneration and total hip replacement as proxy for severe osteoarthritis or fractured neck of femur in the Melbourne Collaborative Cohort Study. 20,744 participants had complete data on both age-related macular degeneration assessed from colour fundus photographs taken during 2003-2007 and total hip replacement. Total hip replacements due to hip osteoarthritis and fractured neck of femur during 2001-2011 were identified by linking the cohort records to the Australian Orthopedic Association National Joint Replacement Registry. Logistic regression was used to examine the association between age-related macular degeneration and risk of total hip replacement due to osteoarthritis and fracture separately, adjusted for confounders. There were 791 cases of total hip replacement for osteoarthritis and 102 cases of total hip replacement due to fractured neck of femur. After adjustment for age, sex, body mass index, smoking, and grouped country of birth, intermediate age-related macular degeneration was directly associated with total hip replacement for osteoarthritis (odds ratio 1.22, 95% CI 1.00-1.49. Late age-related macular degeneration was directly associated with total hip replacement due to fractured neck of femur (odds ratio 5.21, 95% CI2.25-12.02. The association between intermediate age-related macular degeneration and an increased 10-year incidence of total hip replacement due to osteoarthritis suggests the possibility of similar inflammatory processes underlying both chronic diseases. The association of late age-related macular degeneration with an increased 10-year incidence of total hip replacement due to fractured

  9. Age Related Macular Degeneration and Total Hip Replacement Due to Osteoarthritis or Fracture: Melbourne Collaborative Cohort Study.

    Science.gov (United States)

    Chong, Elaine W; Wang, Yuanyuan; Robman, Liubov D; Aung, Khin Zaw; Makeyeva, Galina A; Giles, Graham G; Graves, Stephen; Cicuttini, Flavia M; Guymer, Robyn H

    2015-01-01

    Osteoarthritis is the leading cause of total hip replacement, accounting for more than 80% of all total hip replacements. Emerging evidence suggests that osteoarthritis has a chronic inflammatory component to its pathogenesis similar to age-related macular degeneration. We evaluated the association between age-related macular degeneration and total hip replacement as proxy for severe osteoarthritis or fractured neck of femur in the Melbourne Collaborative Cohort Study. 20,744 participants had complete data on both age-related macular degeneration assessed from colour fundus photographs taken during 2003-2007 and total hip replacement. Total hip replacements due to hip osteoarthritis and fractured neck of femur during 2001-2011 were identified by linking the cohort records to the Australian Orthopedic Association National Joint Replacement Registry. Logistic regression was used to examine the association between age-related macular degeneration and risk of total hip replacement due to osteoarthritis and fracture separately, adjusted for confounders. There were 791 cases of total hip replacement for osteoarthritis and 102 cases of total hip replacement due to fractured neck of femur. After adjustment for age, sex, body mass index, smoking, and grouped country of birth, intermediate age-related macular degeneration was directly associated with total hip replacement for osteoarthritis (odds ratio 1.22, 95% CI 1.00-1.49). Late age-related macular degeneration was directly associated with total hip replacement due to fractured neck of femur (odds ratio 5.21, 95% CI2.25-12.02). The association between intermediate age-related macular degeneration and an increased 10-year incidence of total hip replacement due to osteoarthritis suggests the possibility of similar inflammatory processes underlying both chronic diseases. The association of late age-related macular degeneration with an increased 10-year incidence of total hip replacement due to fractured neck of femur may be

  10. Fungal keratitis in Lattice dystrophy

    Directory of Open Access Journals (Sweden)

    Chatterjee Samrat

    2010-01-01

    Full Text Available We report a case of fungal keratitis occurring in a patient with lattice dystrophy. A 57-year-old farmer presented with a corneal ulcer following probable entry of paddy husk in the right eye, of one month duration. Corneal scraping revealed pigmented fungal filaments while culture grew Alternaria alternata. Treatment with 5% natamycin eye drops and 1% atropine healed the infection in four weeks. We would like to draw attention to the fact that the cornea in lattice dystrophy is prone to frequent erosions and is a compromised epithelial barrier to invasion by microorganisms. Patients must be made aware of this fact and should seek attention at the earliest following any trivial trauma. Management of minor corneal abrasions in them should be directed at healing the epithelium with adequate lubricants and preventing infection with topical antibiotic prophylaxis.

  11. Evaluation of curative effect of macular edema in retinal vein occlusion

    Directory of Open Access Journals (Sweden)

    Chang-Jun Hou

    2013-12-01

    Full Text Available AIM: To compare the efficiency of intravitreal injection of triamcinolone acetonide(TAor general treatment for the treatment of macular edema in retinal vein occlusion. METHODS: Seventy-five eyes of 75 patients with macular edema of retinal vein occlusion were diagnosed by examination of regular inspection, fundus fluorescein angiography(FFAand optic coherence tomography(OCT. There were 31 patients in general treatment group and 44 patients in TA group. There were no significant differences between the two groups with regards to patient's age, duration of disease, intraocular pressure(IOP, best-corrected visual acuity(BCVA, central macular thickness(CMTat baseline. Comprehensive ophthalmic evaluation was performed at baseline and at week 4 and 12 after treatment. Main outcome measures included IOP, BCVA and CMT by OCT.RESULTS: Separate within-group analysis of showed significant reduction in CMT from baseline in TA group at week 12. The results showed significant improvement in BCVA in TA group and general treatment group. But no significant interaction between groups were observed of BCVA at week 4 and 12. There was a significant increase in IOP(>5mmHgin the TA group when compared with the general treatment group at week 4, but no significant interaction between groups at week 12.CONCLUSION: The result shows that general approach and intravitreal injection of triamcinolone acetonide are well tolerated wiht a significant improvement in BCVA and decrease in macular edema in retinal vein occlusion. But we must be attention to the increased IOP after intravitreal injection of TA.

  12. A case of Mac Tel 2 with an unusual sub macular vitelliform lesion.

    Science.gov (United States)

    Lekha, T; Sarwate, Nikit; Sarwate, Renuka

    2015-01-01

    Observational case report describing the clinical, FFA, OCT and mfERG findings in an elderly female patient with atypical features of macular telangiectasia (Mac Tel 2) RESULTS: A 71-year-old lady was detected to have characteristic features of Mac Tel 2 in the left eye (LE) and a yellowish sub macular vitelliform like lesion in the right eye (RE). FFA showed ill defined hyper fluorescence in the RE and telangiectasia and parafoveal leakage typical of Mac Tel 2 in the LE. On OCT RE had hyper reflective clump of echoes subfoveally with an intact RPE and LE had foveal thinning with hypo reflective intraretinal cavities. mfERG responses were normal in the RE and reduced in the LE. During the course of 3 years LE showed natural progression while RE remained unchanged. Structural and functional evaluation of an unusual sub macular vitelliform lesion seen in association with Mac Tel 2 and its course over a period of 3 years is described. The differentiating features of this lesion from adult onset foveomacular vitelliform dystrophy (AFMD) are discussed.

  13. Sunlight exposure, antioxidants, and age-related macular degeneration.

    Science.gov (United States)

    Fletcher, Astrid E; Bentham, Graham C; Agnew, Maureen; Young, Ian S; Augood, Cristina; Chakravarthy, Usha; de Jong, Paulus T V M; Rahu, Mati; Seland, Johan; Soubrane, Gisele; Tomazzoli, Laura; Topouzis, Fotis; Vingerling, Johannes R; Vioque, Jesus

    2008-10-01

    To examine the association of sunlight exposure and antioxidant level with age-related macular degeneration (AMD). Four thousand seven hundred fifty-three participants aged 65 years or older in the European Eye Study underwent fundus photography, were interviewed for adult lifetime sunlight exposure, and gave blood for antioxidant analysis. Blue light exposure was estimated by combining meteorologic and questionnaire data. Data on sunlight exposure and antioxidants were available in 101 individuals with neovascular AMD, 2182 with early AMD, and 2117 controls. No association was found between blue light exposure and neovascular or early AMD. Significant associations were found between blue light exposure and neovascular AMD in individuals in the quartile of lowest antioxidant level-vitamin C, zeaxanthin, vitamin E, and dietary zinc-with an odds ratio of about 1.4 for 1 standard deviation unit increase in blue light exposure. Higher odds ratios for blue light were observed with combined low antioxidant levels, especially vitamin C, zeaxanthin, and vitamin E (odds ratio, 3.7; 95% confidence interval, 1.6-8.9), which were also associated with early stages of AMD. Although it is not possible to establish causality between sunlight exposure and neovascular AMD, our results suggest that people in the general population should use ocular protection and follow dietary recommendations for the key antioxidant nutrients.

  14. [Age-related macular degeneration: paradigm shift from recent findings].

    Science.gov (United States)

    Yanagi, Yasuo

    2015-03-01

    This review describes recent advances in age-related macular degeneration (AMD), based mainly on our own research findings. First, we investigated the effect of choroidal abnormality and found that choroidal hyperpermeability was observed more often in eyes with polypoidal choroidal vasculopathy (PCV) than in eyes with typical AMD; however, even in eyes with typical AMD, substantial proportion of eyes showed hyperpermeability. Exudative AMD eyes with choroidal hyperpermeability showed thickened choroid more widely than previously demonstrated, and there were more frequent abnormalities with fundus autofluorescence examination. Thus, rather than classifying exudative AMD into PCV and typical AMD, AMD classification by choroidal hyperpermeability may be useful in illustrating the difference of certain clinical characteristics. Second, we investigated the importance of vitreomacular adhesion in the treatment outcome of exudative AMD. The currently prevailing hypothesis is that premacular VEGF concentration is lower in eyes with posterior vitreous detachment (PVD) than in eyes without PVD, thus leading to good treatment outcomes; however, in the current study, we showed that not only VEGF but also anti-angiogenic factor, interferon-inducible protein 10 (IP-10), is affected according to PVD. These results suggest that the effect of PVD on the intraocular environment is more complicated than previously thought, and may have diverse functions. Last, we explained the mechanism of AMD progression based mainly on our basic research. Our research showed that age-related decline of autophagic activity may, at least partly, contribute to the precursor lesion of AMD.

  15. Bilateral Macular Roth Spots as a Manifestation of Subacute Endocarditis

    Directory of Open Access Journals (Sweden)

    Karolina Ceglowska

    2015-01-01

    Full Text Available A 42-year-old man presented with a 2-day history of impaired vision in the right eye (OD. The best corrected visual acuity (BCVA (LogMAR was 1.1 for the right eye and 0.0 for the left eye (OS. Fundus examination revealed white-centered hemorrhages resembling Roth spots in both macular regions. The spectral-domain optical coherence tomography (SD-OCT showed intraretinal pseudocysts and hyperreflective deposits in the areas corresponding to the Roth spots. Conducted blood tests revealed elevated D-dimer concentration, increased total number of neutrophils, high C-reactive protein concentration, and elevated erythrocyte sedimentation rate. Procalcitonin concentration, platelet count, and body temperature were within normal ranges. A blood culture was ordered and yielded Streptococcus mitis and intravenous antibiotics were started immediately. The patient started complaining of chest and left calf pain. The systemic examination revealed infective endocarditis accompanied by bicuspid aortic valve and paravalvular abscess formation. The patient underwent cardiac surgery with mechanical aortic valve implantation. After recovery, the patient’s visual acuities improved fully. Control ophthalmic examination, including SD-OCT, showed no abnormalities.

  16. Translational Research for Muscular Dystrophy

    Science.gov (United States)

    2014-05-01

    by successful treatment of patient mutations. In Aim 3, we have completed generation of a DBA/2J congenic mdx strain that appears to better model the...in-frame deletions that are expected to arise by successful treatment of patient mutations. Our transgenic experiments will model the best-case...macrophage infiltration and necrosis), weight loss after weaning, joint contractures , kyphosis, dystrophy of extraocular muscles, abnormal

  17. [Dystroglycan linkage and muscular dystrophy].

    Science.gov (United States)

    Shimizu, Teruo

    2002-11-01

    Dystroglycan is a key complex between basal lamina laminin, extracellularly and membrano-cytoskeleton, intracellularly. The damage of this linkage is turned out to cause muscular dystrophies. Dystroglycan knockout is lethal. Dystroglycan-associated intracellular proteins such as dystrophin, dystrobrevin, sarcoglycans, plectin and caveolin-3 are responsible for causing severe (Duchenne type) and moderate forms (Becker, LGMDs). Laminin, dystroglycan-binding extracellular protein, is deficient in the most severe form of congenital muscular dystrophy with normal intelligence and eye. Recently, a remarkable progress is made in most severe forms of congenital muscular dystrophy with anomalies of brain and eye such as Fukuyama type (Japan) and muscle-eye-brain disease (Finland). The gene product for Fukuyama type, fukutin, belongs to a family of glycosylation enzymes in bacteria and yeast. Since alpha-dystroglycan contains 14-15 o-glycans, ser/thr-mannose 2-1 GlcNAc 4-1 Gal 3-2 Sial in the middle third mucin-domain and the sial-o-glycan is essential for laminin-binding, and since alpha-dystroglycan is defective in Fukuyama type sarcolemma with anti both sugar moiety- and peptide-antidodies, defective fukutin causes incomplete o-glycosylation of alpha-dystroglycan. In '02, it is clarified that a glycosylation enzyme, POMGnT1 which modifies GlcNAc onto ser/thr-mannose, is defective in 6 MEB patients. The loss of the enzyme activity is turned out to lose alpha-dystroglycan from sarcolemma of MEB. These data strongly suggests that o-glycosylation defect of alpha-dystroglycan causes the most severe congenital muscular dystrophy such as Fukuyama type, MEB and Walker Warburg syndrome.

  18. Navigated macular laser decreases retreatment rate for diabetic macular edema: a comparison with conventional macular laser

    Directory of Open Access Journals (Sweden)

    Neubauer AS

    2013-01-01

    Full Text Available Aljoscha S Neubauer,1,* Julian Langer,1,* Raffael Liegl,1 Christos Haritoglou,1 Armin Wolf,1 Igor Kozak,2 Florian Seidensticker,1 Michael Ulbig,1 William R Freeman,2 Anselm Kampik,1 Marcus Kernt,1 1Ludwig-Maximilians University, Department of Ophthalmology, Munich, Germany; 2Jacobs Retina Center, University of California San Diego, La Jolla, CA, USA*These authors contributed equally to this workBackground: The purpose of this study was to evaluate and compare clinical outcomes and retreatment rates using navigated macular laser versus conventional laser for the treatment of diabetic macular edema (DME.Methods: In this prospective, interventional pilot study, 46 eyes from 46 consecutive patients with DME were allocated to receive macular laser photocoagulation using navigated laser. Best corrected visual acuity and retreatment rate were evaluated for up to 12 months after treatment. The control group was drawn based on chart review of 119 patients treated by conventional laser at the same institutions during the same time period. Propensity score matching was performed with Stata, based on the nearest-neighbor method.Results: Propensity score matching for age, gender, baseline visual acuity, and number of laser spots yielded 28 matched patients for the control group. Visual acuity after navigated macular laser improved from a mean 0.48 ± 0.37 logMAR by a mean +2.9 letters after 3 months, while the control group showed a mean −4.0 letters (P = 0.03. After 6 months, navigated laser maintained a mean visual gain of +3.3 letters, and the conventional laser group showed a slower mean increase to +1.9 letters versus baseline. Using Kaplan-Meier analysis, the laser retreatment rate showed separation of the survival curves after 2 months, with fewer retreatments in the navigated group than in the conventional laser group during the first 8 months (18% versus 31%, respectively, P = 0.02.Conclusion: The short-term results of this pilot study suggest

  19. Simple, Inexpensive Technique for High-Quality Smartphone Fundus Photography in Human and Animal Eyes

    OpenAIRE

    Haddock, Luis J.; Kim, David Y.; Shizuo Mukai

    2013-01-01

    Purpose. We describe in detail a relatively simple technique of fundus photography in human and rabbit eyes using a smartphone, an inexpensive app for the smartphone, and instruments that are readily available in an ophthalmic practice. Methods:. Fundus images were captured with a smartphone and a 20D lens with or without a Koeppe lens. By using the coaxial light source of the phone, this system works as an indirect ophthalmoscope that creates a digital image of the fundus. The application wh...

  20. Retinal Fundus Image Enhancement Using the Normalized Convolution and Noise Removing

    OpenAIRE

    Peishan Dai; Hanwei Sheng; Jianmei Zhang; Ling Li; Jing Wu; Min Fan

    2016-01-01

    Retinal fundus image plays an important role in the diagnosis of retinal related diseases. The detailed information of the retinal fundus image such as small vessels, microaneurysms, and exudates may be in low contrast, and retinal image enhancement usually gives help to analyze diseases related to retinal fundus image. Current image enhancement methods may lead to artificial boundaries, abrupt changes in color levels, and the loss of image detail. In order to avoid these side effects, a new ...

  1. Macular epiretinal brachytherapy in treated age-related macular degeneration (MERITAGE): month 12 optical coherence tomography and fluorescein angiography.

    Science.gov (United States)

    Petrarca, Robert; Dugel, Pravin U; Nau, Jeffrey; Slakter, Jason S; Jaffe, Glenn J; Jackson, Timothy L

    2013-02-01

    To report the optical coherence tomography (OCT) and fundus fluorescein angiography (FFA) results of the Macular Epiretinal Brachytherapy in Treated Age-Related Macular Degeneration study. Prospective, multicenter, interventional, noncontrolled clinical trial. Fifty-three eyes of 53 participants with chronic, active neovascular age-related macular degeneration (AMD) requiring frequent anti-vascular endothelial growth factor retreatment. Participants underwent pars plana vitrectomy with a single 24-gray dose of epimacular brachytherapy (EMB), delivered with an intraocular, handheld, cannula containing a strontium 90/yttrium 90 source positioned over the active lesion. Participants were retreated with ranibizumab administered monthly as needed, using predefined retreatment criteria. Patients underwent FFA at baseline, month 1, and month 12. Patients underwent optical coherence tomography (OCT) at baseline and then monthly for 12 months. The FFA and OCT images were evaluated by independent, central reading facilities. Change in OCT centerpoint thickness and angiographic lesion size 12 months after EMB. Mean centerpoint thickness increased by 50 μm, from 186 to 236 μm (P = 0.292), but 70% of participants had an increase of less than the mean, with a median increase of only 1.8 μm. The FFA total lesion size increased slightly by 0.79 mm(2), from 14.69 to 15.48 mm(2) (P = 0.710). Total choroidal neovascularization (CNV) area increased by 1.17 mm(2), from 12.94 to 14.12 mm(2) (P = 0.556). The classic CNV area decreased substantially by 3.70 mm(2), from 3.90 to 0.20 mm(2) (P<0.01). Predominantly classic lesions showed the greatest response, with mean Early Treatment Diabetic Retinopathy Study visual acuity improving by 1.5 letters (versus -4.0 for all participants combined); mean centerpoint thickness decreased by 43 μm (P = 0.875). The angiographic and OCT response did not correlate with lesion size at baseline. In chronic, active, neovascular AMD, EMB is associated

  2. [Top ten progressions of clinical research in fundus diseases in China].

    Science.gov (United States)

    2014-11-01

    Ten research items in the past five years representing the progression of clinical research in fundus diseases in China were voted by specialists from the Ocular Fundus Disease Group of Ophthalmology Society of Chinese Medical Association. Choroidal neovascular disease, pediatric retinal disease, polypoidal choroidal vasculopathy, intraocular malignant tumor, and intraocular infection caused by specific pathogens are covered. Novel treatment, like anti-VEGF medication, PDT, minimally invasive vitrectomy, and intraocular injection, establishment of the Clinical Research Center of New Drug Development, and the epidemiologic study of fundus diseases are also included. These landmark research progressions represent the power and influence of Chinese fundus disease scholars in the world.

  3. Retinal Fundus Image Enhancement Using the Normalized Convolution and Noise Removing.

    Science.gov (United States)

    Dai, Peishan; Sheng, Hanwei; Zhang, Jianmei; Li, Ling; Wu, Jing; Fan, Min

    2016-01-01

    Retinal fundus image plays an important role in the diagnosis of retinal related diseases. The detailed information of the retinal fundus image such as small vessels, microaneurysms, and exudates may be in low contrast, and retinal image enhancement usually gives help to analyze diseases related to retinal fundus image. Current image enhancement methods may lead to artificial boundaries, abrupt changes in color levels, and the loss of image detail. In order to avoid these side effects, a new retinal fundus image enhancement method is proposed. First, the original retinal fundus image was processed by the normalized convolution algorithm with a domain transform to obtain an image with the basic information of the background. Then, the image with the basic information of the background was fused with the original retinal fundus image to obtain an enhanced fundus image. Lastly, the fused image was denoised by a two-stage denoising method including the fourth order PDEs and the relaxed median filter. The retinal image databases, including the DRIVE database, the STARE database, and the DIARETDB1 database, were used to evaluate image enhancement effects. The results show that the method can enhance the retinal fundus image prominently. And, different from some other fundus image enhancement methods, the proposed method can directly enhance color images.

  4. Retinal Fundus Image Enhancement Using the Normalized Convolution and Noise Removing

    Directory of Open Access Journals (Sweden)

    Peishan Dai

    2016-01-01

    Full Text Available Retinal fundus image plays an important role in the diagnosis of retinal related diseases. The detailed information of the retinal fundus image such as small vessels, microaneurysms, and exudates may be in low contrast, and retinal image enhancement usually gives help to analyze diseases related to retinal fundus image. Current image enhancement methods may lead to artificial boundaries, abrupt changes in color levels, and the loss of image detail. In order to avoid these side effects, a new retinal fundus image enhancement method is proposed. First, the original retinal fundus image was processed by the normalized convolution algorithm with a domain transform to obtain an image with the basic information of the background. Then, the image with the basic information of the background was fused with the original retinal fundus image to obtain an enhanced fundus image. Lastly, the fused image was denoised by a two-stage denoising method including the fourth order PDEs and the relaxed median filter. The retinal image databases, including the DRIVE database, the STARE database, and the DIARETDB1 database, were used to evaluate image enhancement effects. The results show that the method can enhance the retinal fundus image prominently. And, different from some other fundus image enhancement methods, the proposed method can directly enhance color images.

  5. Retinal Fundus Image Enhancement Using the Normalized Convolution and Noise Removing

    Science.gov (United States)

    2016-01-01

    Retinal fundus image plays an important role in the diagnosis of retinal related diseases. The detailed information of the retinal fundus image such as small vessels, microaneurysms, and exudates may be in low contrast, and retinal image enhancement usually gives help to analyze diseases related to retinal fundus image. Current image enhancement methods may lead to artificial boundaries, abrupt changes in color levels, and the loss of image detail. In order to avoid these side effects, a new retinal fundus image enhancement method is proposed. First, the original retinal fundus image was processed by the normalized convolution algorithm with a domain transform to obtain an image with the basic information of the background. Then, the image with the basic information of the background was fused with the original retinal fundus image to obtain an enhanced fundus image. Lastly, the fused image was denoised by a two-stage denoising method including the fourth order PDEs and the relaxed median filter. The retinal image databases, including the DRIVE database, the STARE database, and the DIARETDB1 database, were used to evaluate image enhancement effects. The results show that the method can enhance the retinal fundus image prominently. And, different from some other fundus image enhancement methods, the proposed method can directly enhance color images. PMID:27688745

  6. [Therapeutic approach in persistent diabetic macular edema].

    Science.gov (United States)

    Brănişteanu, Daniel; Moraru, Andreea

    2014-01-01

    Terminology of persistent diabetic macular edema has been initially reserved to cases unresponsive to conventional laser photocoagulation according to ETDRS criteria. While knowledge about pathophysiology of macular edema evolved and new drugs became available, the terminology of persistent diabetic macular edema expanded to include resistance to most current therapies. The purpose of this paper is to review medical and surgical options in the treatment of such difficult cases according to literature data and personal experience.

  7. Semi-automated retinal vessel analysis in nonmydriatic fundus photography.

    Science.gov (United States)

    Schuster, Alexander Karl-Georg; Fischer, Joachim Ernst; Vossmerbaeumer, Urs

    2014-02-01

    Funduscopic assessment of the retinal vessels may be used to assess the health status of microcirculation and as a component in the evaluation of cardiovascular risk factors. Typically, the evaluation is restricted to morphological appreciation without strict quantification. Our purpose was to develop and validate a software tool for semi-automated quantitative analysis of retinal vasculature in nonmydriatic fundus photography. matlab software was used to develop a semi-automated image recognition and analysis tool for the determination of the arterial-venous (A/V) ratio in the central vessel equivalent on 45° digital fundus photographs. Validity and reproducibility of the results were ascertained using nonmydriatic photographs of 50 eyes from 25 subjects recorded from a 3DOCT device (Topcon Corp.). Two hundred and thirty-three eyes of 121 healthy subjects were evaluated to define normative values. A software tool was developed using image thresholds for vessel recognition and vessel width calculation in a semi-automated three-step procedure: vessel recognition on the photograph and artery/vein designation, width measurement and calculation of central retinal vessel equivalents. Mean vessel recognition rate was 78%, vessel class designation rate 75% and reproducibility between 0.78 and 0.91. Mean A/V ratio was 0.84. Application on a healthy norm cohort showed high congruence with prior published manual methods. Processing time per image was one minute. Quantitative geometrical assessment of the retinal vasculature may be performed in a semi-automated manner using dedicated software tools. Yielding reproducible numerical data within a short time leap, this may contribute additional value to mere morphological estimates in the clinical evaluation of fundus photographs. © 2013 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  8. Retinal oxygen saturation evaluation by multi-spectral fundus imaging

    Science.gov (United States)

    Khoobehi, Bahram; Ning, Jinfeng; Puissegur, Elise; Bordeaux, Kimberly; Balasubramanian, Madhusudhanan; Beach, James

    2007-03-01

    Purpose: To develop a multi-spectral method to measure oxygen saturation of the retina in the human eye. Methods: Five Cynomolgus monkeys with normal eyes were anesthetized with intramuscular ketamine/xylazine and intravenous pentobarbital. Multi-spectral fundus imaging was performed in five monkeys with a commercial fundus camera equipped with a liquid crystal tuned filter in the illumination light path and a 16-bit digital camera. Recording parameters were controlled with software written specifically for the application. Seven images at successively longer oxygen-sensing wavelengths were recorded within 4 seconds. Individual images for each wavelength were captured in less than 100 msec of flash illumination. Slightly misaligned images of separate wavelengths due to slight eye motion were registered and corrected by translational and rotational image registration prior to analysis. Numerical values of relative oxygen saturation of retinal arteries and veins and the underlying tissue in between the artery/vein pairs were evaluated by an algorithm previously described, but which is now corrected for blood volume from averaged pixels (n > 1000). Color saturation maps were constructed by applying the algorithm at each image pixel using a Matlab script. Results: Both the numerical values of relative oxygen saturation and the saturation maps correspond to the physiological condition, that is, in a normal retina, the artery is more saturated than the tissue and the tissue is more saturated than the vein. With the multi-spectral fundus camera and proper registration of the multi-wavelength images, we were able to determine oxygen saturation in the primate retinal structures on a tolerable time scale which is applicable to human subjects. Conclusions: Seven wavelength multi-spectral imagery can be used to measure oxygen saturation in retinal artery, vein, and tissue (microcirculation). This technique is safe and can be used to monitor oxygen uptake in humans. This work

  9. Bietti crystalline dystrophy and choroidal neovascularisation.

    Science.gov (United States)

    Gupta, B; Parvizi, S; Mohamed, M D

    2011-02-01

    Bietti crystalline dystrophy is a rare autosomal recessive condition characterised by the presence of crystals in the retina and is followed by retinal and choroidal degeneration. We present a novel finding of juxtafoveal choroidal neovascularisation in Bietti crystalline dystrophy and demonstrate a spectral domain optical coherence tomography image of this disorder.

  10. Multimodal Image Analysis in Acquired Vitelliform Lesions and Adult-Onset Foveomacular Vitelliform Dystrophy

    Directory of Open Access Journals (Sweden)

    Ricardo Rocha Bastos

    2016-01-01

    Full Text Available Purpose. To characterize vitelliform lesions (VLs in adult-onset foveomacular vitelliform dystrophy (AOFVD and acquired vitelliform (AVL patients using multimodal image analysis. Methods. Retrospective study of twenty-eight eyes from nineteen patients diagnosed with AVL or AOFVD. They were evaluated by color fundus photographs, fundus autofluorescence (FAF, fluorescein angiography (FA, and spectral-domain optical coherence tomography (SD-OCT. Results. Bilateral VLs were associated with AOFVD (p=0.013. Regular and centered VLs were associated with AOFVD (p=0.004 and p=0.016, whereas irregular and noncentered lesions were more frequent in AVL patients. Visual acuity, greatest linear dimension (GLD, lesion height (LH, and pseudohypopyon were similar between groups. Whereas median LH and GLD in AVL group diminished significantly during follow-up (p=0.009 and p=0.001, AOFVD lesions tended to become larger and thicker. Conclusions. When consulting a patient presenting a VL with unknown age of onset, familial history, or previous retinal diseases, some aspects of multimodal imaging assessment may lead the ophthalmologist to a correct diagnosis.

  11. High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation

    Directory of Open Access Journals (Sweden)

    Kiyoko Gocho

    2014-01-01

    Full Text Available The purpose of this study was to determine the retinal morphology of eyes with Bietti crystalline dystrophy (BCD associated with a CYP4V2 mutation using high-resolution imaging techniques. Three subjects with BCD underwent detailed ophthalmic examinations. High-resolution fundus images were obtained with an adaptive optics (AO fundus camera. A common homozygous mutation was detected in the three patients. Funduscopic examination of the three patients revealed the presence of crystalline deposits in the retina, and all of the crystalline deposits were also detected in the infrared (IR images. The crystals observed in the IR images were seen as bright reflective plaques located on the RPE layer in the SD-OCT images. The clusters of hyperreflective signals in the AO images corresponded to the crystals in the IR images. High-magnification AO images revealed that the clusters of hyperreflective signals consisted of circular spots that are similar to the signals of cone photoreceptors. Most of these circular spots were detected in healthy areas in the FAF images. There is a possibility that circular spots observed by AO are residual cone photoreceptors located over the crystals.

  12. High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation.

    Science.gov (United States)

    Gocho, Kiyoko; Kameya, Shuhei; Akeo, Keiichiro; Kikuchi, Sachiko; Usui, Ayumi; Yamaki, Kunihiko; Hayashi, Takaaki; Tsuneoka, Hiroshi; Mizota, Atsushi; Takahashi, Hiroshi

    2014-01-01

    The purpose of this study was to determine the retinal morphology of eyes with Bietti crystalline dystrophy (BCD) associated with a CYP4V2 mutation using high-resolution imaging techniques. Three subjects with BCD underwent detailed ophthalmic examinations. High-resolution fundus images were obtained with an adaptive optics (AO) fundus camera. A common homozygous mutation was detected in the three patients. Funduscopic examination of the three patients revealed the presence of crystalline deposits in the retina, and all of the crystalline deposits were also detected in the infrared (IR) images. The crystals observed in the IR images were seen as bright reflective plaques located on the RPE layer in the SD-OCT images. The clusters of hyperreflective signals in the AO images corresponded to the crystals in the IR images. High-magnification AO images revealed that the clusters of hyperreflective signals consisted of circular spots that are similar to the signals of cone photoreceptors. Most of these circular spots were detected in healthy areas in the FAF images. There is a possibility that circular spots observed by AO are residual cone photoreceptors located over the crystals.

  13. Macular Degeneration Prevention and Risk Factors

    Science.gov (United States)

    ... Grant Terms & Conditions Patent & Intellectual Property Policy For Current Awardees FAQs Our Funding Philosophy ... Alzheimer’s Disease Research Macular Degeneration Research National Glaucoma Research ...

  14. [Pathogenesis of age-related macular degeneration].

    Science.gov (United States)

    Kaarniranta, Kai; Seitsonen, Sanna; Paimela, Tuomas; Meri, Seppo; Immonen, Ilkka

    2009-01-01

    Age-related macular degeneration is a multiform disease of the macula, the region responsible for detailed central vision. In recent years, plenty of new knowledge of the pathogenesis of this disease has been obtained, and the treatment of exudative macular degeneration has greatly progressed. The number of patients with age-related macular degeneration will multiply in the following decades, because knowledge of mechanisms of development of macular degeneration that could be subject to therapeutic measures is insufficient. Central underlying factors are genetic inheritance, exposure of the retina to chronic oxidative stress and accumulation of inflammation-inducing harmful proteins into or outside of retinal cells.

  15. Functional impairment with minimal macular damage in femtosecond laser plasma injury: case report

    Directory of Open Access Journals (Sweden)

    Cristina Freitas

    2013-10-01

    Full Text Available A 26 years old female patient was examined twenty-four hours after observing laser-induced plasma formation in a process of nanoparticle production complaining of bilateral central scotoma. The ophthalmologic evaluation included dilated fundus observation, fluorescein angiography, and optical coherence tomography (OCT. In the first assessment, visual acuity was 20/20 in the right eye and 20/25 in the left eye. Ophthalmologic evaluation revealed colour changes in the macular region of both eyes. Optical coherence tomography showed a central interruption of the photoreceptor layer in both eyes and fluorescein angiography was normal. In subsequent appointments acuity was always 20/20 in both eyes. Abnormal optical coherence tomography findings disappeared in less than 5 months, but subjective complaints of scotoma in the left eye remained. Extra care must be taken in this type of experiment by, for example, reducing the time that the retina is directly exposed to the plasma radiation.

  16. New research progress on the epidemiology of age-related macular degeneration

    Directory of Open Access Journals (Sweden)

    Ming-Xing Wu

    2015-02-01

    Full Text Available Age-related macular degeneration(AMDis a kind of age-related blinding degenerative fundus lesions, totally about 30 million patients suffering from AMD all over the world, with about 500 000 people blind for it yearly. As the development of economy and the aging of the population intensified, incidence of AMD indicates a trend of rising year by year, being the third major cause of blindness in our country. At present, the pathogenesis of AMD is not fully clear, as reported it may be related to oxidative stress, inflammatory immune response, VEGF and genetic manipulation. Clinical treatments mainly include photodynamic therapy, drug therapy, radiation therapy, laser photocoagulaory operation, the pupil warm treatments, Chinese medicine and intravitreous injection VEGF antagonists such as Ranibizumab, Conbercept and so on. In this issue, we mainly expound on the progress in the epidemiological studies of AMD, especially elaborate the progress made on genetic manipulation in recent years.

  17. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES.

    Science.gov (United States)

    Inoue, Maiko; Kiss, Szilárd; Freund, K Bailey

    2015-01-01

    To show the multimodal imaging findings observed in a patient in whom the recognition of characteristic pigmentary retinopathy led to the diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Retrospective case report. A 47-year-old woman was referred for evaluation of macular changes detected on a routine ophthalmologic examination. Funduscopic examination showed bilateral findings of the focal areas of pigment hyperplasia in the paramacular region, forming a ringlike pattern in both eyes. Multimodal imaging was performed to further characterize the fundus changes. A review of systems revealed hearing difficulties and neurologic symptoms that further raised a suspicion for retinopathy associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes syndrome. Genetic testing showing the mitochondrial DNA A3243G point mutation confirmed the diagnosis. Multimodal imaging is a useful technique in diagnosing retinopathy associated with the mitochondrial DNA A3243G point mutation. Characteristic pigmentary retinopathy with suggestive systemic findings should prompt genetic testing for this mutation.

  18. Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy

    Institute of Scientific and Technical Information of China (English)

    MA Kai; LIU Ning-pu; YANG Xiu-fen; HAN Cui; ZHANG Ning; XU Jun; LIU Shou-bin; LU Hal; Torkel Snellingen; WANG Ning-li

    2009-01-01

    Background A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified.The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage nalysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography,fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months.Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted.Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD.The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUC Y2D, and AIPL1) and two genetic loci (4p15.2-16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings of this Chinese family with CACD shared

  19. Development and Validation of a Deep Learning Algorithm for Detection of Diabetic Retinopathy in Retinal Fundus Photographs.

    Science.gov (United States)

    Gulshan, Varun; Peng, Lily; Coram, Marc; Stumpe, Martin C; Wu, Derek; Narayanaswamy, Arunachalam; Venugopalan, Subhashini; Widner, Kasumi; Madams, Tom; Cuadros, Jorge; Kim, Ramasamy; Raman, Rajiv; Nelson, Philip C; Mega, Jessica L; Webster, Dale R

    2016-12-13

    Deep learning is a family of computational methods that allow an algorithm to program itself by learning from a large set of examples that demonstrate the desired behavior, removing the need to specify rules explicitly. Application of these methods to medical imaging requires further assessment and validation. To apply deep learning to create an algorithm for automated detection of diabetic retinopathy and diabetic macular edema in retinal fundus photographs. A specific type of neural network optimized for image classification called a deep convolutional neural network was trained using a retrospective development data set of 128 175 retinal images, which were graded 3 to 7 times for diabetic retinopathy, diabetic macular edema, and image gradability by a panel of 54 US licensed ophthalmologists and ophthalmology senior residents between May and December 2015. The resultant algorithm was validated in January and February 2016 using 2 separate data sets, both graded by at least 7 US board-certified ophthalmologists with high intragrader consistency. Deep learning-trained algorithm. The sensitivity and specificity of the algorithm for detecting referable diabetic retinopathy (RDR), defined as moderate and worse diabetic retinopathy, referable diabetic macular edema, or both, were generated based on the reference standard of the majority decision of the ophthalmologist panel. The algorithm was evaluated at 2 operating points selected from the development set, one selected for high specificity and another for high sensitivity. The EyePACS-1 data set consisted of 9963 images from 4997 patients (mean age, 54.4 years; 62.2% women; prevalence of RDR, 683/8878 fully gradable images [7.8%]); the Messidor-2 data set had 1748 images from 874 patients (mean age, 57.6 years; 42.6% women; prevalence of RDR, 254/1745 fully gradable images [14.6%]). For detecting RDR, the algorithm had an area under the receiver operating curve of 0.991 (95% CI, 0.988-0.993) for EyePACS-1 and 0

  20. Glaucoma detection based on local binary patterns in fundus photographs

    Science.gov (United States)

    Alsheh Ali, Maya; Hurtut, Thomas; Faucon, Timothée.; Cheriet, Farida

    2014-03-01

    Glaucoma, a group of diseases that lead to optic neuropathy, is one of the most common reasons for blindness worldwide. Glaucoma rarely causes symptoms until the later stages of the disease. Early detection of glaucoma is very important to prevent visual loss since optic nerve damages cannot be reversed. To detect glaucoma, purely data-driven techniques have advantages, especially when the disease characteristics are complex and when precise image-based measurements are difficult to obtain. In this paper, we present our preliminary study for glaucoma detection using an automatic method based on local texture features extracted from fundus photographs. It implements the completed modeling of Local Binary Patterns to capture representative texture features from the whole image. A local region is represented by three operators: its central pixel (LBPC) and its local differences as two complementary components, the sign (which is the classical LBP) and the magnitude (LBPM). An image texture is finally described by both the distribution of LBP and the joint-distribution of LBPM and LBPC. Our images are then classified using a nearest-neighbor method with a leave-one-out validation strategy. On a sample set of 41 fundus images (13 glaucomatous, 28 non-glaucomatous), our method achieves 95:1% success rate with a specificity of 92:3% and a sensitivity of 96:4%. This study proposes a reproducible glaucoma detection process that could be used in a low-priced medical screening, thus avoiding the inter-experts variability issue.

  1. Vitelliform macular degeneration associated with mitochondrial myopathy.

    OpenAIRE

    Modi, G; Heckman, J M; Saffer, D

    1992-01-01

    A patient with mitochondrial myopathy is described. Examination of his fundus revealed bilateral vitelliform degeneration of the maculae. This lesion is a focal abnormality of the retinal pigment epithelium and may be a manifestation of the underlying mitochondrial disease.

  2. Transpupillary thermotherapy in subfoveal choroidal neovascular membrane secondary to age-related macular degeneration

    Directory of Open Access Journals (Sweden)

    Verma Lalit

    2004-01-01

    Full Text Available Purpose: To report our initial experience in the treatment of subfoveal choroidal neovascular membrane, secondary to age-related macular degeneration (AMD by transpupillary thermotherapy (TTT. Methods: Fifty consecutive patients with subfoveal choroidal neovascularisation (CNV secondary to AMD, were included in the study. The parameters assessed before the TTT were visual acuity by ETDRS chart, scotoma score by Amsler grid chart, reading speed, fundus examination by direct and indirect ophthalmoscope as well as +90 Diopter lens followed by digital fundus photography and fluorescein angiography (FA. Results: The letter visual acuity improved or stabilized in 72% cases up to 12 weeks after TTT. Mean scotoma score decreased from a mean of 47.56, to 43.56 at 6 weeks and to 37 at 12 weeks. Mean reading speed increased from 27.04 words/minute at pretreatment to 34.52 words/minute at 6 weeks and 37.33 words/minute 12 weeks after TTT. Conclusion: TTT is not only a cheaper alternative to photodynamic therapy (PDT, but also is an efficacious tool in stabilisation or improvement of visual acuity in the management of subfoveal choroidal neovascular membrane due to AMD.

  3. Decision Support System for Age-Related Macular Degeneration Using Convolutional Neural Networks

    Directory of Open Access Journals (Sweden)

    Mostafa Langarizadeh

    2017-09-01

    Full Text Available Introduction: Age-related macular degeneration (AMD is one of the major causes of visual loss among the elderly. It causes degeneration of cells in the macula. Early diagnosis can be helpful in preventing blindness. Drusen are the initial symptoms of AMD. Since drusen have a wide variety, locating them in screening images is difficult and time-consuming. An automated digital fundus photography-based screening system help overcome such drawbacks. The main objective of this study was to suggest a novel method to classify AMD and normal retinal fundus images. Materials and Methods: The suggested system was developed using convolutional neural networks. Several methods were adopted for increasing data such as horizontal reflection, random crop, as well as transfer and combination of such methods. The suggested system was evaluated using images obtained from STARE database and a local dataset. Results: The local dataset contained 3195 images (2070 images of AMD suspects and 1125 images of healthy retina and the STARE dataset comprised of 201 images (105 images of AMD suspects and 96 images of healthy retina. According to the results, the accuracies of the local and standard datasets were 0.95 and 0.81, respectively. Conclusion: Diagnosis and screening of AMD is a time-consuming task for specialists. To overcome this limitation, we attempted to design an intelligent decision support system for the diagnosis of AMD fundus using retina images. The proposed system is an important step toward providing a reliable tool for supervising patients. Early diagnosis of AMD can lead to timely access to treatment.

  4. [Current studies in myotonic dystrophy].

    Science.gov (United States)

    Zhao, Yimeng; Ishiura, Shoichi

    2014-03-01

    Myotonic dystrophy (DM) is a genetic, progressive, multisystemic disease with muscular disorder as its primary symptom. There are two types of DM (DM1 and DM2) caused by mutations in different genes, and in Japan, DM occurs with an incidence of approximately 1 in 20,000. The pathogenic mechanism underlying the disease is RNA toxicity caused by transcripts of aberrantly elongated CTG or CCTG repeats located in the 3' untranslated region or in the intron. The current treatments for DM is limited to symptomatic care. In this review, we will discuss several new therapeutic strategies based on recent studies of RNA toxicity.

  5. Nonmydriatic Ocular Fundus Photography in the Emergency Department: How It Can Benefit Neurologists.

    Science.gov (United States)

    Bruce, Beau B

    2015-10-01

    Examination of the ocular fundus is a critical aspect of the neurologic examination. For example, in patients with headache the ocular fundus examination is needed to uncover "red flags" suggestive of secondary etiologies. However, ocular fundus examination is infrequently and poorly performed in clinical practice. Nonmydriatic ocular fundus photography provides an alternative to direct ophthalmoscopy that has been studied as part of the Fundus Photography versus Ophthalmoscopy Trial Outcomes in the Emergency Department (FOTO-ED) Study. Herein, the results of the FOTO-ED study are reviewed with a particular focus on the study's implications for the acute care of patients presenting with headache and focal neurologic deficits. In headache patients, not only optic disc edema and optic disc pallor were observed as would be expected, but also a large number of abnormalities associated with hypertension. Based upon subjects with focal neurologic deficits, the FOTO-ED study suggests that the ocular fundus examination may assist with the triage of patients presenting with suspected transient ischemic attack. Continued advances in the ease and portability of nonmydriatic fundus photography will hopefully help to restore ocular fundus examination as a routinely performed component of all neurologic examinations.

  6. Simple, inexpensive technique for high-quality smartphone fundus photography in human and animal eyes.

    Science.gov (United States)

    Haddock, Luis J; Kim, David Y; Mukai, Shizuo

    2013-01-01

    Purpose. We describe in detail a relatively simple technique of fundus photography in human and rabbit eyes using a smartphone, an inexpensive app for the smartphone, and instruments that are readily available in an ophthalmic practice. Methods. Fundus images were captured with a smartphone and a 20D lens with or without a Koeppe lens. By using the coaxial light source of the phone, this system works as an indirect ophthalmoscope that creates a digital image of the fundus. The application whose software allows for independent control of focus, exposure, and light intensity during video filming was used. With this app, we recorded high-definition videos of the fundus and subsequently extracted high-quality, still images from the video clip. Results. The described technique of smartphone fundus photography was able to capture excellent high-quality fundus images in both children under anesthesia and in awake adults. Excellent images were acquired with the 20D lens alone in the clinic, and the addition of the Koeppe lens in the operating room resulted in the best quality images. Successful photodocumentation of rabbit fundus was achieved in control and experimental eyes. Conclusion. The currently described system was able to take consistently high-quality fundus photographs in patients and in animals using readily available instruments that are portable with simple power sources. It is relatively simple to master, is relatively inexpensive, and can take advantage of the expanding mobile-telephone networks for telemedicine.

  7. Differential diagnosis in cases of saddle-like impression of the fundus of the stomach

    Energy Technology Data Exchange (ETDEWEB)

    Hohenberg, G.; Deimer, E.; Schmidmeier, L.

    1984-01-01

    X-ray examination of the stomach sometimes shows a saddle-like impression of the region of the fundus. This phenomenon is without any clinical importance, but there are many diseases such as hiatal hernia, benign and malignant tumours, inflammatory diseases, and varices which are localised at the fundus. Differential diagnostic problems are discussed.

  8. Simple, Inexpensive Technique for High-Quality Smartphone Fundus Photography in Human and Animal Eyes

    Directory of Open Access Journals (Sweden)

    Luis J. Haddock

    2013-01-01

    Full Text Available Purpose. We describe in detail a relatively simple technique of fundus photography in human and rabbit eyes using a smartphone, an inexpensive app for the smartphone, and instruments that are readily available in an ophthalmic practice. Methods. Fundus images were captured with a smartphone and a 20D lens with or without a Koeppe lens. By using the coaxial light source of the phone, this system works as an indirect ophthalmoscope that creates a digital image of the fundus. The application whose software allows for independent control of focus, exposure, and light intensity during video filming was used. With this app, we recorded high-definition videos of the fundus and subsequently extracted high-quality, still images from the video clip. Results. The described technique of smartphone fundus photography was able to capture excellent high-quality fundus images in both children under anesthesia and in awake adults. Excellent images were acquired with the 20D lens alone in the clinic, and the addition of the Koeppe lens in the operating room resulted in the best quality images. Successful photodocumentation of rabbit fundus was achieved in control and experimental eyes. Conclusion. The currently described system was able to take consistently high-quality fundus photographs in patients and in animals using readily available instruments that are portable with simple power sources. It is relatively simple to master, is relatively inexpensive, and can take advantage of the expanding mobile-telephone networks for telemedicine.

  9. Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degeneration.

    Directory of Open Access Journals (Sweden)

    Xinhua Shu

    Full Text Available A single founder mutation resulting in a Ser163Arg substitution in the C1QTNF5 gene product causes autosomal dominant late-onset retinal macular degeneration (L-ORMD in humans, which has clinical and pathological features resembling age-related macular degeneration. We generated and characterised a mouse "knock-in" model carrying the Ser163Arg mutation in the orthologous murine C1qtnf5 gene by site-directed mutagenesis and homologous recombination into mouse embryonic stem cells. Biochemical, immunological, electron microscopic, fundus autofluorescence, electroretinography and laser photocoagulation analyses were used to characterise the mouse model. Heterozygous and homozygous knock-in mice showed no significant abnormality in any of the above measures at time points up to 2 years. This result contrasts with another C1qtnf5 Ser163Arg knock-in mouse which showed most of the features of L-ORMD but differed in genetic background and targeting construct.

  10. Correlations Between Macular, Skin, and Serum Carotenoids

    Science.gov (United States)

    Conrady, Christopher D.; Bell, James P.; Besch, Brian M.; Gorusupudi, Aruna; Farnsworth, Kelliann; Ermakov, Igor; Sharifzadeh, Mohsen; Ermakova, Maia; Gellermann, Werner; Bernstein, Paul S.

    2017-01-01

    Purpose Ocular and systemic measurement and imaging of the macular carotenoids lutein and zeaxanthin have been employed extensively as potential biomarkers of AMD risk. In this study, we systematically compare dual wavelength retinal autofluorescence imaging (AFI) of macular pigment with skin resonance Raman spectroscopy (RRS) and serum carotenoid levels in a clinic-based population. Methods Eighty-eight patients were recruited from retina and general ophthalmology practices from a tertiary referral center and excluded only if they did not have all three modalities tested, had a diagnosis of macular telangiectasia (MacTel) or Stargardt disease, or had poor AFI image quality. Skin, macular, and serum carotenoid levels were measured by RRS, AFI, and HPLC, respectively. Results Skin RRS measurements and serum zeaxanthin concentrations correlated most strongly with AFI macular pigment volume under the curve (MPVUC) measurements up to 9° eccentricity relative to MPVUC or rotationally averaged macular pigment optical density (MPOD) measurements at smaller eccentricities. These measurements were reproducible and not significantly affected by cataracts. We also found that these techniques could readily identify subjects taking oral carotenoid-containing supplements. Conclusions Larger macular pigment volume AFI and skin RRS measurements are noninvasive, objective, and reliable methods to assess ocular and systemic carotenoid levels. They are an attractive alternative to psychophysical and optical methods that measure MPOD at a limited number of eccentricities. Consequently, skin RRS and MPVUC at 9° are both reasonable biomarkers of macular carotenoid status that could be readily adapted to research and clinical settings. PMID:28728169

  11. [Cinematography of ocular fundus with a jointed optical system and tv or cine-camera (author's transl)].

    Science.gov (United States)

    Kampik, A; Rapp, J

    1979-02-01

    A method of Cinematography of the ocular fundus is introduced which--by connecting a camera with an indirect ophthalmoscop--allows to record the monocular picture of the fundus as produced by the ophthalmic lens.

  12. Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex

    Institute of Scientific and Technical Information of China (English)

    Da-Yong Bai; Xu Wang; Jun-Yang Zhao; Li Li; Jun Gao; Ning-Li Wang

    2016-01-01

    Background:A sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex (TSC).The aim of the present study was to compare the color fundus photography,infrared imaging (IFG),and optical coherence tomography (OCT) in the detection rate of retinal hamartoma in patients with TSC.Methods:This study included 11 patients (22 eyes) with TSC,who underwent color fundus photography,IFG,and spectral-domain OCT to detect retinal hamartomas.TSC1 and TSC2 mutations were tested in eight patients.Results:The mean age of the 11 patients was 8.0 ± 2.1 years.The mean spherical equivalent was-0.55 ± 1.42 D by autorefraction with cycloplegia.In 11 patients (22 eyes),OCT,infrared fundus photography,and color fundus photography revealed 26,18,and 9 hamartomas,respectively.The predominant hamartoma was type I (55.6%).All the hamartomas that detected by color fundus photography or IFG can be detected by OCT.Conclusion:Among the methods of color fundus photography,IFG,and OCT,the OCT has higher detection rate for retinal hamartoma in TSC patients;therefore,OCT might be promising for the clinical diagnosis of TSC.

  13. Realization of the ergonomics design and automatic control of the fundus cameras

    Science.gov (United States)

    Zeng, Chi-liang; Xiao, Ze-xin; Deng, Shi-chao; Yu, Xin-ye

    2012-12-01

    The principles of ergonomics design in fundus cameras should be extending the agreeableness by automatic control. Firstly, a 3D positional numerical control system is designed for positioning the eye pupils of the patients who are doing fundus examinations. This system consists of a electronically controlled chin bracket for moving up and down, a lateral movement of binocular with the detector and the automatic refocusing of the edges of the eye pupils. Secondly, an auto-focusing device for the object plane of patient's fundus is designed, which collects the patient's fundus images automatically whether their eyes is ametropic or not. Finally, a moving visual target is developed for expanding the fields of the fundus images.

  14. In vivo and in vitro investigations of retinal fluorophores in age-related macular degeneration by fluorescence lifetime imaging

    Science.gov (United States)

    Hammer, M.; Quick, S.; Klemm, M.; Schenke, S.; Mata, N.; Eitner, A.; Schweitzer, D.

    2009-02-01

    Ocular fundus autofluorescence imaging has been introduced into clinical diagnostics recently for the observation of the age pigment lipofuscin, a precursor of age-related macular degeneration (AMD). However, a deeper understanding of the generation of single compounds contributing to the lipofuscin as well as of the role of other fluorophores such as FAD, glycated proteins, and collagen needs their discrimination by fluorescence lifetime imaging (FLIM). FLIM at the ocular fundus is performed using a scanning laser ophthalmoscope equipped with a picosecond laser source (448nm or 468nm respectively, 100ps, 80 MHz repetition rate) and dual wavelength (490-560nm and 560-7600nm) time-correlated single photon counting. A three-exponential fit of the fluorescence decay revealed associations of decay times to anatomical structures. Disease-related features are identified from alterations in decay times and-amplitudes. The in-vivo investigations in patients were paralleled by experiments in an organ culture of the porcine ocular fundus. Photo-oxidative stress was induced by exposure to blue light (467nm, 0.41 mW/mm2). Subsequent analysis (fluorescence microscopy, HPLC, LC-MS) indicated the accumulation of the pyridinium bis-retinoid A2E and its oxidation products as well as oxidized phospholipids. These compounds contribute to the tissue auto-fluorescence and may play a key role in the pathogenesis of AMD. Thus, FLIM observation at the ocular fundus in vivo enhances our knowledge on the etiology of AMD and may become a diagnostic tool.

  15. Fundus fluorescein angiographic findings in patients who underwent ventricular assist device implantation.

    Science.gov (United States)

    Ozturk, Taylan; Nalcaci, Serhad; Ozturk, Pelin; Engin, Cagatay; Yagdi, Tahir; Akkin, Cezmi; Ozbaran, Mustafa

    2013-09-01

    Disruption of microcirculation in various tissues as a result of deformed blood rheology due to ventricular assist device (VAD) implantation causes novel arteriovenous malformations. Capillary disturbances and related vascular leakage in the retina and choroidea may also be seen in patients supported by VADs. We aimed to evaluate retinal vasculature deteriorations after VAD implantation. The charts of 17 patients who underwent VAD implantation surgery for the treatment of end-stage heart failure were retrospectively reviewed. Eight cases (47.1%) underwent pulsatile pump implantation (Berlin Heart EXCOR, Berlin Heart Mediprodukt GmbH, Berlin, Germany); however, nine cases (52.9%) had continuous-flow pump using centrifugal design (HeartWare, HeartWare Inc., Miramar, FL, USA). Study participants were selected among the patients who had survived with a VAD for at least 6 months, and results of detailed ophthalmologic examinations including optic coherence tomography (OCT) and fundus fluorescein angiography (FA) were documented. All of the 17 patients were male, with a mean age of 48.5 ± 14.8 years (15-67 years). Detailed ophthalmologic examinations including the evaluation of retinal vascular deteriorations via FA were performed at a mean of 11.8 ± 3.7 months of follow-up (6-18 months). Mean best-corrected visual acuity and intraocular pressure were found as logMAR 0.02 ± 0.08 and 14.6 ± 1.9 mm Hg, respectively in the study population. Dilated fundoscopy revealed severe focal arteriolar narrowing in two patients (11.8%), and arteriovenous crossing changes in four patients (23.5%); however, no pathological alteration was present in macular OCT scans. In patients with continuous-flow blood pumps, mean arm-retina circulation time (ARCT) and arteriovenous transit time (AVTT) were found to be 16.8 ± 3.0 and 12.4 ± 6.2 s, respectively; whereas those with pulsatile-flow blood pumps were found to be 17.4 ± 3.6 and 14.0 ± 2.1 s in patients (P=0.526 and P=0

  16. Effect of macular hole volume on postoperative central macular thickness

    Directory of Open Access Journals (Sweden)

    Taylan Ozturk

    2016-06-01

    Full Text Available ABSTRACT Purpose: To evaluate the association between macular hole volume (MHV and postoperative central macular thickness (CMT using spectral-domain optical coherence tomography (SD-OCT. Methods: Thirty-three eyes of 30 patients with a large full-thickness idiopathic macular hole with or without vitreomacular traction who underwent surgical intervention were included in this cross-sectional study. Complete ophthalmological examination, including SD-OCT, was performed for all participants during the pre- and postoperative visits. MHV was preoperatively measured using SD-OCT, which captured the widest cross-sectional image of the hole. For normal distribution analysis of the data, the Kolmogorov-Smirnov test was performed, and for statistical analyses, chi-square, Student's t-test, Mann-Whitney U test, and Pearson's correlation coefficient test were performed. Results: Mean preoperative best-corrected visual acuity (BCVA and MHV were found to be 0.99 ± 0.36 (range, 0.3-2.0 logMAR and 0.139 ± 0.076 (range, 0.004-0.318 mm3, respectively. Mean follow-up was 16.3 ± 14.3 (range, 3-50 months. No statistical correlations were found between MHV and postoperative BCVA (p=0.588 and between MHV and disease recurrence (p=0.544. A weak negative correlation existed between MHV and final CMT scores (p=0.04, r=-0.383. Conclusions: Greater MHV was found to be weakly associated with lower postoperative CMT scores.

  17. Combined therapy for diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Saba Al Rashaed

    2013-01-01

    Full Text Available Diabetic macular edema (DME is the main cause of visual impairment in diabetic patients. Macular edema within 1 disk diameter of the fovea is present in 9% of the diabetic population. The management of DME is complex and often multiple treatment approaches are needed. This review demonstrates the benefits of intravitreal triamcinolone, bevacizumab and ranibizumab as adjunctive therapy to macular laser treatment in DME. The published results indicate that intravitreal injections of these agents may have a beneficial effect on macular thickness and visual acuity, independent of the type of macular edema that is present. Therefore, pharmacotherapy could complement focal/grid laser photocoagulation in the management of DME. For this review, we performed a literature search and summarized recent findings regarding combined therapy for DME.

  18. Subthreshold micropulse laser photocoagulation with intravitreous anti-VEGF for macular edema secondary to branch retinal vein occlusion

    Directory of Open Access Journals (Sweden)

    Yi Chen

    2017-06-01

    Full Text Available AIM:To investigate the efficacy of subthreshold micropulse 577nm laser photocoagulation with intravitreous anti-vascular endothelial growth factor(anti-VEGFtreatment for macular edema secondary to branch retinal vein occlusion(BRVO. METHODS: A retrospective case series study was sixteen patients(16 eyesof macular edema secondary to BRVO whose course was not more than 3mo were examined by fundus fluoresceine angiography(FFAand optical coherence tomography(OCT. Eight eyes were given subthreshold micropulse 577nm laser with anti-VEGF treatment(micropulse laser group. Meantime another 8 eyes were given conventional grid laser photocoagulation with anti-VEGF treatment(grid laser group. The followed up was 6mo. The best corrected visual acuity(BCVAand central foveal thickness(CFTwere analyzed.RESULTS: The baseline BCVA of the micropulse laser group was 0.34±0.18(LogMARand was improved to 0.07±0.01(PPPPP>0.05.CONCLUSION: Subthreshold micropulse 577nm laser with anti-VEGF and conventional grid laser photocoagulation with anti-VEGF had equivalent effects on the treatment of macular edema secondary to BRVO.

  19. Resistance to anti-VEGF therapy in neovascular age-related macular degeneration: a comprehensive review

    Directory of Open Access Journals (Sweden)

    Yang S

    2016-06-01

    Full Text Available Shiqi Yang,1 Jingke Zhao,1 Xiaodong Sun1–3 1Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, 2Eye Research Institute of Shanghai Jiao Tong University, 3Shanghai Key Laboratory of Fundus Disease, Shanghai, People’s Republic of China Abstract: As a progressive chronic disease, age-related macular degeneration (AMD is the leading cause of irreversible vision impairment worldwide. Experimental and clinical evidence has demonstrated that vascular endothelial growth factor (VEGF plays a vital role in the formation of choroidal neovascularization. Intravitreal injections of anti-VEGF agents have been recommended as a first-line treatment for neovascular AMD. However, persistent fluid or recurrent exudation still occurs despite standardized anti-VEGF therapy. Patients suffering from refractory or recurrent neovascular AMD may develop mechanisms of resistance to anti-VEGF therapy, which results in a diminished therapeutic effect. Until now, there has been no consensus on the definitions of refractory neovascular AMD and recurrent neovascular AMD. This article aims at clarifying these concepts to evaluate the efficacy of switching drugs, which contributes to making clinical decision more scientifically. Furthermore, insight into the causes of resistance to anti-VEGF therapy would be helpful for developing possible therapeutic approaches, such as combination therapy and multi-target treatment that can overcome this resistance. Keywords: age-related macular degeneration, vascular endothelial growth factor, choroidal neovascularization, resistance

  20. Delayed, spontaneous conversion of type 2 closure to type 1 closure following surgery for traumatic macular hole associated with submacular hemorrhage

    Directory of Open Access Journals (Sweden)

    Pukhraj Rishi

    2012-01-01

    Full Text Available A 45-year-old man presented with diminution of vision in the left eye following a firecracker injury. Best corrected visual acuity (BCVA was 20/20 in the right eye and 20/125 in the left eye. Fundus examination revealed vitreous hemorrhage, a macular hole, and submacular hemorrhage in the left eye. The patient underwent vitrectomy, tissue plasminogen activator (tPA-assisted evacuation of the submacular hemorrhage, internal limiting membrane (ILM peeling, and 14% C3F8 gas insufflation. After two months, the BCVA remained 20/125 and optical coherence tomography (OCT showed type 2 macular hole closure. On a follow-up, seven months after surgery, BCVA improved to 20/80, N6, with type 1 closure of the macular hole. The clinical findings were confirmed on OCT. Delayed and spontaneous conversion of the traumatic macular hole could occur several months after the primary surgery and may be associated with improved visual outcome. Larger studies are required to better understand the factors implicated in such a phenomenon.

  1. [Systemic cardiovascular risk assessment. Conventional or eye fundus-based?].

    Science.gov (United States)

    Wolf, A; Kernt, M; Kampik, A; Neubauer, A S

    2010-09-01

    Several systemic cardiovascular (CV) risk assessment algorithms exist, of which the ESC HeartScore, Framingham and PROCAM are the most frequently applied in Germany. The risk estimates generated differ and take a number of different risk factors into consideration. Due to existing homology of retinal vessels and brain vessels, eye fundus examination is a promising approach to improving risk prediction. Large cohort studies investigated retinal vascular changes, including arteriovenous ratio, as well as signs of retinopathy such as cotton-wool spots, microaneurysms, or retinal hemorrhages for their ability to predict systemic cardiovascular events. While signs of retinopathy proved to have high predictive power (but are rarely diagnosed,) the retinal vascular changes investigated could contribute little to enhancing systemic CV risk prediction. A number of new and promising approaches based on static and dynamic retinal analysis exist, but still need to be validated prospectively.

  2. Does Fundus Fluorescein Angiography Procedure Affect Ocular Pulse Amplitude?

    Directory of Open Access Journals (Sweden)

    Gökhan Pekel

    2013-01-01

    Full Text Available Purpose. This study examines the effects of fundus fluorescein angiography (FFA procedure on ocular pulse amplitude (OPA and intraocular pressure (IOP. Materials and Methods. Sixty eyes of 30 nonproliferative diabetic retinopathy patients (15 males, 15 females were included in this cross-sectional case series. IOP and OPA were measured with the Pascal dynamic contour tonometer before and after 5 minutes of intravenous fluorescein dye injection. Results. Pre-FFA mean OPA value was  mmHg and post-FFA mean OPA value was  mmHg (. Pre-FFA mean IOP value was  mmHg and post-FFA mean IOP value was  mmHg (. Conclusion. Although both mean OPA and IOP values were decreased after FFA procedure, the difference was not statistically significant. This clinical trial is registered with Australian New Zealand Clinical Trials Registry number ACTRN12613000433707.

  3. Edema macular diabético Diabetic macular edema

    Directory of Open Access Journals (Sweden)

    J. Andonegui

    2008-01-01

    Full Text Available El edema macular diabético representa la primera causa de pérdida visual en los pacientes con diabetes mellitus. Su complejidad, unida a la aparición de nuevos métodos de diagnóstico así como de novedosas alternativas de tratamiento, hace que el enfoque de esta enfermedad suponga un importante reto para el oftalmólogo. A lo largo de este artículo se describen su patofisiología, manifestaciones clínicas, clasificación, diagnóstico y tratamiento, haciendo especial énfasis en los nuevos métodos diagnósticos y en las diferentes opciones terapéuticas.Diabetic macular edema is the principal cause of visual loss in patients with diabetes mellitus. Its complexity, together with the appearance of new methods of diagnosis and new alternatives for treatment, mean that the approach to this disease is an important challenge for ophthalmologists. This article describes its pathophysiology, clinical manifestations, classification, diagnosis and treatment, with special emphasis on the new diagnostic methods and on the different therapeutic options.

  4. [Muscular Dystrophies Involving the Retinal Function].

    Science.gov (United States)

    Jägle, H

    2016-03-01

    Muscular dystrophies are rare disorders, with an incidence of approx. 20 in 100 000. Some dystrophies also affect retinal or optic nerve function. In such cases, the ophthalmological findings may be critical for differential diagnosis or patient counseling. For example in Duchenne muscular dystrophy, where the alteration in retinal function seems to reflect cerebral involvement. Other important forms are mitochondrial and metabolic disorders, such as the Kearns-Sayre syndrome and the Refsum syndrome. Molecular genetic analysis has become a major tool for differential diagnosis, but may be complex and demanding. This article gives an overview of major muscular dystrophies involving retinal function and their genetic origin, in order to guide differential diagnosis.

  5. Anesthesia for a Patient with Myotonic Dystrophy

    Directory of Open Access Journals (Sweden)

    Dilek Kalaycı

    2016-09-01

    Full Text Available Myotonic dystrophy is the most common myotonic syndrome causing abnormalities of the skeletal and smooth muscles as well as problems related to the cardiac, gastrointestinal and endocrine systems. In affected people, reduced functional residual capacity, vital capacity, and peak inspiratory pressure are observed within the respiratory system. As would be expected, anesthetic management of these patients is challenging for anesthesiologists. In addition, delayed recovery from anesthesia and cardiac and pulmonary complications may develop in the intraoperative and early postoperative periods due to sensitivity to sedatives, anesthetic agents, and neuromuscular blocking agents. Myotonic dystrophy can be performed with the use of appropriate anesthesia procedures as well as carefully communication between anesthesiologists and surgeons. In conclusion, myotonic dystrophy has variations, which makes it important to preoperatively determine specific surgical and anesthetic management strategies for each patient. In this article, we present a patient with myotonic dystrophy who underwent laparoscopic cholecystectomy surgery for symptomatic cholelithiasis and to discuss the relevant literature.

  6. Duchenne muscular dystrophy - a molecular service

    African Journals Online (AJOL)

    Duchenne muscular dystrophy using molecular technology was instituted at the ..... utilising non-fat dry milk for analysis of proteins and nucleic acids transferred ... acid to high specific activity in vitro by nick translation with DNA polymerase.

  7. Non-Coding RNAs in Muscle Dystrophies

    Directory of Open Access Journals (Sweden)

    Alessandra Ferlini

    2013-09-01

    Full Text Available ncRNAs are the most recently identified class of regulatory RNAs with vital functions in gene expression regulation and cell development. Among the variety of roles they play, their involvement in human diseases has opened new avenues of research towards the discovery and development of novel therapeutic approaches. Important data come from the field of hereditary muscle dystrophies, like Duchenne muscle dystrophy and Myotonic dystrophies, rare diseases affecting 1 in 7000–15,000 newborns and is characterized by severe to mild muscle weakness associated with cardiac involvement. Novel therapeutic approaches are now ongoing for these diseases, also based on splicing modulation. In this review we provide an overview about ncRNAs and their behavior in muscular dystrophy and explore their links with diagnosis, prognosis and treatments, highlighting the role of regulatory RNAs in these pathologies.

  8. Prevalence of generalized retinal dystrophy in Denmark

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Jensen, Hanne; Bregnhøj, Jesper F;

    2014-01-01

    of this study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in the Danish population. METHODS: A population-based cross-sectional study with data from the Danish Retinitis Pigmentosa Registry that comprises all patients in Denmark with generalized retinal....... RESULTS: Of the 5,602,628 Danish citizens on January 1, 2013, 1622 patients were registered as having a generalized retinal dystrophy and were alive and living in Denmark, corresponding to a prevalence of 1:3,454. In 28% of cases the eye condition was part of a syndrome, while the remaining 72% had eye...... disease only. Aside from simplex cases (45%), the most common hereditary pattern was autosomal recessive (23%). CONCLUSION: This epidemiological survey demonstrates that the prevalence of generalized retinal dystrophy in the Danish population is 1:3454. Many of the dystrophies are the subjects of clinical...

  9. Targeting latent TGFβ release in muscular dystrophy.

    Science.gov (United States)

    Ceco, Ermelinda; Bogdanovich, Sasha; Gardner, Brandon; Miller, Tamari; DeJesus, Adam; Earley, Judy U; Hadhazy, Michele; Smith, Lucas R; Barton, Elisabeth R; Molkentin, Jeffery D; McNally, Elizabeth M

    2014-10-22

    Latent transforming growth factor-β (TGFβ) binding proteins (LTBPs) bind to inactive TGFβ in the extracellular matrix. In mice, muscular dystrophy symptoms are intensified by a genetic polymorphism that changes the hinge region of LTBP, leading to increased proteolytic susceptibility and TGFβ release. We have found that the hinge region of human LTBP4 was also readily proteolysed and that proteolysis could be blocked by an antibody to the hinge region. Transgenic mice were generated to carry a bacterial artificial chromosome encoding the human LTBP4 gene. These transgenic mice displayed larger myofibers, increased damage after muscle injury, and enhanced TGFβ signaling. In the mdx mouse model of Duchenne muscular dystrophy, the human LTBP4 transgene exacerbated muscular dystrophy symptoms and resulted in weaker muscles with an increased inflammatory infiltrate and greater LTBP4 cleavage in vivo. Blocking LTBP4 cleavage may be a therapeutic strategy to reduce TGFβ release and activity and decrease inflammation and muscle damage in muscular dystrophy.

  10. Ventilatory support in facioscapulohumeral muscular dystrophy.

    NARCIS (Netherlands)

    Wohlgemuth, M.; Kooi, E.L. van der; Kesteren, R.G. van; Maarel, S.M. van der; Padberg, G.W.A.M.

    2004-01-01

    Respiratory insufficiency due to respiratory muscle weakness is a common complication of many neuromuscular diseases. The prevalence of respiratory failure in facioscapulohumeral muscular dystrophy (FSHD) is unknown. The authors identified 10 FSHD patients on nocturnal ventilatory support at home,

  11. Brain MRI Findings in Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-03-01

    Full Text Available Brain magnetic resonance imaging (MRI findings in 13 patients with congenital muscular dystrophy (MDCIC and Fukutin-related protein (FKRP gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.

  12. INTRAVITREAL TRIAMCINOLONE IN DIABETIC MACULAR EDEMA : A COMPARATIVE STUDY OF 1 MG AND 4MG DOSES

    Directory of Open Access Journals (Sweden)

    Sikander A . K

    2015-06-01

    Full Text Available Macular edema is a frequent manifestation of diabetic retinopathy and animportant cause of visual disturbance in diabetic patients. AIM: To compare the efficacy and safety of 1mg and 4mg intravitreal triamcinolone acetonide (IVTA in the management of diabetic macular edema. SETTING: Sarojini Devi Eye Hospital, Hyderabad. MATERIAL AND METHODS: 42 eyes of 42 patients with diabetic macular edema were randomly assigned torecei ve either 1 - mg or 4 - mg dose of Intravitreal triamcinolone acetonide (IVTA. Each patient underwent a complete comprehensive eye examination at baseline andat each visit.Fundus fluorescein angiography and optical coherence angiographywas done at baseline an d at 1, 3 and 6 months.BCVA, lens status, IOP wererecorded at each follow up visit. Each patient’s BCVA was measured in snellen’s lines and converted into logarithm of minimum angle of resolution (log MAR scale for analysis. STATISTICAL ANALYSIS USED : The data were statistically evaluated using the Wilcoxon signedrank test, Mann - Whitney test and t tests wherever applicable. A p value of lessthan . 05 was considered significant. RESULTS: There was no statistically significant difference in the mean foveal thickness measurement at baseline (p=.723 or at 3 rd month (p=.878 between the sub - groups. BCVA significantly improved from baseline to subsequent visits in both the groups, but there was no statistically significant difference observed in the mean baseli ne BCVA between the two sub - groups (p=.754. There was no statistically significant difference observed in IOP between the two sub - groups at any follow up visit. CONCLUSIONS: The results of our study suggest that 1 - mg dose of IVTA is as effective as 4 - mgdo se of IVTA in improving the functional and anatomical outcome in macularedema associated with diabetic retinopathy.

  13. Individualized Treatment of Neovascular Age-Related Macular Degeneration: What are Patients Gaining? Or Losing?

    Directory of Open Access Journals (Sweden)

    Michael W. Stewart

    2015-05-01

    Full Text Available The widespread use of drugs that bind diffusible vascular endothelial growth factor (VEGF has revolutionized the treatment of neovascular age-related macular degeneration (AMD. The pivotal ranibizumab and aflibercept registration trials featured monthly intravitreal injections for 12 months, during which visual acuities and macular edema rapidly improved for the first 3 months and modest gains or stabilization continued until the primary endpoint. In many subsequent trials, patients were evaluated monthly and treated as-needed (PRN according to the results of visual acuity (VA testing, fundus examinations and optical coherence tomography scans. Compared to monthly-treated control groups, PRN treated patients require fewer injections during the first year but they also experience smaller VA gains (1–3 letters. A small number of prospective trials that directly compared monthly with PRN therapy showed that VA gains with discontinuous therapy lag slightly behind those achieved with monthly injections. Physicians recognize that monthly office visits with frequent intraocular injections challenge patients’ compliance, accrue high drug and professional service costs, and clog office schedules with frequently returning patients. To decrease the numbers of both office visits and anti-VEGF injections without sacrificing VA gains, physicians have embraced the treat-and-extend strategy. Treat-and-extend has not been studied as rigorously as PRN but it has become popular among both vitreoretinal specialists and patients. Despite the possible risks associated with discontinuous therapy (decreased VA and increased macular fluid, most physicians individualize treatment (PRN or treat-and-extend for the majority of their patients. This review chapter explores the many advantages of individualized therapy, while balancing these against suboptimal responses due to the decreased frequency of anti-VEGF injections.

  14. Intravitreal ranibizumab for macular edema secondary to central retinal vein occlusion.

    Science.gov (United States)

    Risard, Sarah M; Pieramici, Dante J; Rabena, Melvin D; Basefsky, Jessica C; Avery, Robert L; Castellarin, Alessandro A; Nasir, Ma'an A; See, Robert F; Couvillion, Stephen S

    2011-06-01

    To evaluate the safety and efficacy of intravitreal ranibizumab for macular edema secondary to central retinal vein occlusion. Patients with macular edema secondary to perfused central retinal vein occlusion were enrolled in this ongoing, prospective, open-label study. Treatment was initiated with monthly intravitreal ranibizumab for 3 months. In the first year, additional injections were administered for edema in quarterly intervals as needed (PRN) for Cohort 1 (n = 10) and monthly PRN for Cohort 2 (n = 10). In the second year of treatments, all patients received monthly PRN treatment. Early Treatment Diabetic Retinopathy Study best-corrected visual acuity, central retinal thickness, fundus photographs, and fluorescein angiograms were evaluated, and the incidence and severity of adverse events were documented. Mean change in best-corrected visual acuity and central retinal thickness improved during the induction phase in both groups. During the remainder of the first year for Cohort 1, initial gains were lost during quarterly treatment but returned with monthly PRN treatment in the second year. For Cohort 2, improvement in best-corrected visual acuity and central retinal thickness from the induction phase was maintained through Month 24. Nineteen of 20 patients experienced a reduction in intraretinal hemorrhage, optic nerve swelling, and/or venous diameter after treatment. One myocardial infarction, one cerebrovascular accident, and no serious ocular adverse events were reported. Iris neovascularization was developed in none of the eyes. Ranibizumab was well tolerated and associated with a greater reduction in macular edema and improvement in visual acuity in the monthly PRN regimen compared with quarterly treatment. Vision lost during the quarterly PRN injection intervals in the first year of Cohort 1 could be regained by switching to monthly PRN dosing.

  15. Update on treatments of diabetic macular edema

    Institute of Scientific and Technical Information of China (English)

    YANG Xiao-lu; LIU Kun; XU Xun

    2009-01-01

    Objective To review the update research progress about the treatment of diabetic macular edema and to give helpful guidelines in the treatment of diabetic macular edema based on available evidence to date.Data sources A literature search of all English articles was performed on the online electronic PubMed database dated 1984 to 2009. The keywords searched included: macular edema, therapy, laser coagulation, intravitreal triamcinolone acetonide, vascular endothelial growth factor inhibitor, protein kinase C inhibitor and Pars plana vitrectomy. After finding relevant articles within these search limits, a manual search was conducted through the references from these articles.Study selection Original articles and critical reviews were reviewed and selected to address the stated purpose.Results To date, demonstrated means to reduce the risk of vision loss from diabetic macular edema include focal/grid laser photocoagulation and improved metabolic control. Emerging pharmacologic therapies (intravitreal triamcinolone acetonide, vascular endothelial growth factor inhibitors and protein kinase C beta-isoform inhibitors) and Pars plana vitrectomy have shown early promise in the treatment of diabetic macular edema.Conclusions As there has been extensive development in multiple treatments of diabetic macular edema, choice of the most suitable treatment for specific patients becomes important. Combination therapy of laser, pharmacological and surgical treatment modalities may offer an alternative to treatment of diabetic macular edema.

  16. The limb-girdle muscular dystrophies.

    Science.gov (United States)

    Wicklund, Matthew P; Kissel, John T

    2014-08-01

    A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.

  17. Duchenne muscular dystrophy: the management of scoliosis

    Science.gov (United States)

    Gardner, Adrian C.; Roper, Helen P.; Chikermane, Ashish A.; Tatman, Andrew J.

    2016-01-01

    This study summaries the current management of scoliosis in patients with Duchenne Muscular Dystrophy. A literature review of Medline was performed and the collected articles critically appraised. This literature is discussed to give an overview of the current management of scoliosis within Duchenne Muscular Dystrophy. Importantly, improvements in respiratory care, the use of steroids and improving surgical techniques have allowed patients to maintain quality of life and improved life expectancy in this patient group.

  18. Local resolved spectroscopy at the human ocular fundus in vivo: technique and clinical examples

    Science.gov (United States)

    Hammer, Martin; Schweitzer, Dietrich; Scibor, Mateusz

    1996-01-01

    Ocular fundus reflectometry is known as a method for the determination of the optical density of pigments at the eye ground. This has been described for diagnostic investigations at single locations. The new technique of imaging spectroscopy enables the recording of one dimensional local distribution of spectra from the fundus which is illuminated confocal to the entrance slit of a spectrograph. A fundus reflectometer consisting of a Zeiss fundus camera, an imaging spectrograph, and an intensified CCD-camera are presented. The local resolved spectra gained by this apparatus are approximated by a mathematical model on the basis of the anatomy of the fundus as a structure of layers with different optical properties. Each spectrum is assumed to be described by a function of the absorption spectra of the pigments found in the retinal and choroidal tissue. Assuming the existence of parameters which are independent from the fundus location we have to approximate the measured local distribution of spectra by a system of coupled non-linear equations. By a least square fit the local distribution of the extinction of melanin, xantophyll and hemoglobin may be obtained as well as the extension of pathologic alterations at the fundus. The benefits of the method for clinical diagnostics are discussed at first measurements from physiological and pathological examples.

  19. The utility of using customized heterochromatic flicker photometry (cHFP) to measure macular pigment in patients with age-related macular degeneration.

    Science.gov (United States)

    Stringham, J M; Hammond, B R; Nolan, J M; Wooten, B R; Mammen, A; Smollon, W; Snodderly, D M

    2008-11-01

    The purpose of this study was to assess the utility and validity of using customized heterochromatic flicker photometry (cHFP) to measure macular pigment optical density (MPOD) in patients with intermediate stages of age-related macular degeneration (AMD). The measurement procedure was optimized to accommodate individual differences in temporal vision related to age, disease, or other factors. The validity criteria were based on the similarity of the spectral absorption curves to ex vivo curves of lutein and zeaxanthin and the similarity of spatial density profiles to those measured in subjects without retinal disease. Macular pigment optical density (MPOD) spatial profiles were measured with an LED-based macular densitometer; spectral absorption curves were measured with a 3-channel Maxwellian view system including a monochromator. All patients were characterized via clinical exams and all but 2 subjects from whom data were obtained had masked grading of color fundus photographs using the Wisconsin Age-Related Maculopathy Grading System. Most of the patients were in AREDS category 2 (27%) or 3 (57%). Patients with visual acuity as poor as 20/80 were included, and could perform the task as long as they could see the stimulus. Eighty-one percent of the patients screened were able to perform the cHFP task, and data were obtained from 30 AMD patients. Spatial profiles of MPOD were measured in 19 subjects who could see the stimulus at all tested loci. These profiles were highly similar to those that have been measured with HFP in subjects without retinal disease. The average shape of the spectral absorption curves for the AMD subjects corresponded well to an ex vivo template. These data support both the utility and validity of the cHFP method for measuring MPOD in subjects with intermediate stages of AMD. The ability to measure the retinal response to nutritional intervention is of practical importance for monitoring patients being supplemented with lutein and

  20. Subthreshold diode-laser micropulse photocoagulation as a primary and secondary line of treatment in management of diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Othman IS

    2014-03-01

    Full Text Available Ihab Saad Othman,1 Sherif Ahmed Eissa,1 Mohamed S Kotb,1 Sherin Hassan Sadek21Cairo University, Cairo, 2Fayoum University, Al Fayoum, EgyptBackground: The purpose of this study was to evaluate subthreshold diode-laser micropulse (SDM photocoagulation as a primary and secondary line of treatment for clinically significant diabetic macular edema (CSDME.Methods: In this prospective nonrandomized case series, 220 cases of nonischemic CSDME were managed primarily and secondarily by SDM photocoagulation on a 15% duty cycle with a mean power of 828 mW and a spot size of 75–125 µm. SDM treatment was repeated at 3–4-month intervals if residual leakage was observed. Additional intravitreal pharmacologic therapy was used according to the response. Follow-up varied from 12 to 19 (mean 14±2.8 months. Novel software designed by the authors was used to record the subvisible threshold laser applications and their parameters on the fundus image of the eye. Evaluation of the results of treatment was done using fluorescein angiography and optical coherence tomography (OCT. Primary outcome measures included changes in visual acuity and foveal thickness at OCT. Secondary outcome measures included visual loss of one or more Snellen lines and laser scars detectable on fundus biomicroscopy or fluorescein angiography.Results: In the primary treatment group, there was significant improvement or stabilization of visual acuity after the first 3–4 months, which was stable thereafter. Visual acuity was stable in the secondary treatment group. A corresponding reduction of macular thickness on OCT was noted during the follow-up period in both groups. Additional therapy included repeat SDM photocoagulation, intravitreal injection of triamcinolone, and pars plana vitrectomy. Laser marks seen as changes in retinal pigment epithelium on fundus biomicroscopy and fluorescein angiography were noted in 3.3% and 5.7% of cases. Our novel software could accurately record the

  1. Cardiac involvement in myotonic dystrophy

    DEFF Research Database (Denmark)

    Lund, Marie; Diaz, Lars Jorge; Ranthe, Mattis Flyvholm

    2014-01-01

    disorders, arrhythmias, and device implantation). In the DM cohort, SIR for any cardiac disease was 3.42 [95% confidence interval (CI) 3.01-3.86]; for a cardiac disease belonging to the selected subgroups 6.91 (95% CI: 5.93-8.01) and for other cardiac disease 2.59 (95% CI: 2.03-3.25). For a cardiac disease......AIMS: To quantify the association between myotonic dystrophy (DM) and cardiac disease in a nationwide cohort. METHODS AND RESULTS: We identified a nationwide cohort of 1146 DM patients (period 1977-2011) using the National Patient Registry (NPR) and a subcohort of 485 patients who had undergone...... genetic testing for DM1. Information on incident cardiac diseases was obtained from the NPR. We estimated standardized incidence ratios (SIRs) of cardiac disease compared with the background population, overall and according to selected diagnostic subgroups (cardiomyopathy, heart failure, conduction...

  2. Cystoid macular edema after bone marrow transplantation

    Directory of Open Access Journals (Sweden)

    Khetan Vikas

    2009-01-01

    Full Text Available We report a case of cystoid macular edema in a patient who underwent bone marrow transplant for aplastic anemia. After having ruled out all the other causes of cystoid macular edema, we concluded that it was secondary to the bone marrow transplant. The patient had mild visual impairment and did not recover the lost vision. In this case report, we describe in detail the clinical presentation, follow-up, and course of medication that this patient had. It is an illustrated case report of cystoid macular edema after bone marrow transplant with mild visual impairment and no recovery.

  3. Consistency of ocular coherence tomography fast macular thickness mapping in diabetic diffuse macular edema

    Energy Technology Data Exchange (ETDEWEB)

    Saraiva, Fabio Petersen; Costa, Patricia Grativol; Inomata, Daniela Lumi; Melo, Carlos Sergio Nascimento; Helal Junior, John; Nakashima, Yoshitaka [Universidade de Sao Paulo (USP), SP (Brazil). Hospital das Clinicas. Dept. de Oftalmologia]. E-mail: fabiopetersen@yahoo.com.br

    2007-07-01

    Objectives: To investigate optical coherence tomography consistency on foveal thickness, foveal volume, and macular volume measurements in patients with and without diffuse diabetic macular edema. Introduction: Optical coherence tomography represents an objective technique that provides cross-sectional tomographs of retinal structure in vivo. However, it is expected that poor fixation ability, as seen in diabetic macular edema, could alter its results. Several authors have discussed the reproducibility of optical coherence tomography, but only a few have addressed the topic with respect to diabetic maculopathy. Methods: The study recruited diabetic patients without clinically evident retinopathy (control group) and with diffuse macular edema (case group). Only one eye of each patient was evaluated. Five consecutive fast macular scans were taken using Ocular Coherence Tomography 3; the 6 mm macular map was chosen. The consistency in measurements of foveal thickness, foveal volume, and total macular volume for both groups was evaluated using the Pearson's coefficient of variation. The T-test for independent samples was used in order to compare measurements of both groups. Results: Each group consisted of 20 patients. All measurements had a coefficient of variation less than 10%. The most consistent parameter for both groups was the total macular volume. Discussion: Consistency in measurement is a mainstay of any test. A test is unreliable if its measurements can not be correctly repeated. We found a good index of consistency, even considering patients with an unstable gaze. Conclusions: Optical coherence tomography is a consistent method for diabetic subjects with diffuse macular edema. (author)

  4. Porcine models of muscular dystrophy.

    Science.gov (United States)

    Selsby, Joshua T; Ross, Jason W; Nonneman, Dan; Hollinger, Katrin

    2015-01-01

    Duchenne muscular dystrophy is a progressive, fatal, X-linked disease caused by a failure to accumulate the cytoskeletal protein dystrophin. This disease has been studied using a variety of animal models including fish, mice, rats, and dogs. While these models have contributed substantially to our mechanistic understanding of the disease and disease progression, limitations inherent to each model have slowed the clinical advancement of therapies, which necessitates the development of novel large-animal models. Several porcine dystrophin-deficient models have been identified, although disease severity may be so severe as to limit their potential contributions to the field. We have recently identified and completed the initial characterization of a natural porcine model of dystrophin insufficiency. Muscles from these animals display characteristic focal necrosis concomitant with decreased abundance and localization of dystrophin-glycoprotein complex components. These pigs recapitulate many of the cardinal features of muscular dystrophy, have elevated serum creatine kinase activity, and preliminarily appear to display altered locomotion. They also suffer from sudden death preceded by EKG abnormalities. Pig dystrophinopathy models could allow refinement of dosing strategies in human-sized animals in preparation for clinical trials. From an animal handling perspective, these pigs can generally be treated normally, with the understanding that acute stress can lead to sudden death. In summary, the ability to create genetically modified pig models and the serendipitous discovery of genetic disease in the swine industry has resulted in the emergence of new animal tools to facilitate the critical objective of improving the quality and length of life for boys afflicted with such a devastating disease.

  5. Cardiac involvement in myotonic dystrophy

    Directory of Open Access Journals (Sweden)

    Koroush Khalighi

    2015-02-01

    Full Text Available Background: Myotonic dystrophy (DM is an inherited progressive muscle disorder caused by defects in muscle proteins. As the incidence of this condition is low, not many are familiar with the multisystem involvement. At times, cardiac disease may even be the predominant manifestation in the form of arrhythmias, conduction defects, and cardiomyopathies. The progression of the disease can lead to sudden, unpredictable death. Thus, it is important to identify this subgroup and treat accordingly. Objective: To identify patients with DM and assess their risk for sudden cardiac death. Methods: Nine patients previously diagnosed with muscular dystrophy were evaluated by cardiologists for various reasons, from a general follow-up to cardiac arrest. All of them had electrocardiograms (EKG and 2-D echocardiograms, and seven of them had further electrophysiological (EP studies. Results: Of the nine patients with DM, eight had EKG evidence of conduction abnormalities ranging from first-degree heart block to complete heart block. Of the seven who had EP studies, five had inducible ventricular tachycardia requiring immediate cardioversion and implantable cardioverter defibrillator (ICD implant. Two of them underwent permanent pacemaker placement due to complete heart block and infra-Hissian block. The remaining two patients opted for a conservative approach with yearly EKG monitoring. Conclusion: Because one-third of the cardiac deaths in patients with DM are sudden, there is a strong need to identify these patients and intervene in those at high risk. Prophylactic pacemaker placement is recommended even in those with minimal conduction system abnormality. However, the common practice is to identify patients at high risk of conduction abnormalities by EP studies and then provide them with prophylactic invasive strategies.

  6. Pearl necklace sign in diabetic macular edema: Evaluation and significance

    Directory of Open Access Journals (Sweden)

    Kshirasagar Ajay

    2016-01-01

    Full Text Available Purpose: (1 The purpose of this study was to describe significance and prevalence of the newly reported pearl necklace spectral domain optical coherence tomography (SDOCT sign, in diabetic macular edema (DMO, (2 to track the course of this sign over a period of at least 10 months. Materials and Methods: The pearl necklace SDOCT sign refers to hyperreflective dots in a contiguous ring around the inner wall of cystoid spaces in the retina, recently described for the first time in 21 eyes with chronic exudative maculopathy. A retrospective analysis was performed of SDOCT images of all patients presenting to the DMO referral clinic of a tertiary eye care center, over a period of 24 months. Images of patients displaying this sign were sequentially analyzed for at least 10 months to track the course of the sign. Results: Thirty-five eyes of 267 patients (13.1% were found to display the pearl necklace sign. Twenty-eight eyes responded to intravitreal ranibizumab treatment with resolution of edema. In 21 eyes, the dots coalesced to form a clump, visible in the infrared fundus photograph as hard exudates; in seven eyes, dots disappeared without leaving visible exudates. In three eyes, the sign was seen in subfoveal cystoid spaces, with subsequent development of hard exudates, and drop in visual acuity of 20 letters or more. Conclusion: Pearl necklace SDOCT sign is not infrequent in DMO. This sign is a precursor to hard exudates in the majority of cases. If this sign is seen subfoveally, drop in visual acuity can be expected, despite treatment.

  7. Is there a correlation between structural alterations and retinal sensitivity in morphological patterns of diabetic macular edema?

    Directory of Open Access Journals (Sweden)

    Abhishek R Kothari

    2013-01-01

    Full Text Available Spectral domain optical coherence tomography (SDOCT enables enhanced visualization of retinal layers and delineation of structural alterations in diabetic macular edema (DME. Microperimetry (MP is a new technique that allows fundus-related testing of local retinal sensitivity. Combination of these two techniques would enable a structure-function correlation with insights into pathomechanism of vision loss in DME. To correlate retinal structural derangement with retinal sensitivity alterations in cases with diabetic macular edema, using SDOCT and MP. Prospective study of 34 eyes of 30 patients with DME. All patients underwent comprehensive ophthalmic examination, fluorescein angiography, microperimetry and SDOCT. Four distinct morphological patterns of DME were identified- diffuse retinal thickening (DRT, cystoid macular edema (CME, schitic retinal thickening (SRT and neourosensory detachment (NSD of fovea. Some retinal loci presented with a mixture of above patterns There was significant difference in retinal thickness between groups (P<0.001. Focal retinal sensitivity measurement revealed relatively preserved retinal sensitivity in areas with DRT (13.8 dB, moderately reduced sensitivity (7.9 dB in areas with CME, and gross retinal sensitivity loss in areas with SRT (1.2 dB and NSD (4.7 dB (P<0.001. Analysis of regional scotoma depth demonstrated similar pattern. Retinal sensitivity showed better correlation to OCT pattern (r=-0.68, P<0.001 than retinal thickness (r=-0.44, P<0.001. Structure-function correlation allows better understanding of the pathophysiology of visual loss in different morphological types of DME. Classification of macular edema into these categories has implications on the prognosis and predictive value of treatment.

  8. FDA OKs 1st Drug to Treat Duchenne Muscular Dystrophy

    Science.gov (United States)

    ... html FDA OKs 1st Drug to Treat Duchenne Muscular Dystrophy Exondys 51 seems to fill unmet need ... the first drug for a rare form of muscular dystrophy. Exondys 51 (eteplirsen) was granted accelerated approval ...

  9. What Is Age-Related Macular Degeneration?

    Science.gov (United States)

    ... Qué es la degeneración macular relacionada con la edad? Find an Ophthalmologist Advanced Search Ask an Ophthalmologist ... Privacy Policy Terms of Service For Advertisers For Media Ophthalmology Job Center © American Academy of Ophthalmology 2017 ...

  10. Combination Therapy for Diabetic Macular Edema

    Directory of Open Access Journals (Sweden)

    Dinah Zur

    2012-01-01

    Full Text Available Diabetic macular edema is a main reason for visual loss in diabetic patients. Until recent years, macular laser photocoagulation was the only available therapy. The awareness that inflammation is an important factor in the pathogenetic process of DME gave reason for intravitreal treatment with corticosteroids. The introduction of anti-VEGF drugs brought a revolutionary change in the treatment of DME. This paper will review the important clinical trials with an emphasis on combination therapies.

  11. Identification and localization of fovea on colour fundus images using blur scales.

    Science.gov (United States)

    Ganesan, Karthikeyan; Acharya, Rajendra U; Chua, Chua Kuang; Laude, Augustinus

    2014-09-01

    Identification of retinal landmarks is an important step in the extraction of anomalies in retinal fundus images. In the current study, we propose a technique to identify and localize the position of macula and hence the fovea avascular zone, in colour fundus images. The proposed method, based on varying blur scales in images, is independent of the location of other anatomical landmarks present in the fundus images. Experimental results have been provided using the open database MESSIDOR by validating our segmented regions using the dice coefficient, with ground truth segmentation provided by a human expert. Apart from testing the images on the entire MESSIDOR database, the proposed technique was also validated using 50 normal and 50 diabetic retinopathy chosen digital fundus images from the same database. A maximum overlap accuracy of 89.6%-93.8% and locational accuracy of 94.7%-98.9% was obtained for identification and localization of the fovea.

  12. Simple, inexpensive technique for high-quality smartphone fundus photography in human and animal eyes

    National Research Council Canada - National Science Library

    Haddock, Luis J; Kim, David Y; Mukai, Shizuo

    2013-01-01

    Purpose. We describe in detail a relatively simple technique of fundus photography in human and rabbit eyes using a smartphone, an inexpensive app for the smartphone, and instruments that are readily...

  13. Simple, Inexpensive Technique for High-Quality Smartphone Fundus Photography in Human and Animal Eyes

    National Research Council Canada - National Science Library

    Haddock, Luis J; Kim, David Y; Mukai, Shizuo

    2013-01-01

    Purpose. We describe in detail a relatively simple technique of fundus photography in human and rabbit eyes using a smartphone, an inexpensive app for the smartphone, and instruments that are readily...

  14. Normal color variations of the canine ocular fundus, a retrospective study in Swedish dogs

    National Research Council Canada - National Science Library

    Granar, Marie I K S; Nilsson, Bo R; Hamberg-Nyström, Helene L

    2011-01-01

    A retrospective study was made to demonstrate normal variations of the color and size of the tapetal area and color of the nontapetal area in the ocular fundus in dogs, correlating them to breed, age and coat color...

  15. Age-related macular degeneration

    DEFF Research Database (Denmark)

    la Cour, Morten; Kiilgaard, Jens Folke; Nissen, Mogens Holst

    2002-01-01

    (exudative cases); the remainder has only geographic atrophy. In cross-sectional population-based studies about 45% of eyes with AMD have visual acuity reduced to 20/200 or worse. This is true both for exudative AMD and pure geographic atrophy. Age and genetic predisposition are known risk factors for AMD...... a fluorescein angiographic study and a physician capable of interpreting it. For CNV not involving the foveal centre, the only evidence-based treatment is laser photocoagulation. For AMD cases with subfoveal CNV, good visual acuity, and predominantly classic fluorescence pattern on fluorescein angiography....... Smoking is probably also a risk factor. Preventive strategies using macular laser photocoagulation are under investigation, but their efficacy in preventing visual loss is as yet unproven. There is no treatment with proven efficacy for geographic atrophy. Optimal treatment for exudative AMD requires...

  16. Multimodal retinal vessel segmentation from spectral-domain optical coherence tomography and fundus photography.

    Science.gov (United States)

    Hu, Zhihong; Niemeijer, Meindert; Abràmoff, Michael D; Garvin, Mona K

    2012-10-01

    Segmenting retinal vessels in optic nerve head (ONH) centered spectral-domain optical coherence tomography (SD-OCT) volumes is particularly challenging due to the projected neural canal opening (NCO) and relatively low visibility in the ONH center. Color fundus photographs provide a relatively high vessel contrast in the region inside the NCO, but have not been previously used to aid the SD-OCT vessel segmentation process. Thus, in this paper, we present two approaches for the segmentation of retinal vessels in SD-OCT volumes that each take advantage of complimentary information from fundus photographs. In the first approach (referred to as the registered-fundus vessel segmentation approach), vessels are first segmented on the fundus photograph directly (using a k-NN pixel classifier) and this vessel segmentation result is mapped to the SD-OCT volume through the registration of the fundus photograph to the SD-OCT volume. In the second approach (referred to as the multimodal vessel segmentation approach), after fundus-to-SD-OCT registration, vessels are simultaneously segmented with a k -NN classifier using features from both modalities. Three-dimensional structural information from the intraretinal layers and neural canal opening obtained through graph-theoretic segmentation approaches of the SD-OCT volume are used in combination with Gaussian filter banks and Gabor wavelets to generate the features. The approach is trained on 15 and tested on 19 randomly chosen independent image pairs of SD-OCT volumes and fundus images from 34 subjects with glaucoma. Based on a receiver operating characteristic (ROC) curve analysis, the present registered-fundus and multimodal vessel segmentation approaches [area under the curve (AUC) of 0.85 and 0.89, respectively] both perform significantly better than the two previous OCT-based approaches (AUC of 0.78 and 0.83, p < 0.05). The multimodal approach overall performs significantly better than the other three approaches (p < 0.05).

  17. A novel image recuperation approach for diagnosing and ranking retinopathy disease level using diabetic fundus image.

    Science.gov (United States)

    Krishnamoorthy, Somasundaram; Alli, P

    2015-01-01

    Retinal fundus images are widely used in diagnosing and providing treatment for several eye diseases. Prior works using retinal fundus images detected the presence of exudation with the aid of publicly available dataset using extensive segmentation process. Though it was proved to be computationally efficient, it failed to create a diabetic retinopathy feature selection system for transparently diagnosing the disease state. Also the diagnosis of diseases did not employ machine learning methods to categorize candidate fundus images into true positive and true negative ratio. Several candidate fundus images did not include more detailed feature selection technique for diabetic retinopathy. To apply machine learning methods and classify the candidate fundus images on the basis of sliding window a method called, Diabetic Fundus Image Recuperation (DFIR) is designed in this paper. The initial phase of DFIR method select the feature of optic cup in digital retinal fundus images based on Sliding Window Approach. With this, the disease state for diabetic retinopathy is assessed. The feature selection in DFIR method uses collection of sliding windows to obtain the features based on the histogram value. The histogram based feature selection with the aid of Group Sparsity Non-overlapping function provides more detailed information of features. Using Support Vector Model in the second phase, the DFIR method based on Spiral Basis Function effectively ranks the diabetic retinopathy diseases. The ranking of disease level for each candidate set provides a much promising result for developing practically automated diabetic retinopathy diagnosis system. Experimental work on digital fundus images using the DFIR method performs research on the factors such as sensitivity, specificity rate, ranking efficiency and feature selection time.

  18. Spectral Domain Optical Coherence Tomographic Findings of Bietti Crystalline Dystrophy

    Directory of Open Access Journals (Sweden)

    Ali Osman Saatci

    2014-01-01

    Full Text Available We analyzed the OCT features of 24 eyes of 12 patients with Bietti crystalline dystrophy (BCD with the Heidelberg HRA2-OCT. Seventeen of 24 eyes were in intermediate stage of the disease and seven in advanced stage of the disease at the time of latest OCT examination performed in 2014. Outer retinal tubulations and retinal hyperreflective dots were present in 20 of 24 eyes. The remaining four eyes had advanced disease with very thin retina. Appearance of bright plaque on top of RPE-Bruch membrane was present in all eyes. Choroidal hyperreflective spots were noted in 19 of 24 eyes. The remaining five eyes had advanced disease stage with very thin choroid. Mean central macular thickness was 163.08 μm ± 62.52 for all eyes (170.35 μm ± 56.46 in eyes with intermediate disease and 145.42 μm ± 77.2 in eyes with advanced disease. Mean subfoveal choroidal thickness was 95.37 μm ± 55.93 for the study eyes (116.47 ± 46.92 μm in eyes with intermediate disease and 44.14 μm ± 42.43 in eyes with advanced disease. Choroidal hyperreflective spots were noted in 21 of 24 eyes (87.5%. SD-OCT shows the disease progression in retinal and choroidal layers delicately in eyes with BCD and expands our knowledge about the ongoing disease process.

  19. Spectral domain optical coherence tomographic findings of bietti crystalline dystrophy.

    Science.gov (United States)

    Saatci, Ali Osman; Doruk, Hasan Can; Yaman, Aylin; Oner, Ferit Hakan

    2014-01-01

    We analyzed the OCT features of 24 eyes of 12 patients with Bietti crystalline dystrophy (BCD) with the Heidelberg HRA2-OCT. Seventeen of 24 eyes were in intermediate stage of the disease and seven in advanced stage of the disease at the time of latest OCT examination performed in 2014. Outer retinal tubulations and retinal hyperreflective dots were present in 20 of 24 eyes. The remaining four eyes had advanced disease with very thin retina. Appearance of bright plaque on top of RPE-Bruch membrane was present in all eyes. Choroidal hyperreflective spots were noted in 19 of 24 eyes. The remaining five eyes had advanced disease stage with very thin choroid. Mean central macular thickness was 163.08 μm ± 62.52 for all eyes (170.35 μm ± 56.46 in eyes with intermediate disease and 145.42 μm ± 77.2 in eyes with advanced disease). Mean subfoveal choroidal thickness was 95.37 μm ± 55.93 for the study eyes (116.47 ± 46.92 μm in eyes with intermediate disease and 44.14 μm ± 42.43 in eyes with advanced disease). Choroidal hyperreflective spots were noted in 21 of 24 eyes (87.5%). SD-OCT shows the disease progression in retinal and choroidal layers delicately in eyes with BCD and expands our knowledge about the ongoing disease process.

  20. Techniques of Glaucoma Detection From Color Fundus Images: A Review

    Directory of Open Access Journals (Sweden)

    Malaya Kumar Nath

    2012-09-01

    Full Text Available Glaucoma is a generic name for a group of diseases which causes progressive optic neuropathy and vision loss due to degeneration of the optic nerves. Optic nerve cells act as transducer and convert light signal entered into the eye to electrical signal for visual processing in the brain. The main risk factors of glaucoma are elevated intraocular pressure exerted by aqueous humour, family history of glaucoma (hereditary and diabetes. It causes damages to the eye, whether intraocular pressure is high, normal or below normal. It causes the peripheral vision loss. There are different types of glaucoma. Some glaucoma occurs suddenly. So, detection of glaucoma is essential for minimizing the vision loss. Increased cup area to disc area ratio is the significant change during glaucoma. Diagnosis of glaucoma is based on measurement of intraocular pressure by tonometry, visual field examination by perimetry and measurement of cup area to disc area ratio from the color fundus images. In this paper the different signal processing techniques are discussed for detection and classification of glaucoma.

  1. Macular morphology and visual acuity after macular hole surgery with or without internal limiting membrane peeling

    DEFF Research Database (Denmark)

    Christensen, U.C.; Kroyer, K.; Sander, B.

    2010-01-01

    Aim: To examine postoperative macular morphology and visual outcome after 12 months in relation to internal limiting membrane (ILM) peeling versus no peeling, indocyanine green (ICG) staining and re-operation in eyes that achieved macular hole closure after surgery. Methods: Seventy-four eyes wit...

  2. A Portable, Inexpensive, Nonmydriatic Fundus Camera Based on the Raspberry Pi® Computer

    Directory of Open Access Journals (Sweden)

    Bailey Y. Shen

    2017-01-01

    Full Text Available Purpose. Nonmydriatic fundus cameras allow retinal photography without pharmacologic dilation of the pupil. However, currently available nonmydriatic fundus cameras are bulky, not portable, and expensive. Taking advantage of recent advances in mobile technology, we sought to create a nonmydriatic fundus camera that was affordable and could be carried in a white coat pocket. Methods. We built a point-and-shoot prototype camera using a Raspberry Pi computer, an infrared-sensitive camera board, a dual infrared and white light light-emitting diode, a battery, a 5-inch touchscreen liquid crystal display, and a disposable 20-diopter condensing lens. Our prototype camera was based on indirect ophthalmoscopy with both infrared and white lights. Results. The prototype camera measured 133mm×91mm×45mm and weighed 386 grams. The total cost of the components, including the disposable lens, was $185.20. The camera was able to obtain good-quality fundus images without pharmacologic dilation of the pupils. Conclusion. A fully functional, inexpensive, handheld, nonmydriatic fundus camera can be easily assembled from a relatively small number of components. With modest improvements, such a camera could be useful for a variety of healthcare professionals, particularly those who work in settings where a traditional table-mounted nonmydriatic fundus camera would be inconvenient.

  3. A Portable, Inexpensive, Nonmydriatic Fundus Camera Based on the Raspberry Pi® Computer

    Science.gov (United States)

    Shen, Bailey Y.

    2017-01-01

    Purpose. Nonmydriatic fundus cameras allow retinal photography without pharmacologic dilation of the pupil. However, currently available nonmydriatic fundus cameras are bulky, not portable, and expensive. Taking advantage of recent advances in mobile technology, we sought to create a nonmydriatic fundus camera that was affordable and could be carried in a white coat pocket. Methods. We built a point-and-shoot prototype camera using a Raspberry Pi computer, an infrared-sensitive camera board, a dual infrared and white light light-emitting diode, a battery, a 5-inch touchscreen liquid crystal display, and a disposable 20-diopter condensing lens. Our prototype camera was based on indirect ophthalmoscopy with both infrared and white lights. Results. The prototype camera measured 133mm × 91mm × 45mm and weighed 386 grams. The total cost of the components, including the disposable lens, was $185.20. The camera was able to obtain good-quality fundus images without pharmacologic dilation of the pupils. Conclusion. A fully functional, inexpensive, handheld, nonmydriatic fundus camera can be easily assembled from a relatively small number of components. With modest improvements, such a camera could be useful for a variety of healthcare professionals, particularly those who work in settings where a traditional table-mounted nonmydriatic fundus camera would be inconvenient.

  4. A Portable, Inexpensive, Nonmydriatic Fundus Camera Based on the Raspberry Pi® Computer.

    Science.gov (United States)

    Shen, Bailey Y; Mukai, Shizuo

    2017-01-01

    Purpose. Nonmydriatic fundus cameras allow retinal photography without pharmacologic dilation of the pupil. However, currently available nonmydriatic fundus cameras are bulky, not portable, and expensive. Taking advantage of recent advances in mobile technology, we sought to create a nonmydriatic fundus camera that was affordable and could be carried in a white coat pocket. Methods. We built a point-and-shoot prototype camera using a Raspberry Pi computer, an infrared-sensitive camera board, a dual infrared and white light light-emitting diode, a battery, a 5-inch touchscreen liquid crystal display, and a disposable 20-diopter condensing lens. Our prototype camera was based on indirect ophthalmoscopy with both infrared and white lights. Results. The prototype camera measured 133mm × 91mm × 45mm and weighed 386 grams. The total cost of the components, including the disposable lens, was $185.20. The camera was able to obtain good-quality fundus images without pharmacologic dilation of the pupils. Conclusion. A fully functional, inexpensive, handheld, nonmydriatic fundus camera can be easily assembled from a relatively small number of components. With modest improvements, such a camera could be useful for a variety of healthcare professionals, particularly those who work in settings where a traditional table-mounted nonmydriatic fundus camera would be inconvenient.

  5. The results of diagnostic and treatment of patients with diabetic retinopathy and age-related macular degeneration at a diabetes type 2.

    Directory of Open Access Journals (Sweden)

    I. V. Vorobyova

    2014-01-01

    Full Text Available Purpose: Explore the changing clinical and functional and morphological changes of the retina against application of angiogenesis inhibitor in patients with diabetes type 2 with comorbidity fundus: diabetic retinopathy (DR and agerelated macular degeneration (AMD.Patients and Methods. In the main study group included 22 patients (22 eyes with type 2 diabetes with combined fundus pathology DR and AMD. All patients before and after intravitreal injection of an angiogenesis inhibitor ranibizumab (Lucentis, Novartis was assessed visual acuity, macular thickness and macular morphology based on the results of OCT, the retinal sensitivity according to the data of microperimetry (MAIA. The control group study included 30 people (15 healthy and 15 with type 2 diabetes without DR.Results. When comparing the main group with the control group was revealed that visual acuity in the main group (0,27±0,05 was significantly lower than in the control group (0,8±0,01, p <0.05; retinal thickness was significantly higher in the control group, and the retinal sensitivity was significantly lower. On the background of intravitreal injection of ranibizumab all patients with DR and AMD had significantly increase in visual acuity on average by 37 % (from 0,27±0,05 before treatment to 0,37±0,05 after treatment, a significantly reduction of macular thickness in 9 out of 9 areas, including the fovea centralis, an average of 32.6 % and increase retinal sensitivity by 24 % (from 11,75±1,68 (dB to 14,58±1,68 (dB, (p <0.05. The correlations were found between visual acuity and retinal thickness, as well as between visual acuity and retinal sensitivity of the macula, before treatment r = –0,26, p <0.01 and r = 0,7 p <0.01, respectively, after treatment with r = –0,14, p <0.01 and r = 0,64, p <0.01, respectively. Conclusions. Intravitreal injection of angiogenesis inhibitor ranibizumab to patients with comorbidity fundus DR and AMD on a background of

  6. The results of diagnostic and treatment of patients with diabetic retinopathy and age-related macular degeneration at a diabetes type 2.

    Directory of Open Access Journals (Sweden)

    I. V. Vorobyova

    2014-10-01

    Full Text Available Purpose: Explore the changing clinical and functional and morphological changes of the retina against application of angiogenesis inhibitor in patients with diabetes type 2 with comorbidity fundus: diabetic retinopathy (DR and agerelated macular degeneration (AMD.Patients and Methods. In the main study group included 22 patients (22 eyes with type 2 diabetes with combined fundus pathology DR and AMD. All patients before and after intravitreal injection of an angiogenesis inhibitor ranibizumab (Lucentis, Novartis was assessed visual acuity, macular thickness and macular morphology based on the results of OCT, the retinal sensitivity according to the data of microperimetry (MAIA. The control group study included 30 people (15 healthy and 15 with type 2 diabetes without DR.Results. When comparing the main group with the control group was revealed that visual acuity in the main group (0,27±0,05 was significantly lower than in the control group (0,8±0,01, p <0.05; retinal thickness was significantly higher in the control group, and the retinal sensitivity was significantly lower. On the background of intravitreal injection of ranibizumab all patients with DR and AMD had significantly increase in visual acuity on average by 37 % (from 0,27±0,05 before treatment to 0,37±0,05 after treatment, a significantly reduction of macular thickness in 9 out of 9 areas, including the fovea centralis, an average of 32.6 % and increase retinal sensitivity by 24 % (from 11,75±1,68 (dB to 14,58±1,68 (dB, (p <0.05. The correlations were found between visual acuity and retinal thickness, as well as between visual acuity and retinal sensitivity of the macula, before treatment r = –0,26, p <0.01 and r = 0,7 p <0.01, respectively, after treatment with r = –0,14, p <0.01 and r = 0,64, p <0.01, respectively. Conclusions. Intravitreal injection of angiogenesis inhibitor ranibizumab to patients with comorbidity fundus DR and AMD on a background of

  7. Long-Term Follow-Up of the Postoperative Macular Fold following the Vitreoretinal Surgery with Air Tamponade

    Directory of Open Access Journals (Sweden)

    Ali Osman Saatci

    2013-01-01

    Full Text Available A 64-year-old male who had a macula-on superior bullous retinal detachment in OD underwent scleral buckling, 20-gauge-pars plana vitrectomy, internal drainage of subretinal fluid with perfluorocarbon fluid, 360° endolaser and perflourocarbon-fluid-air exchange surgery. Patient sat upright immediately after the surgery for the night. At the first postoperative morning although the retina was attached, there was a macular fold extending toward the temporal retinal periphery. Patient denied further surgery. During the follow-up, retinal fold gradually became less visible and it could be noticeable only by fundus autoflorescence imaging at the sixth postoperative year with a subtle epiretinal membrane formation on the optical coherence tomographic section.

  8. Quantitative analysis of cone photoreceptor distribution and its relationship with axial length, age, and early age-related macular degeneration.

    Directory of Open Access Journals (Sweden)

    Ryo Obata

    Full Text Available PURPOSE: It has not been clarified whether early age-related macular degeneration (AMD is associated with cone photoreceptor distribution. We used adaptive optics fundus camera to examine cone photoreceptors in the macular area of aged patients and quantitatively analyzed its relationship between the presence of early AMD and cone distribution. METHODS: Sixty cases aged 50 or older were studied. The eyes were examined with funduscopy and spectral-domain optical coherence tomography to exclude the eyes with any abnormalities at two sites of measurement, 2° superior and 5° temporal to the fovea. High-resolution retinal images with cone photoreceptor mosaic were obtained with adaptive optics fundus camera (rtx1, Imagine Eyes, France. After adjusting for axial length, cone packing density was calculated and the relationship with age, axial length, or severity of early AMD based on the age-related eye disease study (AREDS classification was analyzed. RESULTS: Patient's age ranged from 50 to 77, and axial length from 21.7 to 27.5 mm. Mean density in metric units and that in angular units were 24,900 cells/mm2, 2,170 cells/deg2 at 2° superior, and 18,500 cells/mm2, 1,570 cels/deg2 at 5° temporal, respectively. Axial length was significantly correlated with the density calculated in metric units, but not with that in angular units. Age was significantly correlated with the density both in metric and angular units at 2° superior. There was no significant difference in the density in metric and angular units between the eyes with AREDS category one and those with categories two or three. CONCLUSION: Axial length and age were significantly correlated with parafoveal cone photoreceptor distribution. The results do not support that early AMD might influence cone photoreceptor density in the area without drusen or pigment abnormalities.

  9. [Congenital muscular dystrophies in children].

    Science.gov (United States)

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  10. Duchenne muscular dystrophy and epilepsy.

    Science.gov (United States)

    Pane, M; Messina, S; Bruno, C; D'Amico, A; Villanova, M; Brancalion, B; Sivo, S; Bianco, F; Striano, P; Battaglia, D; Lettori, D; Vita, G L; Bertini, E; Gualandi, F; Ricotti, V; Ferlini, A; Mercuri, E

    2013-04-01

    Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8). Seizures were more often focal epilepsy (n=6), generalized tonic-clonic seizures (n=4) or absences (n=4). They were present in 12 of the 149 boys with normal IQ (8.1%) and in two of the 73 with mental retardation (2.7%). In two cases the parents did not report any past or present history of seizures but only 'staring episodes' interpreted as a sign of 'poor attention'. In both patients EEG showed the typical pattern observed in childhood absence epilepsy. Our results suggest that the prevalence of epilepsy in our study (6.3%) is higher than in the general pediatric population (0.5-1%). The risk of epilepsy does not appear to increase in patients with mental retardation.

  11. Therapeutics in duchenne muscular dystrophy.

    Science.gov (United States)

    Strober, Jonathan B

    2006-04-01

    Duchenne muscular dystrophy (DMD) is a fatal disorder affecting approximately 1 in 3,500 live born males, characterized by progressive muscle weakness. Several different strategies are being investigated in developing a cure for this disorder. Until a cure is found, therapeutic and supportive care is essential in preventing complications and improving the afflicted child's quality of life. Currently, corticosteroids are the only class of drug that has been extensively studied in this condition, with controversy existing over the use of these drugs, especially in light of the multiple side effects that may occur. The use of nutritional supplements has expanded in recent years as researchers improve our abilities to use gene and stem cell therapies, which will hopefully lead to a cure soon. This article discusses the importance of therapeutic interventions in children with DMD, the current debate over the use of corticosteroids to treat this disease, the growing use of natural supplements as a new means of treating these boys and provides an update on the current state of gene and stem cell therapies.

  12. Circulating Biomarkers for Duchenne Muscular Dystrophy

    Science.gov (United States)

    Aartsma-Rus, Annemieke; Spitali, Pietro

    2015-01-01

    Abstract Duchenne muscular dystrophy is the most common form of muscular dystrophy. Genetic and biochemical research over the years has characterized the cause, pathophysiology and development of the disease providing several potential therapeutic targets and/or biomarkers. High throughput – omic technologies have provided a comprehensive understanding of the changes occurring in dystrophic muscles. Murine and canine animal models have been a valuable source to profile muscles and body fluids, thus providing candidate biomarkers that can be evaluated in patients. This review will illustrate known circulating biomarkers that could track disease progression and response to therapy in patients affected by Duchenne muscular dystrophy. We present an overview of the transcriptomic, proteomic, metabolomics and lipidomic biomarkers described in literature. We show how studies in muscle tissue have led to the identification of serum and urine biomarkers and we highlight the importance of evaluating biomarkers as possible surrogate endpoints to facilitate regulatory processes for new medicinal products. PMID:27858763

  13. Median nail dystrophy involving the thumb nail

    Directory of Open Access Journals (Sweden)

    Rahulkrishna Kota

    2016-01-01

    Full Text Available Median canaliform dystrophy of Heller is a rare entity characterized by a midline or a paramedian ridge or split and canal formation in nail plate of one or both the thumb nails. It is an acquired condition resulting from a temporary defect in the matrix that interferes with nail formation. Habitual picking of the nail base may be responsible for some cases. Histopathology classically shows parakeratosis, accumulation of melanin within and between the nail bed keratinocytes. Treatment of median nail dystrophy includes injectable triamcinalone acetonide, topical 0.1% tacrolimus, and tazarotene 0.05%, which is many a times challenging for a dermatologist. Psychiatric opinion should be taken when associated with the depressive, obsessive-compulsive, or impulse-control disorder. We report a case of 19-year-old male diagnosed as median nail dystrophy.

  14. Weight reduction in boys with muscular dystrophy.

    Science.gov (United States)

    Edwards, R H; Round, J M; Jackson, M J; Griffiths, R D; Lilburn, M F

    1984-06-01

    Many children with muscular dystrophy are overweight, and although weight control is pursued in some centres it is unusual to encourage severe dietary restriction for fear that it might lead to accelerated loss of muscle. In this study, two overweight boys with muscular dystrophy were monitored by whole-body nitrogen balance, total body potassium, strength and functional measurements during calorie restriction. Both patients were found to have a transient loss of nitrogen on commencing the low calorie intake: thereafter, weight loss was not found to have any deleterious effect on muscle bulk or function in either patient. It is suggested that controlled weight-reduction in obese children with muscular dystrophy is a safe and practical way of losing excess fat, which can improve mobility and self-esteem, and may possibly effect longevity.

  15. Corneal stromal dystrophies: a clinical pathologic study Distrofia corneana estromal: um estudo clínicopatológico

    Directory of Open Access Journals (Sweden)

    Elvira Barbosa Abreu

    2012-12-01

    Full Text Available INTRODUCTION: Corneal dystrophy is defined as bilateral and symmetric primary corneal disease, without previous associated ocular inflammation. Corneal dystrophies are classified according to the involved corneal layer in superficial, stromal, and posterior dystrophy. Incidence of each dystrophy varies according to the geographic region studied. PURPOSE: To evaluate the prevalence of stromal corneal dystrophies among corneal buttons specimens obtained by penetrating keratoplasty (PK in an ocular pathology laboratory and to correlate the diagnosis with patient age and gender. METHODS: Corneal button cases of penetrating keratoplasty from January-1996 to May-2009 were retrieved from the archives of The Henry C. Witelson Ophthalmic Pathology Laboratory and Registry, Montreal, Canada. The cases with histopathological diagnosis of stromal corneal dystrophies were stained with special stains (Peroxid acid Schiff, Masson trichrome, Congo red analyzed under polarized light, and alcian blue for classification and correlated with epidemiological information (age at time of PK and gender from patients' file. RESULTS: 1,300 corneal buttons cases with clinical diagnose of corneal dystrophy were retrieved. Stromal corneal dystrophy was found in 40 (3.1% cases. Lattice corneal dystrophy was the most prevalent with 26 cases (65%. Nineteen were female (73.07% and the PK was performed at average age of 59.3 years old. Combined corneal dystrophy was found in 8 (20% cases, 5 (62.5% of them were female and the average age of the penetrating keratoplasty was 54.8 years old. Granular corneal dystrophy was represented by 5 (12.5% cases, and 2 (40% of them were female. Penetrating keratoplasty was performed at average age of 39.5 years old in granular corneal dystrophy cases. Macular corneal dystrophy was present in only 1 (2.5% case, in a 36 years old female. CONCLUSION: Systematic histopathological approach and evaluation, including special stains in all stromal

  16. Advances in gene therapy for muscular dystrophies.

    Science.gov (United States)

    Abdul-Razak, Hayder; Malerba, Alberto; Dickson, George

    2016-01-01

    Duchenne muscular dystrophy (DMD) is a recessive lethal inherited muscular dystrophy caused by mutations in the gene encoding dystrophin, a protein required for muscle fibre integrity. So far, many approaches have been tested from the traditional gene addition to newer advanced approaches based on manipulation of the cellular machinery either at the gene transcription, mRNA processing or translation levels. Unfortunately, despite all these efforts, no efficient treatments for DMD are currently available. In this review, we highlight the most advanced therapeutic strategies under investigation as potential DMD treatments.

  17. The Use of Microperimetry to Detect Functional Progression in Non-Neovascular Age-Related Macular Degeneration: A Systematic Review.

    Science.gov (United States)

    Wong, Evan N; Chew, Avenell L; Morgan, William H; Patel, Praveen J; Chen, Fred K

    2017-01-01

    We reviewed the current literature on the ability of microperimetry to detect non-neovascular age-related macular degeneration (AMD) disease progression. The index test was retinal sensitivity measurement assessed by microperimetry and comparators were other functional measures (best-corrected and low-luminance visual acuities, and fixation stability) and structural parameters [retinal thickness, choroidal thickness, and area of geographic atrophy (GA) determined by color fundus photographs, short-wave or near-infrared fundus autofluorescence]. The reference standard was area of GA. The literature search was conducted in January 2016 and included MEDLINE, EMBASE, the Cochrane Library, Biosis, Science Citation Index, ProQuest Health and Medicine, CINAHL, and Highwire Press. We included 6 studies that enrolled 41 eyes with intermediate AMD (from a single study) and 80 eyes with GA secondary to AMD. Retinal sensitivity measured by microperimetry was the only functional measure that consistently detected progression in each cohort. Insufficient reported data precluded meta-analysis. Various microperimetry parameters were used to assess cohort-level change in retinal sensitivity, but the methods of analysis have yet to mature in complexity in comparison with established glaucoma field progression analysis. Microperimetry-assessed retinal sensitivity measurement may be more sensitive in detecting progression than other functional measures in non-neovascular AMD. However, the lack of standardized testing protocol and methods of progression analysis hindered comparison. Harmonization of testing protocol and development of more robust methods of analyzing raw microperimetric data will facilitate clinical implementation of this valuable retinal assessment tool.

  18. Fundus Photography in the 21st Century--A Review of Recent Technological Advances and Their Implications for Worldwide Healthcare.

    Science.gov (United States)

    Panwar, Nishtha; Huang, Philemon; Lee, Jiaying; Keane, Pearse A; Chuan, Tjin Swee; Richhariya, Ashutosh; Teoh, Stephen; Lim, Tock Han; Agrawal, Rupesh

    2016-03-01

    The introduction of fundus photography has impacted retinal imaging and retinal screening programs significantly. Fundus cameras play a vital role in addressing the cause of preventive blindness. More attention is being turned to developing countries, where infrastructure and access to healthcare are limited. One of the major limitations for tele-ophthalmology is restricted access to the office-based fundus camera. Recent advances in access to telecommunications coupled with introduction of portable cameras and smartphone-based fundus imaging systems have resulted in an exponential surge in available technologies for portable fundus photography. Retinal cameras in the near future would have to cater to these needs by featuring a low-cost, portable design with automated controls and digitalized images with Web-based transfer. In this review, we aim to highlight the advances of fundus photography for retinal screening as well as discuss the advantages, disadvantages, and implications of the various technologies that are currently available.

  19. Macular edema in uveitis with emphasis on ocular sarcoidosis

    NARCIS (Netherlands)

    Norel, J. van

    2015-01-01

    This thesis investigates the accumulation of fluid in the yellow spot (macular edema) in ocular inflammation (uveitis). Macular edema may result in definitive loss of vision.Two methods of imaging of macular edema are fluorescein angiography (FA) and optical coherence tomography (OCT). The first met

  20. Management of macular epiretinal membrane by vitrectomy and intravitreal triamcinolone

    Directory of Open Access Journals (Sweden)

    Dhananjay Shukla

    2014-01-01

    Full Text Available A patient underwent successful vitrectomy for macular epiretinal membrane with anatomical and functional improvement. 10 weeks later, there was a recurrence of macular edema with corresponding visual decline. An intravitreal injection of triamcinolone acetonide not only restored the macular anatomy but also improved the visual outcome beyond that achieved after surgery.

  1. Macular edema in uveitis with emphasis on ocular sarcoidosis

    NARCIS (Netherlands)

    Norel, J. van

    2015-01-01

    This thesis investigates the accumulation of fluid in the yellow spot (macular edema) in ocular inflammation (uveitis). Macular edema may result in definitive loss of vision.Two methods of imaging of macular edema are fluorescein angiography (FA) and optical coherence tomography (OCT). The first met

  2. τ mapping of the autofluorescence of the human ocular fundus

    Science.gov (United States)

    Schweitzer, Dietrich; Kolb, Achim; Hammer, Martin; Thamm, Eike

    2000-12-01

    Changes in the autofluorescence at the living eye-ground are assumed as important mark in discovering of the pathomechanism in age-related macular degeneration. The discrimination of fluorophores is required and also the presentation of their 2D distribution. Caused by transmission of ocular media, a differentiation between fluorophores by the spectral excitation and emission range is limited. Using the laser scanner principle, the fluorescence lifetime can be measured in 2D. Keeping the maximal permissible exposure, only a very weak signal is detectable, which is optimal for application of the time- correlated single photon counting (TCSPC). In an experimental set-up, pulses of an active model locked Ar+ laser (FWHM = 300 ps, reptition rate = 77.3 MHz, selectable wavelengths: 457.9, 465.8, 472.7, 496.5, 501.7, 514.5 nm)excite the eye-ground during the scanning process. A routing module realizes the synchronization between scanning and TCSPC. Investigation of structured samples of Rhodamin 6G and of Coumarin 522 showed that a mono-exponential decay can be calculated with an error of less than 10 percent using only a few hundred photons. The maximum likelihood algorithm delivers the most correct results. A first in vivo tau-image, exhibit a lifetime of 1.5 ns in the nasal part and 5 ns at large retinal vessels.

  3. Laparoscopic resection of submucosal tumor on posterior wall of gastric fundus

    Institute of Scientific and Technical Information of China (English)

    Zhong-Wei Ke; Cheng-Zhu Zheng; Ming-Gen Hu; Dan-Lei Chen

    2004-01-01

    AIM: Laparoscopic resection of tumors on the posterior wall of gastric fundus, especially when they are next to the esophagocardiac junction (ECJ), is both difficult and timeconsuming. Furthermore, it can lead to inadvertent esophagus stenosis and injury to the spleen. In order to overcome these difficulties, laparoscopically extraluminal resection of gastric fundus was designed to manage submucosal tumors located on the posterior wall of gastric fundus and next to ECJ.METHODS: From January 2001 to September 2003,laparoscopically extraluminal resection of gastric fundus was successfully carried out on 15 patients. There were11 males and 4 females with an average age of 58 years(range, 38 to 78 years). The mean diameter of the tumors was 4.8 cm. The distance of the tumor border from ECJ was about 1.5-2.5 cm. The four-portal operation procedures were as follows: localization of the tumor, dissection of the omentum, mobilization of the gastric fundus and the upper polar of spleen, exposure of ECJ, and resection of the gastric fundus with Endo GIA.RESULTS: The laparoscopic operation time averaged(66.2±10.4) min, the average amount of bleeding was(89.4±21.7) mL. The mean post-operative hospital stay was (5.3±1.1) d. Within 36 h post-operation, 73.3% of all the patients recovered their gastrointestinal function and began to eat something and to walk. In all the operations,no apparent tumor focus was left and no complication or conversion to open surgery occurred.CONCLUSION: Our newly designed procedure,laparoscopically extraluminal resection of the gastric fundus, can avoid contamination of the abdominal cavity,injury to the spleen and esophageal stenosis. The procedure seems to be both safe and effective.

  4. Fixation Improvement through Biofeedback Rehabilitation in Stargardt Disease

    OpenAIRE

    Scuderi, G.; Verboschi, F.; Domanico, D.; Spadea, L.

    2016-01-01

    Stargardt disease is the most common hereditary macular degeneration in juveniles. It is characterized by macular dystrophy associated with loss of central vision in the first or second decade of life, a “beaten-metal” appearance in the fovea or parafoveal region, yellowish flecks around the macula or in posterior area of the retina, progressive atrophy of the bilateral foveal retinal pigment epithelium, and the “dark choroid” sign on fundus fluorescein angiography in most cases. We report a ...

  5. Surgical treatment of lamellar macular holes.

    Science.gov (United States)

    Michalewska, Zofia; Michalewski, Janusz; Odrobina, Dominik; Pikulski, Zbigniew; Cisiecki, Sławomir; Dziegielewski, Krzysztof; Nawrocki, Jerzy

    2010-10-01

    The aim of this study is to present functional and anatomical results of pars plana vitrectomy without gas tamponade in lamellar macular holes. Additionally, the study determines factors influencing final outcome. Twenty-six eyes of 26 patients with lamellar macular hole were diagnosed using spectral domain optical coherence tomography (SD-OCT). The diameters of the lamellar defects were measured. Pars plana vitrectomy with epiretinal membrane (ERM) removal and internal limiting membrane (ILM) peeling without endotamponade followed. Follow-up examinations were conducted with SD-OCT for a period of 12 months after surgery. The following factors were examined: maximum and minimum diameter of the lamellar defect, maximum diameter of the disruption of the photoreceptors, representing the photoreceptor layer, central macular thickness, paracentral macular thickness 1000 microm from the centre of the fovea, and maximum paracentral retinal thickness. Retina thickness was measured manually from the inner retina surface to the upper line of retinal pigment epithelium. Prior to surgery, mean visual acuity was 0.2. Twelve months after surgery, the mean visual acuity was 0.51. Lower visual acuity was observed in patients with photoreceptor layer defects localized under the fovea. Epiretinal membranes and complete or partial posterior hyaloid detachment were observed in all cases. The size of the lamellar defect had no influence on final visual acuity. The results obtained show that intraocular gas tamponade is not a crucial step in achieving closure and visual improvement in lamellar macular holes.

  6. Intravitreal triamcinolone for diffuse diabetic macular oedema.

    LENUS (Irish Health Repository)

    Gibran, S K

    2012-02-03

    AIM: To evaluate the efficacy of intravitreal triamcinolone (IVTA) for the treatment of diffuse diabetic macular oedema (DME) refractory to conventional argon macular laser therapy. METHODS: A prospective, consecutive, and noncomparative case series was undertaken involving 38 eyes of 38 patients with refractory DME. Triamcinolone acetonide (4 mg) in 0.1 ml was injected intravitreally. LogMar visual acuity (VA) and macular thickness measured by ocular coherence tomography (OCT) were assessed preoperatively and postoperatively at 1, 3, and 6 months. RESULTS: All patients completed 6 months of follow up. VA (mean+\\/-SD) improved from 0.905+\\/-0.23 to 0.605+\\/-0.28, 0.555+\\/-0.29, and 0.730+\\/-0.30 at 1, 3, and 6 months, respectively. Macular thickness baseline (mean+\\/-SD) on OCT was 418.7+\\/-104.2 microm and this decreased to 276.9+\\/-72.6 microm, 250.6+\\/-53.1 microm, and 308.8+\\/-87.3 microm at 1, 3, and 6 months, respectively. CONCLUSIONS: IVTA may be a potential temporary treatment for refractory DME. It is effective in decreasing macular thickness and improving VA but the effect lasts approximately for 6 months in the majority of patients. Further investigations are required to establish the safety of IVTA for the treatment of DME.

  7. Corticosteroid Treatment in Diabetic Macular Edema

    Directory of Open Access Journals (Sweden)

    Burcu Nurözler Tabakcı

    2017-06-01

    Full Text Available Diabetic macular edema is the most common cause of visual impairment in patients with diabetes mellitus. The pathogenesis of macular edema is complex and multifactorial. For many years, laser photocoagulation has been considered the standard therapy for the treatment of diabetic macular edema; however, few patients achieve significant improvements in visual acuity. Today the intravitreal administration of anti-inflammatory or anti-angiogenic agents together with the use of laser photocoagulation represents the standard of care for the treatment of this complication. The intravitreal route of administration minimizes the systemic side effects of corticosteroids. Steroid-related ocular side effects are elevated intraocular pressure and cataract, while injection-related complications include endophthalmitis, vitreous hemorrhage, and retinal detachment. In order to reduce the risks and complications, intravitreal implants have been developed recently to provide sustained release of corticosteroids and reduce repeated injections for the management of diabetic macular edema. In this review, the efficacy, safety, and therapeutic potential of intravitreal corticosteroids in diabetic macular edema are discussed with a review of recent literature.

  8. [Sighting dominance in patients with macular disease].

    Science.gov (United States)

    Akaza, Eriko; Fujita, Kyoko; Shimada, Hiroyuki; Yuzawa, Mitsuko

    2007-04-01

    To study sighting dominance by comparing macular disease patients undergoing surgical treatment with controls. We studied visual acuity and sighting dominance in 92 macular disease patients, 27 of whom were assessed for both outcomes. We also studied visual acuity and sighting dominance in 412 controls. Sighting dominance was evaluated using the hole-in-card test. Among the controls, 70% showed right sighting dominance, and 30%, left sighting dominance. On the other hand, in patients with macular disease, right sighting dominance was demonstrated in 51%, and left in 49%; that is, 24% showed sighting dominance of the affected eye and 76%, of the fellow eye. During follow-up, sighting dominance of three of the 27 macular disease patients shifted from the affected eye to the fellow eye, which showed improvement in visual acuity. This study raises the possibility of sighting dominance shifting in patients with macular disease. There were differences among cases in the timing of the shift in sighting dominance, indicating that visual acuity may not be the only factor influencing sighting dominance. Further study is needed to confirm the factors contributing to sighting dominance.

  9. Spontaneously resolving macular cyst in an infant

    Directory of Open Access Journals (Sweden)

    Anuradha Ganesh

    2013-01-01

    Full Text Available The purpose of this study is to describe transient macular cysts in an infant and correlate their occurrence with normal development events. A newborn Caucasian girl presented with a protruding corneal mass in her left eye at birth. She underwent a complete ophthalmic examination. A keratinized staphylomatous malformation involving the entire cornea and precluding further visualization of the anterior and posterior segment was observed in the left eye. Spectral domain optical coherence tomography (SD-OCT of the right eye performed when the child was approximately 6-week-old had revealed an unexpected finding of macular cysts involving the inner nuclear and outer retinal layers. Corneal transplant in the left eye was performed a month later. Ocular examination under anesthesia just prior to surgery revealed normal intraocular pressure, anterior segment and retina in the right eye. SD-OCT was normal in both eyes and showed complete resolution of the cysts in the right eye. The patient had not been on any medications at that time. Although clinical retinal examination might be unremarkable, SD-OCT may reveal cystic spaces in the macula. In the absence of conditions known to be associated with macular edema, transient macular cysts may arise due to a developmental incompetence of the blood-retinal barrier or may represent transient spaces created during normal migration of retinal cells. Further study is warranted to delineate the entity of transient macular cysts in infancy.

  10. Local configuration pattern features for age-related macular degeneration characterization and classification.

    Science.gov (United States)

    Mookiah, Muthu Rama Krishnan; Acharya, U Rajendra; Fujita, Hamido; Koh, Joel E W; Tan, Jen Hong; Noronha, Kevin; Bhandary, Sulatha V; Chua, Chua Kuang; Lim, Choo Min; Laude, Augustinus; Tong, Louis

    2015-08-01

    Age-related Macular Degeneration (AMD) is an irreversible and chronic medical condition characterized by drusen, Choroidal Neovascularization (CNV) and Geographic Atrophy (GA). AMD is one of the major causes of visual loss among elderly people. It is caused by the degeneration of cells in the macula which is responsible for central vision. AMD can be dry or wet type, however dry AMD is most common. It is classified into early, intermediate and late AMD. The early detection and treatment may help one to stop the progression of the disease. Automated AMD diagnosis may reduce the screening time of the clinicians. In this work, we have introduced LCP to characterize normal and AMD classes using fundus images. Linear Configuration Coefficients (CC) and Pattern Occurrence (PO) features are extracted from fundus images. These extracted features are ranked using p-value of the t-test and fed to various supervised classifiers viz. Decision Tree (DT), Nearest Neighbour (k-NN), Naive Bayes (NB), Probabilistic Neural Network (PNN) and Support Vector Machine (SVM) to classify normal and AMD classes. The performance of the system is evaluated using both private (Kasturba Medical Hospital, Manipal, India) and public domain datasets viz. Automated Retinal Image Analysis (ARIA) and STructured Analysis of the Retina (STARE) using ten-fold cross validation. The proposed approach yielded best performance with a highest average accuracy of 97.78%, sensitivity of 98.00% and specificity of 97.50% for STARE dataset using 22 significant features. Hence, this system can be used as an aiding tool to the clinicians during mass eye screening programs to diagnose AMD.

  11. 梅毒性后葡萄膜炎的眼底自发荧光与眼底血管荧光造影特征%Characteristics of fundus autofluorescence and fundus fluorescein angiography in syphilitic posterior uveitis

    Institute of Scientific and Technical Information of China (English)

    龙永华; 王卫峻; 宫媛媛; 孙晓东

    2013-01-01

    to characterize and contrast the FAF and fundus fluorescein angiography (FFA),indocyanine green angiography (ICGA) findings in patients with syphilitic posterior uveitis.Methods A retrospective series of cases observational study was designed.The clinical data of 27 eyes from 18 patients with syphilitic posterior uveitis were included in Shanghai First People's Hospital from 2010 May to 2012 October,and all the patients were diagnosed by serologic and ophthalmic tests.The patients were assigned to acute stage group(with the course <2 months)and chronic stage group(with the course ≥ 2 months).FFA,ICGA and FAF were performed respectively on all the patients,and the examination results were compared and analyzed.Results In the affected eyes with syphilitic posterior uveitis,the FFA image showed a retinal vasculitis sign and mottle-like fluorescence appearance in posterior pole and equator zone,and some affected eyes exhibited edema of optic disc and macula.Hypoautofluorescence zone was seen in the acute stage group and cystoid macular edema was found in the chronic stage group.ICGA presented with a wider damage of RPE,especially in the later phase of ICGA.A confluent of hyperautofluorescence with hypoautofluorescence in the posterior fundus,punctiform hyperautofluorescence as well as hypoautofluorescence in papillitis and macular edema were found on the FAF image.Conclusions The pathological basis of syphilitic posterior uveitis is retinal vasculitis and papillitis.ICGA indicates the damage of choroid membranes and RPE,and FAF reflects a metabolism disorder of RPE in the acute stage and atrophy and loss of RPE in the chronic stage.FAF is helpful for the diagnosis of syphilitic posterior uveitis as an assistant index.

  12. Tumor vasoproliferativo primário da retina associado a edema macular cistóide: relato de caso Idiopathic vasoproliferative tumor of the retina associated with macular edema: case report

    Directory of Open Access Journals (Sweden)

    Otacílio de Oliveira Maia Júnior

    2005-12-01

    Full Text Available Tumor vasoproliferativo da retina é doença rara, benigna, caracterizada por lesão exsudativa retiniana periférica. Pode ser de origem primária (idiopática ou secundária a uma gama de acometimentos retinianos prévios. O exame oftalmológico cuidadoso se torna necessário para estabelecer o diagnóstico. As opções terapêuticas incluem: observação, crioterapia, fotocoagulação a laser e braquiterapia. No presente estudo, os autores ilustram um caso de tumor vasoproliferativo idiopático da retina associado a edema macular. Serão discutidos aspectos do tumor na fundoscopia, angiofluoresceinografia, ultra-sonografia e tomografia de coerência óptica.Retinal vasoproliferative tumor is a rare and benign disease that presents with an exsudative lesion in the retinal periphery. The lesion can be classified as primary (idiopathic or secondary to a number of previous retinal injuries. Diagnosis is based on a careful ophthalmic examination. Therapeutic options include observation, cryotherapy, laser photocoagulation and brachytherapy. We present a case of idiopathic retinal vasoproliferative tumor associated with macular edema. The aspects of the tumor on fundus examination, fluorescent angiography, echography and optic coherence tomography are discussed.

  13. Long-term changes of macular retinal thickness after idiopathic macular hole surgery

    Directory of Open Access Journals (Sweden)

    Yan Yang

    2014-12-01

    Full Text Available AIM:To determine the changes of regional macular retinal thickness(RTwith spectral domain optical coherence tomography(SD-OCTafter successful pars plana vitrectomy(PPVsurgery with inner limiting membrane(ILMpeeling in patients with idiopathic macular hole.METHODS:A non-randomized retrospective case study on 17 patients(17 eyeswho were hospitalized between March 1, 2011 and June 30, 2013. All 17 eyes had been diagnosed with idiopathic macular hole and thereafter underwent 25G-PPV surgeries performed by the same surgeon with ILM peeling and short-term gas tamponade. In the 6mo-plus follow-up after surgery, these eyes were found to have successful closure in the macular hole. The macular RT of the nine areas in the Early Treatment Diabetic Retinopathy Study was measured by SD-OCT. All patients were applied by SD-OCT with linear scan of the macular. At least four examinations on the operated eye were conducted in contrast to the other normal eye: before the surgery, 3~5wk after the surgery(stage A, 2~3mo after the surgery(stage B, and >6mo after the surgery(stage C.RESULTS:In stage A, the macular RT of operated eyes in the areas of C, IS, II, IN, OS, OI, ON(263.00±39.48, 313.92±18.35, 311.00±18.02, 335.67±19.91, 280.83±33.74, 269.92±23.32, 307.00±28.40were significantly thicker than the corresponding areas of the normal fellow eyes(220.51±23.94, 292.08±21.93, 282.50±20.30, 288.33±20.76, 251.25±17.60, 247.75±21.48, 265.17±24.76μm(PP>0.01. In Stage B, the macular RT in the areas of II, IN, OS(335.67±19.20,319.75±19.20, 273.50±16.89μmwere significantly thicker than the corresponding areas of the normal fellow eyes(286.33±20.46, 293.42±17.64, 252.50±16.32μm(PP> 0.01. In Stage C, the macular RT of operated eyes with the areas of IN(321.17±19.71μmwere significantly thicker than the corresponding areas of the normal fellow eyes(296.25±19.57μm(PP>0.01. Moreover, the macular RT of operated eyes in the areas of ON, IT(307.00±28

  14. Unique identification code for medical fundus images using blood vessel pattern for tele-ophthalmology applications.

    Science.gov (United States)

    Singh, Anushikha; Dutta, Malay Kishore; Sharma, Dilip Kumar

    2016-10-01

    Identification of fundus images during transmission and storage in database for tele-ophthalmology applications is an important issue in modern era. The proposed work presents a novel accurate method for generation of unique identification code for identification of fundus images for tele-ophthalmology applications and storage in databases. Unlike existing methods of steganography and watermarking, this method does not tamper the medical image as nothing is embedded in this approach and there is no loss of medical information. Strategic combination of unique blood vessel pattern and patient ID is considered for generation of unique identification code for the digital fundus images. Segmented blood vessel pattern near the optic disc is strategically combined with patient ID for generation of a unique identification code for the image. The proposed method of medical image identification is tested on the publically available DRIVE and MESSIDOR database of fundus image and results are encouraging. Experimental results indicate the uniqueness of identification code and lossless recovery of patient identity from unique identification code for integrity verification of fundus images. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  15. A Drosophila model for Duchenne muscular dystrophy

    NARCIS (Netherlands)

    Plas, Mariska Cathelijne van der

    2008-01-01

    Duchenne Muscular Dystrophy (DMD) is a severe X-linked disease characterized by progressive muscle wasting and sometimes mild mental retardation. The disease is caused by mutations in the dystrophin gene. DMD is correlated with the absence of Dp427, which is located along the sarcolemma in skeletal

  16. Cardiac manifestations of myotonic dystrophy type 1

    DEFF Research Database (Denmark)

    Petri, Helle; Vissing, John; Witting, Nanna

    2012-01-01

    To estimate the degree of cardiac involvement regarding left ventricular ejection fraction, conduction abnormalities, arrhythmia, risk of sudden cardiac death (SCD) and the associations between cardiac involvement and cytosine-thymine-guanine (CTG)-repeat, neuromuscular involvement, age and gende...... in patients with myotonic dystrophy type 1 (MD1)....

  17. Cardiomyopathy in becker muscular dystrophy:Overview

    Institute of Scientific and Technical Information of China (English)

    Rady Ho; My-Le Nguyen; Paul Mather

    2016-01-01

    Becker muscular dystrophy(BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed.

  18. Infrastructure for Clinical Trials in Duchenne Dystrophy

    Science.gov (United States)

    2010-09-13

    following are key research accomplishments for the Year 1 funding period: Manuscripts in process • DM Escolar, C Tesi -Rocha, E Henricson, J Florence, J...in steroid treated Duchenne Muscular Dystrophy. In revision for journal submission. • A. Zimmerman, C. Tesi -Rocha, P.R. Clemens, A. Connolly, S.T

  19. Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies

    NARCIS (Netherlands)

    Gerard, X.; Garanto Iglesias, A.; Rozet, J.M.; Collin, R.W.J.

    2016-01-01

    Inherited retinal dystrophies (IRDs) are an extremely heterogeneous group of genetic diseases for which currently no effective treatment strategies exist. Over the last decade, significant progress has been made utilizing gene augmentation therapy for a few genetic subtypes of IRD, although several

  20. Nutrition Considerations in Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Davis, Jillian; Samuels, Emily; Mullins, Lucille

    2015-08-01

    Duchenne muscular dystrophy (DMD) is a serious degenerative muscular disease affecting males. Diagnosis usually occurs in childhood and is confirmed through genetic testing and/or muscle biopsy. Accompanying the disease are several nutrition-related concerns: growth, body composition, energy and protein requirements, constipation, swallowing difficulties, bone health, and complementary medicine. This review article addresses the nutrition aspects of DMD.

  1. Brain Function in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2002-02-01

    Full Text Available The role of dystrophin disorders in the CNS function of boys with Duchenne muscular dystrophy (DMD and the dystrophin-deficient mdx mouse, an animal model of DMD, is reviewed at the University of New South Wales, University of Sydney, Australia.

  2. Visuospatial Attention Disturbance in Duchenne Muscular Dystrophy

    Science.gov (United States)

    De Moura, Maria Clara Drummond Soares; do Valle, Luiz Eduardo Ribeiro; Resende, Maria Bernadete Dutra; Pinto, Katia Osternack

    2010-01-01

    Aim: The cognitive deficits present in the Duchenne muscular dystrophy (DMD) are not yet well characterized. Attention, considered to be the brain mechanism responsible for the selection of sensory stimuli, could be disturbed in DMD, contributing, at least partially, to the observed global cognitive deficit. The aim of this study was to…

  3. INTESTINAL PSEUDOOBSTRUCTION IN MYOTONIC-DYSTROPHY

    NARCIS (Netherlands)

    BRUNNER, HG; HAMEL, BCJ; RIEU, P; HOWELER, CJ; PETERS, FTM

    1992-01-01

    We describe four myotonic dystrophy (DM) patients who developed recurrent intestinal pseudo-obstruction. Some episodes were associated with gastroenteritis, while abdominal crowding may have occurred in one case during the third trimester of pregnancy. In most instances, however, no apparent cause c

  4. Clinical features of facioscapulohumeral muscular dystrophy 2.

    NARCIS (Netherlands)

    Greef, J.C. de; Lemmers, R.J.; Camano, P.; Day, J.W.; Sacconi, S.; Dunand, M.; Engelen, B.G.M. van; Kiuru-Enari, S.; Padberg, G.W.A.M.; Rosa, A.L.; Desnuelle, C.; Spuler, S.; Tarnopolsky, M.; Venance, S.L.; Frants, R.R.; Maarel, S.M. van der; Tawil, R.

    2010-01-01

    OBJECTIVE: In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed patients with FSHD2, show loss of DNA methylation and heterochromatin markers at the D4Z4 repeat that are similar to patients with D4

  5. Visuospatial Attention Disturbance in Duchenne Muscular Dystrophy

    Science.gov (United States)

    De Moura, Maria Clara Drummond Soares; do Valle, Luiz Eduardo Ribeiro; Resende, Maria Bernadete Dutra; Pinto, Katia Osternack

    2010-01-01

    Aim: The cognitive deficits present in the Duchenne muscular dystrophy (DMD) are not yet well characterized. Attention, considered to be the brain mechanism responsible for the selection of sensory stimuli, could be disturbed in DMD, contributing, at least partially, to the observed global cognitive deficit. The aim of this study was to…

  6. Quantitative evaluation of reduction of plaque-like hard exudates in diabetic macular edema after intravitreal triamcinolone injection.

    Science.gov (United States)

    Cekiç, Osman; Bardak, Yavuz; Tiğ, U Sahin; Yildizoğlu, Uzeyir; Bardak, Handan

    2008-04-01

    To describe a new method of quantifying the amount of plaque-like hard exudates after intravitreal triamcinolone acetonide injection in diabetic macular edema. This study included 22 eyes of 14 patients (mean age, 63 years) with chronic diabetic macular edema and plaque-like hard exudates. The patients were injected with a single dose of 4 mg intravitreal triamcinolone acetonide. The optic disc size as relative size unit was taken to quantify the hard exudates: Total areas of exudates and the optic nerve head were computed from fundus pictures with a digital analysis program on magnified images. The former was divided by the latter, and the results were expressed as a percentage value. The ratio was used to track improvements in a given eye over 6 months. Average ratio of hard exudates to optic nerve head area reduced to 81% of its initial value at 1 month (P=0.007), to 54% at 3 months (Pexudates to optic disc area of diabetic plaque-like hard exudates following 4 mg intravitreal triamcinolone.

  7. Treatment of cystoid macular edema secondary to chronic non-infectious intermediate uveitis with an intraocular dexamethasone implant

    Directory of Open Access Journals (Sweden)

    Julia Dutra Rossetto

    2015-06-01

    Full Text Available ABSTRACT Purpose: To evaluate the use of a slow-release dexamethasone 0.7-mg intravitreal implant for cystoid macular edema (CME secondary to intermediate uveitis and refractory to systemic steroids. Methods: A retrospective study of the best-corrected visual acuity (BCVA, intraocular inflammation, intraocular pressure (IOP, fundus photography, optical coherence tomography (OCT, inflammation, and adverse reactions of five patients (women, mean age of 35 years with cystoid macular edema treated with a dexamethasone implant. Patients were evaluated in seven visits until the 150th day after the implant. Results: Four patients had bilateral pars planitis and one had bilateral intermediate uveitis associated with juvenile idiopathic arthritis. Six dexamethasone devices were implanted, under topical anesthesia (one each in six eyes, five patients. The mean follow-up time was 5 months. The best-corrected visual acuity improved in all eyes that received an implant, with five having improvements of two or more lines. Optical coherence tomography showed thinning of the macula in all eyes treated, and we saw a correlation between the best-corrected visual acuity and retinal thinning. No serious adverse events occurred and no significant increase in intraocular pressure was observed. Conclusions: Slow-release dexamethasone intravitreal implants can effectively treat CME secondary to intermediate uveitis and refractory to systemic steroids.

  8. Screening for macular disorders: the optometrist's perspective

    Directory of Open Access Journals (Sweden)

    Elsner AE

    2015-03-01

    Full Text Available Ann E Elsner, Brett J King School of Optometry, Indiana University, Bloomington, IN, USA Abstract: Macular screening services can take many forms, offering a variety of roles for optometrists. The need for screening has been demonstrated in industrialized and developing nations alike. Populations of particular interest for macular screening services include individuals at high risk for diabetes, not just diagnosed diabetics, since a significant proportion of those with diabetes do not realize it. Individuals who know they have diabetes are frequently not examined at the recommended intervals. Related populations include patients with a high likelihood of retinal vascular disease and high blood pressure. A second population is older individuals, who are at risk for age-related macular degeneration and degenerative myopia, key causes of vision loss depending upon geographic location and ethnicity. Images showing the complexity of lesions from diabetic retinopathy, age-related macular degeneration, and degenerative myopia illustrate the challenges of screening and classification. A third population to be screened is the large pediatric one. While many children are at risk for developing myopia, which could lead to high myopia, the risk of myopia and retinal damage is far more common in individuals who had low birth weight or premature birth. A variety of types of screening instrumentation are discussed in terms of practicality of use and cost. The technical challenges in populations with dark eyes, small pupils, and poor anterior-segment media are discussed. We discuss the wealth of screening strategies, from permanent sites with trained staff and expert graders to planned campaigns that target specific populations. Successful screening systems include instrumentation that is used within its limits, feedback and supervision during screening and grading, and clear pathways for referral for a complete examination or treatment. Keywords: vision

  9. [New aspects in age related macular degeneration].

    Science.gov (United States)

    Turlea, C

    2012-01-01

    Being the leading cause of blindness in modern world Age Related Macular Degeneration has beneficiated in the last decade of important progress in diagnosis, classification and the discovery of diverse factors who contribute to the etiology of this disease. Treatments have arised who can postpone the irreversible evolution of the disease and thus preserve vision. Recent findings have identified predisposing genetic factors and also inflamatory and imunological parameters that can be modified trough a good and adequate prevention and therapy This articole reviews new aspects of patology of Age Related Macular Degeneration like the role of complement in maintaining inflamation and the role of oxidative stress on different structures of the retina.

  10. The Electrophysiology in Idiopathic Senile Macular Hole

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    Of 12 patients with idiopathic senile full- thickness macular hole, 3 had bilateral involvement, 9 had monocular macular hole. Flash ERG and pattern VEP were performed in the bilateral eyes of all patients. The abnormal rate of the pattern VEP was 93.3% when we used 15' checkboard stimulus, the changes of the VEP appeared as delayed latencies, reduced amplitudes or malformation of P100. The abnormal rate of the flash ERG was 53.3%, showing primary characteristics of reduced amplitudes of cone response b...

  11. Precursors of age-related macular degeneration

    DEFF Research Database (Denmark)

    Munch, Inger Christine; Toft, Ulla; Linneberg, Allan;

    2016-01-01

    PURPOSE: To investigate associations of very early age-related macular degeneration (AMD) with daily intake of vitamin A, beta-carotene, vitamin E, vitamin C, zinc and copper and interactions with AMD-associated polymorphisms in complement factor H (CFHY402H) and ARMS2/LOC387715. METHODS: Cross......: In this cross-sectional study, a higher intake of vitamin A increased the risk of macular drusen >63 μm in subjects with CFHY402H. The study supports that vitamin A may be a risk factor for early AMD....

  12. Identification of the CRB1 gene and analysis of its role in autosomal recessive retinal dystrophies

    NARCIS (Netherlands)

    Hollander, Antonia Ingrid den

    2002-01-01

    Inherited retinal dystrophies generally lead to severe visual impairment early in life. Most genes involved in retinal dystrophies are expressed exclusively or predominantly in the retina or the RPE. To identify candidate genes for inherited retinal dystrophies, we isolated

  13. In vivo confocal microscopy in different types of posterior polymorphous dystrophy

    Directory of Open Access Journals (Sweden)

    Babu Kalpana

    2007-01-01

    Full Text Available Posterior polymorphous dystrophy is a rare corneal dystrophy, usually detected by chance. This case series describes the morphologic features in the three different types of posterior polymorphous dystrophy using confocal microscopy.

  14. Profile of ranibizumab: efficacy and safety for the treatment of wet age-related macular degeneration

    Directory of Open Access Journals (Sweden)

    Chen Y

    2012-07-01

    Full Text Available Youxin Chen, Fei HanDepartment of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, ChinaAbstract: Wet age-related macular degeneration (AMD causes severe vision loss due to the development of choroidal neovascularization (CNV. The critical role of vascular endothelial growth factor in the pathogenesis of CNV is well understood. Ranibizumab plays an inhibitory role with CNV and reduces vascular permeability by binding to vascular endothelial growth factor. Intravitreal ranibizumab reduces the risk of visual acuity (VA loss and increases the chance of VA gain compared with no treatment or photodynamic therapy for CNV in AMD. Some high-quality research has shown that the optimal timing for ranibizumab treating wet AMD is the first 3 months. It is recommended that ranibizumab is intravitreally injected monthly in the initiation for at least 3 months. Subsequent managing of regimens should be made dependent on the VA change, fundus examination, and image of optical coherence topography. An individualized strategy or combined method with photodynamic therapy is beneficial to the active lesion in the consecutive treatment of ranibizumab for CNV, and may be a good choice in order to decrease injection times. Regarding the safety profile, ranibizumab has been well tolerated in clinical trials. The principal ocular adverse event detected in clinical trials is a low frequency of ocular inflammation. Key serious ocular adverse events occurred in <5% of ranibizumab-treated patients in large-scale clinical trials. It appears unlikely that treatment with ranibizumab increases the risk of vascular events significantly. Less frequent injections on an as-needed schedule, based on monthly monitoring may have the most optimal risk:benefit ratio.Keywords: age-related macular degeneration, choroidal neovascularization, ranibizumab, efficacy, safety

  15. Angiographically Documented Macular Ischemia after Single Bevacizumab for Macular Edema Secondary to Central Retinal Vein Occlusion.

    Science.gov (United States)

    Lee, Kyou Ho; Kang, Eui Chun; Koh, Hyoung Jun

    2017-05-01

    This report describes a case of angiographically documented foveal avascular zone (FAZ) enlargement after a single intravitreal injection of bevacizumab for macular edema secondary to central retinal vein occlusion (CRVO). A 71-year-old female was treated with an intravitreal bevacizumab injection for macular edema following CRVO. Despite successfully decreased edema one month after injection, the postinjection best-corrected visual acuity immediately decreased from 20/40 to 20/1000 (Snellen equivalent). The FAZ area increased from 0.37 mm² to 3.11 mm² (8.4-fold increase). While intravitreal anti-vascular endothelial growth factor is effective and should be considered as a first-line treatment for macular edema secondary to CRVO, it may aggravate macular ischemia. © Copyright: Yonsei University College of Medicine 2017.

  16. Wnt/β-catenin promotes gastric fundus specification in mice and humans.

    Science.gov (United States)

    McCracken, Kyle W; Aihara, Eitaro; Martin, Baptiste; Crawford, Calyn M; Broda, Taylor; Treguier, Julie; Zhang, Xinghao; Shannon, John M; Montrose, Marshall H; Wells, James M

    2017-01-12

    Despite the global prevalence of gastric disease, there are few adequate models in which to study the fundus epithelium of the human stomach. We differentiated human pluripotent stem cells (hPSCs) into gastric organoids containing fundic epithelium by first identifying and then recapitulating key events in embryonic fundus development. We found that disruption of Wnt/β-catenin signalling in mouse embryos led to conversion of fundic to antral epithelium, and that β-catenin activation in hPSC-derived foregut progenitors promoted the development of human fundic-type gastric organoids (hFGOs). We then used hFGOs to identify temporally distinct roles for multiple signalling pathways in epithelial morphogenesis and differentiation of fundic cell types, including chief cells and functional parietal cells. hFGOs are a powerful model for studying the development of the human fundus and the molecular bases of human gastric physiology and pathophysiology, and also represent a new platform for drug discovery.

  17. [New Approach of Fundus Image Segmentation Evaluation Based on Topology Structure].

    Science.gov (United States)

    Sheng, Hanwei; Dai, Peishan; Liu, Zhihang; Zhang-Wen, Miaoyun; Zhao, Yali; Fan, Min

    2015-10-01

    In view of the evaluation of fundus image segmentation, a new evaluation method was proposed to make up insufficiency of the traditional evaluation method which only considers the overlap of pixels and neglects topology structure of the retinal vessel. Mathematical morphology and thinning algorithm were used to obtain the retinal vascular topology structure. Then three features of retinal vessel, including mutual information, correlation coefficient and ratio of nodes, were calculated. The features of the thinned images taken as topology structure of blood vessel were used to evaluate retinal image segmentation. The manually-labeled images and their eroded ones of STARE database were used in the experiment. The result showed that these features, including mutual information, correlation coefficient and ratio of nodes, could be used to evaluate the segmentation quality of retinal vessel on fundus image through topology structure, and the algorithm was simple. The method is of significance to the supplement of traditional segmentation evaluation of retinal vessel on fundus image.

  18. Fundus autofluorescence and optical coherence tomography findings in thiamine responsive megaloblastic anemia.

    Science.gov (United States)

    Ach, Thomas; Kardorff, Rüdiger; Rohrschneider, Klaus

    2015-01-01

    To report ophthalmologic fundus autofluorescence and spectral domain optical coherence tomography findings in a patient with thiamine responsive megaloblastic anemia (TRMA). A 13-year-old girl with genetically proven TRMA was ophthalmologically (visual acuity, funduscopy, perimetry, electroretinogram) followed up over >5 years. Fundus imaging also included autofluorescence and spectral domain optical coherence tomography. During a 5-year follow-up, visual acuity and visual field decreased, despite a special TRMA diet. Funduscopy revealed bull's eye appearance, whereas fundus autofluorescence showed central and peripheral hyperfluorescence and perifoveal hypofluorescence. Spectral domain optical coherence tomography revealed affected inner segment ellipsoid band and irregularities in the retinal pigment epithelium and choroidea. Autofluorescence and spectral domain optical coherence tomography findings in a patient with TRMA show retinitis pigmentosa-like retina, retinal pigment epithelium, and choroid alterations. These findings might progress even under special TRMA diet, indispensable to life. Ophthalmologist should consider TRMA in patients with deafness and ophthalmologic disorders.

  19. Ocular fundus pathology and chronic kidney disease in a Chinese population

    Directory of Open Access Journals (Sweden)

    Gao Bixia

    2011-11-01

    Full Text Available Abstract Background Previous study indicated a high prevalence of ocular fundus pathology among patients with chronic kidney disease (CKD, while the relationship between them has never been explored in a Chinese Population. Methods This cross-sectional study included 9 670 participants enrolled in a medical screening program. Ocular fundus examination was performed by ophthalmologists using ophthalmoscopes. The presence of eGFR less than 60 mL/min/1.73 m2 and/or proteinuria was defined as CKD. Results Compared to participants without CKD, participants with CKD had higher prevalence of retinopathy (28.5% vs. 16.3%, P Conclusions Ocular fundus pathology is common among Chinese patients with CKD. Regular eye exam among persons with proteinuria is warranted.

  20. Comparison of film and digital fundus photographs in eyes of individuals with diabetes mellitus

    DEFF Research Database (Denmark)

    Gangaputra, Sapna; Almukhtar, Talat; Glassman, Adam R

    2011-01-01

    To compare grading of diabetic retinopathy (DR) and diabetic macular edema (DME) from stereoscopic film versus stereoscopic digital photographs obtained from a subset of Diabetic Retinopathy Clinical Research Network (DRCR.net) participants....

  1. Long-term effectiveness of ranibizumab for age-related macular degeneration and diabetic macular edema

    OpenAIRE

    Lai, Timothy Y. Y.; Fong

    2013-01-01

    Angie HC Fong,1 Timothy YY Lai1,2 1Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Kowloon, Hong Kong; 22010 Retina and Macula Centre, Tsimshatsui, Kowloon, Hong Kong Abstract: Neovascular age-related macular degeneration (AMD) and diabetic macular edema (DME) are major causes of visual impairment in the elderly population worldwide. With the aging population, the prevalence of neovascular AMD and DME has increased substantially o...

  2. Relationship between macular pigment and visual function in subjects with early age-related macular degeneration

    OpenAIRE

    Akuffo, Kwadwo Owusu; Nolan, John M.; Peto, Tunde; Stack, Jim; Leung, Irene; Corcoran, Laura; Beatty, Stephen

    2016-01-01

    Purpose To investigate the relationship between macular pigment (MP) and visual function in subjects with early age-related macular degeneration (AMD). Methods 121 subjects with early AMD enrolled as part of the Central Retinal Enrichment Supplementation Trial (CREST; ISRCTN13894787) were assessed using a range of psychophysical measures of visual function, including best corrected visual acuity (BCVA), letter contrast sensitivity (CS), mesopic and photopic CS, mesopic and photopic glare disa...

  3. Long-term effectiveness of ranibizumab for age-related macular degeneration and diabetic macular edema

    OpenAIRE

    Fong, Angie HC; Lai, Timothy YY

    2013-01-01

    Neovascular age-related macular degeneration (AMD) and diabetic macular edema (DME) are major causes of visual impairment in the elderly population worldwide. With the aging population, the prevalence of neovascular AMD and DME has increased substantially over the recent years. Vascular endothelial growth factor (VEGF) has been implicated as playing an important role in the pathogenesis of both neovascular AMD and DME. Since its introduction in 2006, ranibizumab, a recombinant, humanized, mon...

  4. Diabetic macular edema, retinopathy and age-related macular degeneration as inflammatory conditions

    OpenAIRE

    Das, Undurti N

    2016-01-01

    Diabetic macular edema (DME) and diabetic retinopathy (DR) are complications affecting about 25% of all patients with long-standing type 1 and type 2 diabetes mellitus and are a major cause of significant decrease in vision and quality of life. Age-related macular degeneration (AMD) is not uncommon, and diabetes mellitus affects the incidence and progression of AMD through altering hemodynamics, increasing oxidative stress, accumulating advanced glycation end products, etc. Recent studies sug...

  5. Effect of retinal photocoagulation on intraretinal lipid exudates in diabetic macular edema documented by optical coherence tomography.

    Science.gov (United States)

    Deák, Gábor Gy; Bolz, Matthias; Kriechbaum, Katharina; Prager, Sonja; Mylonas, Georgios; Scholda, Christoph; Schmidt-Erfurth, Ursula

    2010-04-01

    To study the changes in the distribution and morphologic features of intraretinal microexudates after macular photocoagulation. Prospective cohort study. Thirteen treatment-naïve patients with clinically significant macular edema in type 2 diabetes. Patients were treated with focal macular photocoagulation. Changes in the localization of hyperreflective foci were analyzed by spectral domain (SD) optical coherence tomography (OCT) during follow-up at day 1, week 1, and months 1, 2, 3, and 4 in defined areas. Further, fundus photography and infrared imaging were performed at all visits and findings were correlated to OCT results. Changes in retinal morphologic features detected in OCT. A dynamic change in the distribution pattern of hyperreflective foci was observed over 4 months after the photocoagulation. With the decrease of retinal thickness, the dots either resolved completely or became confluent at the apical border of the outer nuclear layer, and finally formed ophthalmoscopically detectable hard exudates during extended follow-up. In the event of retinal thickening despite laser treatment, the hyperreflective dots maintained their previous distribution throughout all retinal layers. As a fourth response, dissemination of plaques of hard exudates into multiple, separate, hyperreflective foci were detected. Hyperreflective foci in the retina seem to represent precursors or components of hard exudates. Their specific localization depends greatly on the presence of microvascular extravasation and intraretinal fluid accumulation. Retinal photocoagulation has a major impact on retinal edema and subsequently on the distribution of intraretinal lipid deposits. The author(s) have no proprietary or commercial interest in any materials discussed in this article. Copyright 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  6. An image based auto-focusing algorithm for digital fundus photography.

    Science.gov (United States)

    Moscaritolo, Michele; Jampel, Henry; Knezevich, Frederick; Zeimer, Ran

    2009-11-01

    In fundus photography, the task of fine focusing the image is demanding and lack of focus is quite often the cause of suboptimal photographs. The introduction of digital cameras has provided an opportunity to automate the task of focusing. We have developed a software algorithm capable of identifying best focus. The auto-focus (AF) method is based on an algorithm we developed to assess the sharpness of an image. The AF algorithm was tested in the prototype of a semi-automated nonmydriatic fundus camera designed to screen in the primary care environment for major eye diseases. A series of images was acquired in volunteers while focusing the camera on the fundus. The image with the best focus was determined by the AF algorithm and compared to the assessment of two masked readers. A set of fundus images was obtained in 26 eyes of 20 normal subjects and 42 eyes of 28 glaucoma patients. The 95% limits of agreement between the readers and the AF algorithm were -2.56 to 2.93 and -3.7 to 3.84 diopter and the bias was 0.09 and 0.71 diopter, for the two readers respectively. On average, the readers agreed with the AF algorithm on the best correction within less than 3/4 diopter. The intraobserver repeatability was 0.94 and 1.87 diopter, for the two readers respectively, indicating that the limit of agreement with the AF algorithm was determined predominantly by the repeatability of each reader. An auto-focus algorithm for digital fundus photography can identify the best focus reliably and objectively. It may improve the quality of fundus images by easing the task of the photographer.

  7. Classification of diabetic retinopathy using fractal dimension analysis of eye fundus image

    Science.gov (United States)

    Safitri, Diah Wahyu; Juniati, Dwi

    2017-08-01

    Diabetes Mellitus (DM) is a metabolic disorder when pancreas produce inadequate insulin or a condition when body resist insulin action, so the blood glucose level is high. One of the most common complications of diabetes mellitus is diabetic retinopathy which can lead to a vision problem. Diabetic retinopathy can be recognized by an abnormality in eye fundus. Those abnormalities are characterized by microaneurysms, hemorrhage, hard exudate, cotton wool spots, and venous's changes. The diabetic retinopathy is classified depends on the conditions of abnormality in eye fundus, that is grade 1 if there is a microaneurysm only in the eye fundus; grade 2, if there are a microaneurysm and a hemorrhage in eye fundus; and grade 3: if there are microaneurysm, hemorrhage, and neovascularization in the eye fundus. This study proposed a method and a process of eye fundus image to classify of diabetic retinopathy using fractal analysis and K-Nearest Neighbor (KNN). The first phase was image segmentation process using green channel, CLAHE, morphological opening, matched filter, masking, and morphological opening binary image. After segmentation process, its fractal dimension was calculated using box-counting method and the values of fractal dimension were analyzed to make a classification of diabetic retinopathy. Tests carried out by used k-fold cross validation method with k=5. In each test used 10 different grade K of KNN. The accuracy of the result of this method is 89,17% with K=3 or K=4, it was the best results than others K value. Based on this results, it can be concluded that the classification of diabetic retinopathy using fractal analysis and KNN had a good performance.

  8. Progress on retinal image analysis for age related macular degeneration.

    Science.gov (United States)

    Kanagasingam, Yogesan; Bhuiyan, Alauddin; Abràmoff, Michael D; Smith, R Theodore; Goldschmidt, Leonard; Wong, Tien Y

    2014-01-01

    Age-related macular degeneration (AMD) is the leading cause of vision loss in those over the age of 50 years in the developed countries. The number is expected to increase by ∼1.5 fold over the next ten years due to an increase in aging population. One of the main measures of AMD severity is the analysis of drusen, pigmentary abnormalities, geographic atrophy (GA) and choroidal neovascularization (CNV) from imaging based on color fundus photograph, optical coherence tomography (OCT) and other imaging modalities. Each of these imaging modalities has strengths and weaknesses for extracting individual AMD pathology and different imaging techniques are used in combination for capturing and/or quantification of different pathologies. Current dry AMD treatments cannot cure or reverse vision loss. However, the Age-Related Eye Disease Study (AREDS) showed that specific anti-oxidant vitamin supplementation reduces the risk of progression from intermediate stages (defined as the presence of either many medium-sized drusen or one or more large drusen) to late AMD which allows for preventative strategies in properly identified patients. Thus identification of people with early stage AMD is important to design and implement preventative strategies for late AMD, and determine their cost-effectiveness. A mass screening facility with teleophthalmology or telemedicine in combination with computer-aided analysis for large rural-based communities may identify more individuals suitable for early stage AMD prevention. In this review, we discuss different imaging modalities that are currently being considered or used for screening AMD. In addition, we look into various automated and semi-automated computer-aided grading systems and related retinal image analysis techniques for drusen, geographic atrophy and choroidal neovascularization detection and/or quantification for measurement of AMD severity using these imaging modalities. We also review the existing telemedicine studies which

  9. Cataract extraction in eyes with Fuchs' endothelial dystrophy in China

    Institute of Scientific and Technical Information of China (English)

    XIE Li-xin; HUANG Yu-sen; Ann Mei-Chi Chiu; LIN Ping; YAO Zhan; SUN Jie

    2005-01-01

    @@ It is a common belief that Fuchs' endothelial dystrophy predominantly affects Caucasians but rarely Asians. However, in one Japanese study, primary corneal guttae (first stage of Fuchs' dystrophy) were found in four of 107 cataract patients.1 With the growing popularity of phacoemulsification in China in the past decade, the increased incidence of endothelial decompensation may be due to learning curves among surgeons as well as that the prevalence of Fuchs' dystrophy among Chinese is higher than we thought. Low index of suspicion for Fuchs' dystrophy may result in missing of diagnosis and occurrence of endothelial decompensation, particularly when no extra protection is provided for endothelial cells during phacoemulsification. This study was aimed at improving our knowledge about Fuchs' dystrophy among Chinese population and reminding surgeons of extra endothelial protection during cataract surgery for patients with Fuchs' dystrophy.

  10. Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy

    Science.gov (United States)

    2017-05-30

    Muscular Dystrophy, Duchenne; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn

  11. EFFECT OF FUNDUS PIGMENT ON RESPONSE OF RABBIT RETINA TO TRANSPUPILLARY THERMOTHERAPY

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Objective To study the effect of fundus pigment on the response of the retina to transpupillary thermotherapy (TTT). Methods The retina were irradiated with 810 nm diode laser in 16 eyes of 8 pigmented rabbits and 12 eyes of 6 albino rabbits. The spot size was 1.2 mm; the duration was 60 s; and powers were 50, 80, 150 and 300 mW for pigmented rabbits and 800, 1 200 and 1 500mW for albino rabbits. All of the eyes were followed up with ophthalmolscope. The fundus was photographed and examined histologically with optic microscope immediately and 1 month after TTT respectively. Results The changes of the fundus and the histological examination were not significant immediately and 1 month after TTT in 50 mW group of pigmented rabbit and 800 mW of albino rabbit. Grey spot on the retina was observed on the fundus in 80 mW group of pigmented rabbit and 1 200 mW of albino rabbit immediately after TTT. The structure of the retina remained intact and subretinal fluid was observed histologically. Grey spot was still visible on the fundus, though the fluid was absorbed after 1 month. As the power of diode laser was increased to 150 mW for pigmented rabbits and 1500 mW for albino rabbit, fundus white spots were observed and the outer retina was destroyed while photoreceptors existed immediately after TTT. Pigmentation was found in white lesions and the fibrous proliferation was found in choroid 1 month after TTT. Prominent white spot was seen on the fundus immediately after laser irradiation of 300 mW in pigmented rabbits and the structure of the retina was obscured. One month after TTT, dense pigmentation appeared at laser lesions. The retina was thinner. There was prominent fibrous proliferation in the choroid. Conclusion The fundus pigment seems to play an important role in the response of the retina to TTT. The reaction of the retina is in proportion to the intensity of laser.

  12. [Ventricular Tachycardia as a First Manifestation of Myotonic Dystrophy].

    Science.gov (United States)

    Mironov, N Yu; Mironova, N A; Sokolov, S F; Mareev, Yu V; Shlevkov, N B; Saidova, M A; Stukalova, O V; Golitsyn, S P

    2015-01-01

    We report a case of bundle-branch reentrant ventricular tachycardia as a first and severe manifestation of myotonic dystrophy. Progressive cardiac conduction disturbances and cardiac arrhythmias are well-known features of myotonic dystrophy, although they are commonly found in late stage of disease in patients with established diagnosis. We review clinical manifestations, diagnostics, management, and prognostic value of cardiac involvement in myotonic dystrophy.

  13. An unusual central retinal dystrophy associated with ichthyosis vulgaris.

    Science.gov (United States)

    Saatci, O A; Ozbek, Z; Köse, S; Durak, I; Kavukçu, S

    2000-06-01

    A number of ichthyosis syndromes may have retinal abnormalities such as the retinitis pigmentosa-like diffuse rod-cone dystrophy in Refsum's syndrome and the maculopathy in Sjögren-Larsson syndrome. We present two sisters who have an unusual, almost identical, bilaterally symmetric central retinal dystrophy associated with ichthyosis vulgaris in the absence of other systemic disorders. We believe that this dystrophy has not been previously described in patients with any of the known varieties of ichthyosis.

  14. Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

    OpenAIRE

    Oriana del Rocío Cruz Guzmán; Ana Laura Chávez García; Maricela Rodríguez-Cruz

    2012-01-01

    Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies may be insulin resistance and obesity. However, only insulin resistance has been demonstrated in myotonic dystrophy. In addition, endocrine di...

  15. Distinct genetic regions modify specific muscle groups in muscular dystrophy

    OpenAIRE

    2010-01-01

    Phenotypic expression in the muscular dystrophies is variable, even with the identical mutation, providing strong evidence that genetic modifiers influence outcome. To identify genetic modifier loci, we used quantitative trait locus mapping in two differentially affected mouse strains with muscular dystrophy. Using the Sgcg model of limb girdle muscular dystrophy that lacks the dystrophin-associated protein γ-sarcoglycan, we evaluated chromosomal regions that segregated with two distinct quan...

  16. Molecular mechanisms in muscular dystrophy: a gene expression profiling study.

    OpenAIRE

    2006-01-01

    The muscular dystrophies are a group of neuromuscular disorders characterized by progres¬sive muscle weakness and wasting. Although the underlying genetic defects of a large number of muscular dystrophies are now know, the molecular mechanisms resulting in the devastating effects of the disease are not yet clear. Furthermore, the muscular dystrophies differ in clinical presentation and severity. The processes responsible for this di¬vergence are largely unknown as well. In this thesis, gene e...

  17. Macular thickness and volume in the elderly

    DEFF Research Database (Denmark)

    Subhi, Yousif; Forshaw, Thomas; Sørensen, Torben Lykke

    2016-01-01

    manifests in the macula of the elderly focusing on clinical relevant measures that are thicknesses and volumes of different macular areas. Ageing seems to increase center point foveal thickness. Ageing does not seem to change the center subfield thickness significantly. Ageing decreases the inner and outer...

  18. Driving and Age-Related Macular Degeneration

    Science.gov (United States)

    Owsley, Cynthia; McGwin, Gerald, Jr.

    2008-01-01

    This article reviews the research literature on driving and age-related macular degeneration, which is motivated by the link between driving and the quality of life of older adults and their increased collision rate. It addresses the risk of crashes, driving performance, driving difficulty, self-regulation, and interventions to enhance, safety,…

  19. Current status in diabetic macular edema treatments

    Institute of Scientific and Technical Information of China (English)

    Pedro; Romero-Aroca

    2013-01-01

    Diabetes is a serious chronic condition,which increase the risk of cardiovascular diseases,kidney failure and nerve damage leading to amputation.Furthermore the ocular complications include diabetic macular edema,is the leading cause of blindness among adults in the industrialized countries.Today,blindness from diabetic macular edema is largely preventable with timely detection and appropriate interventional therapy.The treatment should include an optimized control of glycemia,arterial tension,lipids and renal status.The photocoagulation laser is currently restricted to focal macular edema in some countries,but due the high cost of intravitreal drugs,the use of laser treatment for focal and diffuse diabetic macular edema(DME),can be valid as gold standard in many countries.The intravitreal anti vascular endothelial growth factor drugs(ranibizumab and bevacizumab),are indicated in the treatment of all types of DME,but the correct protocol for administration should be defined for the different Retina Scientific Societies.The corticosteroids for diffuse DME,has a place in pseudophakic patients,but its complications restricted the use of these drugs for some patients.Finally the intravitreal interface plays an important role and its exploration is mandatory in all DME patients.

  20. Macular Amyloidosis and Epstein-Barr Virus

    Directory of Open Access Journals (Sweden)

    Yalda Nahidi

    2016-01-01

    Full Text Available Background. Amyloidosis is extracellular precipitation of eosinophilic hyaline material of self-origin with special staining features and fibrillar ultrastructure. Macular amyloidosis is limited to the skin, and several factors have been proposed for its pathogenesis. Detection of Epstein-Barr virus (EBV DNA in this lesion suggests that this virus can play a role in pathogenesis of this disease. Objective. EBV DNA detection was done on 30 skin samples with a diagnosis of macular amyloidosis and 31 healthy skin samples in the margin of removed melanocytic nevi by using PCR. Results. In patients positive for beta-globin gene in PCR, BLLF1 gene of EBV virus was positive in 23 patients (8 patients in case and 15 patients in the control group. There was no significant difference in presence of EBV DNA between macular amyloidosis (3.8% and control (23.8% groups (P=0.08. Conclusion. The findings of this study showed that EBV is not involved in pathogenesis of macular amyloidosis.

  1. Depression in Age-Related Macular Degeneration

    Science.gov (United States)

    Casten, Robin; Rovner, Barry

    2008-01-01

    Age-related macular degeneration (AMD) is a major cause of disability in the elderly, substantially degrades the quality of their lives, and is a risk factor for depression. Rates of depression in AMD are substantially greater than those found in the general population of older people, and are on par with those of other chronic and disabling…

  2. Optic disc boundary segmentation from diffeomorphic demons registration of monocular fundus image sequences versus 3D visualization of stereo fundus image pairs for automated early stage glaucoma assessment

    Science.gov (United States)

    Gatti, Vijay; Hill, Jason; Mitra, Sunanda; Nutter, Brian

    2014-03-01

    Despite the current availability in resource-rich regions of advanced technologies in scanning and 3-D imaging in current ophthalmology practice, world-wide screening tests for early detection and progression of glaucoma still consist of a variety of simple tools, including fundus image-based parameters such as CDR (cup to disc diameter ratio) and CAR (cup to disc area ratio), especially in resource -poor regions. Reliable automated computation of the relevant parameters from fundus image sequences requires robust non-rigid registration and segmentation techniques. Recent research work demonstrated that proper non-rigid registration of multi-view monocular fundus image sequences could result in acceptable segmentation of cup boundaries for automated computation of CAR and CDR. This research work introduces a composite diffeomorphic demons registration algorithm for segmentation of cup boundaries from a sequence of monocular images and compares the resulting CAR and CDR values with those computed manually by experts and from 3-D visualization of stereo pairs. Our preliminary results show that the automated computation of CDR and CAR from composite diffeomorphic segmentation of monocular image sequences yield values comparable with those from the other two techniques and thus may provide global healthcare with a cost-effective yet accurate tool for management of glaucoma in its early stage.

  3. Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy.

    Science.gov (United States)

    Wang, Isaac; Khan, Naheed W; Branham, Kari; Wissinger, B; Kohl, Susanne; Heckenlively, J R

    2012-12-01

    To establish the normal range of values for rod-isolated b-wave amplitudes in achromatopsia and cone dystrophies. We reviewed charts of 112 patients with various types of cone dystrophy, and compared their standardized electroretinographic rod b-wave amplitudes with age-matched normal controls. Twenty-six patients had known mutations in achromatopsia and cone dystrophy genes, while 53 were characterized by their inheritance pattern since they had yet to have their gene identified. Visual acuity information and scotomata were documented. We found that patients with achromatopsia and cone dystrophy had rod b-wave amplitudes that were significantly lower than age-matched controls, but found no evidence of rod amplitude progression nor loss of peripheral visual fields in the study group. We found that cone dystrophy patients of all types had depressed rod-isolated ERGs across the board. If typical diagnostic criteria are used, these patients might be considered to have "abnormal" rod-isolated electroretinographic values, and might be called "cone-rod dystrophy", even though the waveforms are stable for years. Patients with cone-rod dysfunction patterns on ERG can be better understood by also performing kinetic (Goldmann) visual fields, which will help to distinguish cone dystrophies from progressive cone-rod dystrophies by central scotomata size and progression over time in many forms of cone-rod dystrophy.

  4. Clinical study on Bevacizumab for macular edema induced by retinal vein occlusion

    Directory of Open Access Journals (Sweden)

    Zhi-Guang Duan

    2014-09-01

    Full Text Available AIM: To evaluate the safety and efficacy of intravitreal bevacizumab injection in patients with macular edema(MEinduced by retinal vein occlusion(RVO.METHODS: The records of patients treated with intravitreal injection of 1.75mg bevacizumab for ME induced by RVO were retrospectively reviewed. All patients were evaluated by complete ophthalmic examination, optical coherence tomography(OCTand fundus fluorescein angiography(FFA, etc. Best corrected visual acuity(BCVA, intraocular pressure, the change of lens and vitreous, central foveal thickness(CFTwere observed at 1, 2, 3, 6mo after treatment and compared with before treatment. Repeated treatment with intravitreous bevacizumab occurred if there were signs of persistent or recurrent exudation. All the cases were followed up at least 6mo. An intravitreal injection of bevacizumab(1.75mgwas given at 6wk intervals.RESULTS: Fifty patients(56 eyeswith the average of(57±18.56years old were included. The mean baseline of BCVA, CFT were(logMAR0.82±0.63,(626.5±178.0μm respectively. Although there was no significant decrease in mean CFT at 1wk after injection, the mean BCVA had significant improvement. Followed up at mean 10.26±5.87mo, BCVA, CFT showed significant improvements over baseline values. The statistics of CFT at 1, 2, 3mo after injection were significant differences compared with before injection in each of the three groups. CFT at 1, 3, 12mo after injection were(365.11±23.212μm,(333.42±35.526μm,(267.6±116.8μm, which had a significant difference(PP>0.05. OCT image showed that after injection macular retinal thickness was becoming thinner. FFA showed that after injection macular fluorescein leakage decreased. BCVA was improved by at least two lines in 48 eyes(86%,remained stable in 8 eyes(14%at the last visit. A total of 112 injections were performed and the average number of injections was 1.96 in the group. About 50% of reinjections gained at least two lines of vision improvement at 1

  5. Decoding simulated neurodynamics predicts the perceptual consequences of age-related macular degeneration.

    Science.gov (United States)

    Shi, Jianing V; Wielaard, Jim; Smith, R Theodore; Sajda, Paul

    2011-12-05

    Age-related macular degeneration (AMD) is the major cause of blindness in the developed world. Though substantial work has been done to characterize the disease, it is difficult to predict how the state of an individual's retina will ultimately affect their high-level perceptual function. In this paper, we describe an approach that couples retinal imaging with computational neural modeling of early visual processing to generate quantitative predictions of an individual's visual perception. Using a patient population with mild to moderate AMD, we show that we are able to accurately predict subject-specific psychometric performance by decoding simulated neurodynamics that are a function of scotomas derived from an individual's fundus image. On the population level, we find that our approach maps the disease on the retina to a representation that is a substantially better predictor of high-level perceptual performance than traditional clinical metrics such as drusen density and coverage. In summary, our work identifies possible new metrics for evaluating the efficacy of treatments for AMD at the level of the expected changes in high-level visual perception and, in general, typifies how computational neural models can be used as a framework to characterize the perceptual consequences of early visual pathologies.

  6. In vivo imaging of retinal pigment epithelium cells in age related macular degeneration.

    Science.gov (United States)

    Rossi, Ethan A; Rangel-Fonseca, Piero; Parkins, Keith; Fischer, William; Latchney, Lisa R; Folwell, Margaret A; Williams, David R; Dubra, Alfredo; Chung, Mina M

    2013-01-01

    Morgan and colleagues demonstrated that the RPE cell mosaic can be resolved in the living human eye non-invasively by imaging the short-wavelength autofluorescence using an adaptive optics (AO) ophthalmoscope. This method, based on the assumption that all subjects have the same longitudinal chromatic aberration (LCA) correction, has proved difficult to use in diseased eyes, and in particular those affected by age-related macular degeneration (AMD). In this work, we improve Morgan's method by accounting for chromatic aberration variations by optimizing the confocal aperture axial and transverse placement through an automated iterative maximization of image intensity. The increase in image intensity after algorithmic aperture placement varied depending upon patient and aperture position prior to optimization but increases as large as a factor of 10 were observed. When using a confocal aperture of 3.4 Airy disks in diameter, images were obtained using retinal radiant exposures of less than 2.44 J/cm(2), which is ~22 times below the current ANSI maximum permissible exposure. RPE cell morphologies that were strikingly similar to those seen in postmortem histological studies were observed in AMD eyes, even in areas where the pattern of fluorescence appeared normal in commercial fundus autofluorescence (FAF) images. This new method can be used to study RPE morphology in AMD and other diseases, providing a powerful tool for understanding disease pathogenesis and progression, and offering a new means to assess the efficacy of treatments designed to restore RPE health.

  7. Quantification of visual field loss in age-related macular degeneration.

    Directory of Open Access Journals (Sweden)

    Jennifer H Acton

    Full Text Available BACKGROUND: An evaluation of standard automated perimetry (SAP and short wavelength automated perimetry (SWAP for the central 10-2 visual field test procedure in patients with age-related macular degeneration (AMD is presented in order to determine methods of quantifying the central sensitivity loss in patients at various stages of AMD. METHODS: 10-2 SAP and SWAP Humphrey visual fields and stereoscopic fundus photographs were collected in 27 eyes of 27 patients with AMD and 22 eyes of 22 normal subjects. RESULTS: Mean Deviation and Pattern Standard Deviation (PSD varied significantly with stage of disease in SAP (both p<0.001 and SWAP (both p<0.001, but post hoc analysis revealed overlap of functional values among stages. In SWAP, indices of focal loss were more sensitive to detecting differences in AMD from normal. SWAP defects were greater in depth and area than those in SAP. Central sensitivity (within 1° changed by -3.9 and -4.9 dB per stage in SAP and SWAP, respectively. Based on defect maps, an AMD Severity Index was derived. CONCLUSIONS: Global indices of focal loss were more sensitive to detecting early stage AMD from normal. The SWAP sensitivity decline with advancing stage of AMD was greater than in SAP. A new AMD Severity Index quantifies visual field defects on a continuous scale. Although not all patients are suitable for SWAP examinations, it is of value as a tool in research studies of visual loss in AMD.

  8. [Correctly evaluate the role of visual acuity in age-related macular degeneration treatment].

    Science.gov (United States)

    Zhang, Feng

    2012-02-01

    Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in aged population. As the aging of population, the prevalence of AMD increases gradually. Anti-VEGF medication intravitreal injection, which can obtain good therapeutic efficiency and is relatively safe, becomes the main therapy for neovascular AMD. However, high-frequency repeated treatment increases the intravitreal injections risk, as well as the costs. In clinical practice, to pursue the best-corrected visual acuity, high-frequency repeated injections are implemented and inflict psychological pressure and economic burden on patients. The author believes that to pursue the best corrected visual acuity is the ultimate aim but not the only one for every ophthalmologist and patient. The activity of lesions should be overall evaluated with fundus imaging technologies. Being people-oriented is the principle in clinical medicine. A treatment plan is made according to the patients' sickness and economy and to coordinate the relation between the best corrected visual acuity and the numbers of treatment. Based on the stabilized lesion, patient should be benefited at the lowest risk and cost with the best effect.

  9. Facioscapulohumeral dystrophy: case report and discussion.

    Science.gov (United States)

    Castellano, Vincenzo; Feinberg, Joseph; Michaels, Jennifer

    2008-09-01

    Facioscapulohumeral dystrophy (FSHD) is often cited as the third most common form of muscular dystrophy. Therefore, it should be considered in patients with complaints of progressive weakness. We present the case of a man with facial, truncal, and leg weakness that initially sought medical attention for lower back pain. Electrodiagnostic testing revealed findings in the trapezius, serratus anterior, biceps, triceps, pectoralis major, tibialis anterior, and gastrocnemius muscles consistent with a myopathic disorder. Subsequent genetic testing identified a FSHD allele size consistent with a FSHD deletion mutation. Therefore, confirming the diagnosis of FSHD. Unfortunately, no effective treatments currently exist for FSHD. However, supportive measures involving physical therapy and the use of orthotics may aid in improving function and mobility.

  10. Anoctamin 5 muscular dystrophy in Denmark

    DEFF Research Database (Denmark)

    Witting, Nanna; Duno, Morten; Petri, Helle

    2013-01-01

    Since the initial description in 2010 of anoctamin 5 deficiency as a cause of muscular dystrophy, a handful of papers have described this disease in cases of mixed populations. We report the first large regional study and present data on new aspects of prevalence, muscular and cardiac phenotypic...... characteristics, and muscle protein expression. All patients in our neuromuscular unit with genetically unclassified, recessive limb girdle muscular dystrophy (LGMD2), Miyoshi-type distal myopathy (MMD) or persistent asymptomatic hyperCK-emia (PACK) were assessed for mutations in the ANO5 gene. Genetically...... confirmed patients were evaluated with muscular and cardiopulmonary examination. Among 40 unclassified patients (28 LGMD2, 5 MMD, 7 PACK), 20 were homozygous or compound heterozygous for ANO5 mutations, (13 LGMD2, 5 MMD, 2 PACK). Prevalence of ANO5 deficiency in Denmark was estimated at 1:100.000 and ANO5...

  11. Microperimetry and optical coherence tomography in a case of traumatic macular hole and associated macular detachment with spontaneous resolution

    Directory of Open Access Journals (Sweden)

    Lalit Aalok

    2012-01-01

    Full Text Available The association of macular detachment with posttraumatic macular hole is a known but rare occurrence. Spontaneously occurring resolution of the detachment and closure of the macular hole has been reported only once in the literature. We describe a similar rare event in a young male, the documentation of which was done serially by microperimetry (MP and optical coherence tomography (OCT. A 17-year-old male presented with a decrease in vision following a closed globe injury to the left eye. A coexisting macular hole and macular detachment were detected in the affected eye. Serial follow-up with OCT and MP documented complete resolution of the macular hole and the macular detachment within 1 week of presentation. The case highlights that spontaneous resolution of traumatic macular hole and related macular detachment may occur and a waiting period is advisable before undertaking any corrective surgical procedure. The pathophysiologic mechanisms of causation and the resolution of posttraumatic macular hole-related retinal detachment are discussed.

  12. New Advanced Technology for Muscular Dystrophy

    Science.gov (United States)

    2009-11-01

    References Aristotle. 350 BC. Historia Animalium: Books VII–X. 1991 edition. D.M. Balme, editor. Harvard University Press, Cambridge, MA. 435–437...hematological disease, and have been proposed as a source for cell based therapies of muscular dystrophy. Since the University of Minnesota is a center...Blood and Marrow Transplantation program at the University of Minnesota to assure that we receive appropriate tissues as they become available. Having

  13. Severe dystrophy in DiGeorge syndrome

    Institute of Scientific and Technical Information of China (English)

    Barnabás Rózsai; (A)kos Kiss; Gy(o)rgyi Csábi; Márta Czakó; Tamás Decsi

    2009-01-01

    We present the case history of a 3-year-old girl who was examined because of severe dystrophy. In the background, cow's milk allergy was found, but her body weight was unchanged after eliminating milk from her diet. Other types of malabsorption were excluded. Based on nasal regurgitation and facial dysmorphisms, the possibility of DiGeorge syndrome was suspected and was confirmed by fluorescence in situ hybridization. The authors suggest a new feature associated with DiGeorge syndrome.

  14. Growth hormone evaluation in Duchenne muscular dystrophy.

    Science.gov (United States)

    Merlini, L; Granata, C; Ballestrazzi, A; Cornelio, F; Tassoni, P; Tugnoli, S; Cacciari, E

    1988-10-01

    Growth hormone (GH) release with pharmacological tests and sleep test, somatomedin C and auxological features were studied in 10 patients affected by Duchenne Muscular Dystrophy. GH release in these patients seems to be lower than normal; moreover some of them are of short stature without an evident relationship with GH deficit. The possible significance of the data obtained is discussed, particularly in relation to the clinical course of the disease, and to current therapeutic trials with a GH release inhibitor (mazindol).

  15. Urological manifestations of Duchenne muscular dystrophy.

    Science.gov (United States)

    Askeland, Eric J; Arlen, Angela M; Erickson, Bradley A; Mathews, Katherine D; Cooper, Christopher S

    2013-10-01

    Duchenne muscular dystrophy is a dystrophinopathy affecting males that is associated with multiple organ system complications. To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date. We reviewed the medical charts of 135 patients with Duchenne or Duchenne-Becker muscular dystrophy for demographics and disease progression, urological diagnoses, intervention and followup. Of 135 patients 67 (50%) had at least 1 documented urological diagnosis and 38 (28%) had multiple manifestations. Lower urinary tract symptoms were the most common urological diagnosis (32% of patients). Survival analysis revealed a median age at onset of lower urinary tract symptoms of 23 years (95% CI 17.7-23.9). Intervention was required in 12 patients (9%), most commonly due to nephrolithiasis. Urological morbidity increased with Duchenne muscular dystrophy progression when stratified by clinical progression. Lower urinary tract symptoms were more common in nonambulatory patients (40.7% vs 19%, p = 0.007), those with a diagnosis of scoliosis (44% vs 19.7%, p = 0.003) and/or scoliosis spine surgery (60% vs 22%, p <0.001), and those on invasive respiratory support (53% vs 29%, p = 0.046). Likewise, nephrolithiasis was more common in nonambulatory patients (10% vs 0%, p = 0.017), those with scoliosis (12% vs 0%, p = 0.004) and/or scoliosis spine surgery (20% vs 1%, p <0.001), and those on invasive respiratory support (29% vs 3%, p <0.001). Only 28% of patients with a urological manifestation were referred to urology. As these patients transition into adolescence and adulthood, the increased prevalence of urological manifestations warrants increased awareness and referral to urologists. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  16. The superhealing MRL background improves muscular dystrophy

    OpenAIRE

    2012-01-01

    Abstract Background Mice from the MRL or “superhealing” strain have enhanced repair after acute injury to the skin, cornea, and heart. We now tested an admixture of the MRL genome and found that it altered the course of muscle pathology and cardiac function in a chronic disease model of skeletal and cardiac muscle. Mice lacking γ-sarcoglycan (Sgcg), a dystrophin-associated protein, develop muscular dystrophy and cardiomyopathy similar to their human counterparts with limb girdle muscular dyst...

  17. Bietti’ Crystalline Retinal Dystrophy: A Case Report

    Directory of Open Access Journals (Sweden)

    Muhammed Şahin

    2016-03-01

    Full Text Available Bietti’ crystalline retinal dystrophy (BCD is a rare, auto­somal, recessively inherited disorder, characterized by the deposition of yellow crystals in the corneal limbus and retina. In this paper we aimed to present a pediatric case with BCD, with clinical, electrophysiological and spectral domain optical coherence tomography (SD-OCT findings and discuss BCD with the light of the literature. J Clin Exp Invest 2016; 7 (1: 94-97

  18. Ocular Fundus Photography as a Tool to Study Stroke and Dementia.

    Science.gov (United States)

    Cheung, Carol Y; Chen, Christopher; Wong, Tien Y

    2015-10-01

    Although cerebral small vessel disease has been linked to stroke and dementia, due to limitations of current neuroimaging technology, direct in vivo visualization of changes in the cerebral small vessels (e.g., cerebral arteriolar narrowing, tortuous microvessels, blood-brain barrier damage, capillary microaneurysms) is difficult to achieve. As the retina and the brain share similar embryological origin, anatomical features, and physiologic properties with the cerebral small vessels, the retinal vessels offer a unique and easily accessible "window" to study the correlates and consequences of cerebral small vessel diseases in vivo. The retinal microvasculature can be visualized, quantified and monitored noninvasively using ocular fundus photography. Recent clinic- and population-based studies have demonstrated a close link between retinal vascular changes seen on fundus photography and stroke and dementia, suggesting that ocular fundus photography may provide insights to the contribution of microvascular disease to stroke and dementia. In this review, we summarize current knowledge on retinal vascular changes, such as retinopathy and changes in retinal vascular measures with stroke and dementia as well as subclinical makers of cerebral small vessel disease, and discuss the possible clinical implications of these findings in neurology. Studying pathologic changes of retinal blood vessels may be useful for understanding the etiology of various cerebrovascular conditions; hence, ocular fundus photography can be potentially translated into clinical practice.

  19. An indirect action of dopamine on the rat fundus strip mediated by 5-hydroxytryptamine

    NARCIS (Netherlands)

    Sonneville, P.F.

    Dopamine in a concentration of 10−7 molar produces a contraction of the rat stomach fundus preparation. This effect is blocked by the 5-HT antagonist methysergide. Repeated exposure to dopamine results in tachyphylaxis, but the sensitivity to dopamine can be restored by incubating the tissue with

  20. Quality Enhancement and Nerve Fibre Layer Artefacts Removal in Retina Fundus Images by Off Axis Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Giancardo, Luca [ORNL; Meriaudeau, Fabrice [ORNL; Karnowski, Thomas Paul [ORNL; Li, Yaquin [University of Tennessee, Knoxville (UTK); Tobin Jr, Kenneth William [ORNL; Chaum, Edward [University of Tennessee, Knoxville (UTK)

    2011-01-01

    Retinal fundus images acquired with non-mydriatic digital fundus cameras are a versatile tool for the diagnosis of various retinal diseases. Because of the ease of use of newer camera models and their relative low cost, these cameras are employed worldwide by retina specialists to diagnose diabetic retinopathy and other degenerative diseases. Even with relative ease of use, the images produced by these systems sometimes suffer from reflectance artefacts mainly due to the nerve fibre layer (NFL) or other camera lens related reflections. We propose a technique that employs multiple fundus images acquired from the same patient to obtain a single higher quality image without these reflectance artefacts. The removal of bright artefacts, and particularly of NFL reflectance, can have great benefits for the reduction of false positives in the detection of retinal lesions such as exudate, drusens and cotton wool spots by automatic systems or manual inspection. If enough redundant information is provided by the multiple images, this technique also compensates for a suboptimal illumination. The fundus images are acquired in straightforward but unorthodox manner, i.e. the stare point of the patient is changed between each shot but the camera is kept fixed. Between each shot, the apparent shape and position of all the retinal structures that do not exhibit isotropic reflectance (e.g. bright artefacts) change. This physical effect is exploited by our algorithm in order to extract the pixels belonging to the inner layers of the retina, hence obtaining a single artefacts-free image.

  1. Visual stimulus-induced changes in human near-infrared fundus reflectance

    NARCIS (Netherlands)

    Abramoff, M.D.; Kwon, Y.H.; Ts’o, D.; Soliz, P.; Zimmerman, B.; Pokorny, J.; Kardon, R.

    2006-01-01

    PURPOSE. Imaging studies from anesthetized feline, primate, and human retinas have revealed near-infrared fundus reflectance changes induced by visible light stimulation. In the present study, the spatial and temporal properties of similar changes were characterized in normal, awake humans. METHODS.

  2. Retinopathy online challenge: automatic detection of microaneurysms in digital color fundus photographs.

    NARCIS (Netherlands)

    Niemeijer, M.; Ginneken, B. van; Cree, M.J.; Mizutani, A.; Quellec, G.; Sanchez, C.I.; Zhang, B.; Hornero, R.; Lamard, M.; Muramatsu, C.; Wu, X.; Cazuguel, G.; You, J.; Mayo, A.; Li, Q.; Hatanaka, Y.; Cochener, B.; Roux, C.; Karray, F.; Garcia, M.; Fujita, H.; Abramoff, M.D.

    2010-01-01

    The detection of microaneurysms in digital color fundus photographs is a critical first step in automated screening for diabetic retinopathy (DR), a common complication of diabetes. To accomplish this detection numerous methods have been published in the past but none of these was compared with each

  3. An indirect action of dopamine on the rat fundus strip mediated by 5-hydroxytryptamine

    NARCIS (Netherlands)

    Sonneville, P.F.

    1968-01-01

    Dopamine in a concentration of 10−7 molar produces a contraction of the rat stomach fundus preparation. This effect is blocked by the 5-HT antagonist methysergide. Repeated exposure to dopamine results in tachyphylaxis, but the sensitivity to dopamine can be restored by incubating the tissue with 5-

  4. High K+-Induced Relaxation by Nitric Oxide in Human Gastric Fundus

    Science.gov (United States)

    Kim, Dae Hoon; Choi, Woong; Sung, Rohyun; Kim, Hun Sik; Kim, Heon; Yoo, Ra Young; Park, Seon-Mee; Yun, Sei Jin; Song, Young-Jin; Xu, Wen-Xie; Lee, Sang Jin

    2012-01-01

    This study was designed to elucidate high K+-induced relaxation in the human gastric fundus. Circular smooth muscle from the human gastric fundus greater curvature showed stretch-dependent high K+ (50 mM)-induced contractions. However, longitudinal smooth muscle produced stretch-dependent high K+-induced relaxation. We investigated several relaxation mechanisms to understand the reason for the discrepancy. Protein kinase inhibitors such as KT 5823 (1 µM) and KT 5720 (1 µM) which block protein kinases (PKG and PKA) had no effect on high K+-induced relaxation. K+ channel blockers except 4-aminopyridine (4-AP), a voltage-dependent K+ channel (KV) blocker, did not affect high K+-induced relaxation. However, N(G)-nitro-L-arginine and 1H-(1,2,4)oxadiazolo (4,3-A)quinoxalin-1-one, an inhibitors of soluble guanylate cyclase (sGC) and 4-AP inhibited relaxation and reversed relaxation to contraction. High K+-induced relaxation of the human gastric fundus was observed only in the longitudinal muscles from the greater curvature. These data suggest that the longitudinal muscle of the human gastric fundus greater curvature produced high K+-induced relaxation that was activated by the nitric oxide/sGC pathway through a KV channel-dependent mechanism. PMID:23118553

  5. CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

    Directory of Open Access Journals (Sweden)

    David Neubauer

    2001-07-01

    Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

  6. [Management of myocardial damage in muscular dystrophy].

    Science.gov (United States)

    Tamura, Takuhisa

    2011-11-01

    Heart failure (HF) is a fatal complication in many muscular dystrophy cases and has become the most common cause of death in Duchenne muscular dystrophy (DMD) since 2001. HF deaths in DMD occur in young patients and increase, along with respiratory failure, in older patients. Managing HF, therefore, is the most important component of DMD treatment. Management of HF is necessary in DMD patients of all ages because myocardial damage progresses regardless of age and disability. Electrocardiography, echocardiography, myocardial single-photon emission computed tomography (SPECT), and natriuretic peptides are used for the diagnosis of myocardial damage and chronic HF. Tissue Doppler echocardiography is in particularly useful for early detection of minute myocardial damage and dysfunction in DMD. The first-line drugs for chronic HF are angiotensin-converting enzyme inhibitors, and the prognosis of DMD patients has been improved using these drugs and beta-blockers. Diuretics are added in the presence of pulmonary congestion. Digoxin is most effective at a blood level of 0.5-0.8 ng/mL because of its pharmacokinetics in DMD. Surgical treatment may be necessary in cases of intractable HF. Cardiac resynchronization therapy (biventricular pacing), a treatment with an artificial pacemaker, is indicated for cases that meet specific criteria, including HF with ventricular dyssynchrony. Applications of partial left ventriculectomy (Batista procedure) and left ventricular assist devices in muscular dystrophy are likely in the near future.

  7. Macular Pigment and Lutein Supplementation in ABCA4-associated Retinal Degenerations

    Science.gov (United States)

    Aleman, Tomas S.; Cideciyan, Artur V.; Windsor, Elizabeth A. M.; Schwartz, Sharon B.; Swider, Malgorzata; Chico, John D.; Sumaroka, Alexander; Pantelyat, Alexander Y.; Duncan, Keith G.; Gardner, Leigh M.; Emmons, Jessica M.; Steinberg, Janet D.; Stone, Edwin M.; Jacobson, Samuel G.

    2008-01-01

    PURPOSE To determine macular pigment (MP) optical density (OD) in patients with ABCA4-associated retinal degenerations (ABCA4-RD) and the response of MP and vision to supplementation with lutein. METHODS Stargardt disease or cone-rod dystrophy patients with foveal fixation and with known or suspected disease-causing mutations in the ABCA4 gene were included. MPOD profiles were measured with heterochromatic flicker photometry. Serum carotenoids, visual acuity, foveal sensitivity and retinal thickness were quantified. Changes in MPOD and central vision were determined in a subset of patients receiving oral supplementation with lutein for 6 months. RESULTS MPOD in patients ranged from normal to markedly abnormal. As a group, ABCA4-RD patients had reduced foveal MPOD and there was strong correlation with retinal thickness. Average foveal tissue concentration of MP, estimated by dividing MPOD by retinal thickness, was normal in patients whereas serum concentration of lutein and zeaxanthin was significantly lower than normal. After oral lutein supplementation for 6 months, 91% of the patients showed significant increases in serum lutein and 63% of the patient eyes showed a significant augmentation in MPOD. The retinal responders tended to be female, and have lower serum lutein and zeaxanthin, lower MPOD and greater retinal thickness at baseline. Responding eyes had significantly lower baseline MP concentration compared to non-responding eyes. Central vision was unchanged after the period of supplementation. CONCLUSIONS MP is strongly affected by the stage of ABCA4 disease leading to abnormal foveal architecture. MP could be augmented by supplemental lutein in some patients. There was no change in central vision after 6 months of lutein supplementation. Long-term influences on the natural history of this supplement on macular degenerations require further study. PMID:17325179

  8. Effect of change in macular birefringence imaging protocol on retinal nerve fiber layer thickness parameters using GDx VCC in eyes with macular lesions.

    Science.gov (United States)

    Dada, Tanuj; Tinwala, Sana I; Dave, Vivek; Agarwal, Anand; Sharma, Reetika; Wadhwani, Meenakshi

    2014-08-01

    This study evaluates the effect of two macular birefringence protocols (bow-tie retardation and irregular macular scan) using GDx VCC on the retinal nerve fiber layer (RNFL) thickness parameters in normal eyes and eyes with macular lesions. In eyes with macular lesions, the standard protocol led to significant overestimation of RNFL thickness which was normalized using the irregular macular pattern protocol. In eyes with normal macula, absolute RNFL thickness values were higher in irregular macular pattern protocols with the difference being statistically significant for all parameters except for inferior average thickness. This has implications for monitoring glaucoma patients who develop macular lesions during the course of their follow-up.

  9. Optical coherence tomography (OCT) for detection of macular oedema in patients with diabetic retinopathy

    Science.gov (United States)

    Virgili, Gianni; Menchini, Francesca; Casazza, Giovanni; Hogg, Ruth; Das, Radha R; Wang, Xue; Michelessi, Manuele

    2015-01-01

    Background Diabetic macular oedema (DMO) is a thickening of the central retina, or the macula, and is associated with long-term visual loss in people with diabetic retinopathy (DR). Clinically significant macular oedema (CSMO) is the most severe form of DMO. Almost 30 years ago, the Early Treatment Diabetic Retinopathy Study (ETDRS) found that CSMO, diagnosed by means of stereoscopic fundus photography, leads to moderate visual loss in one of four people within three years. It also showed that grid or focal laser photocoagulation to the macula halves this risk. Recently, intravitreal injection of antiangiogenic drugs has also been used to try to improve vision in people with macular oedema due to DR. Optical coherence tomography (OCT) is based on optical reflectivity and is able to image retinal thickness and structure producing cross-sectional and three-dimensional images of the central retina. It is widely used because it provides objective and quantitative assessment of macular oedema, unlike the subjectivity of fundus biomicroscopic assessment which is routinely used by ophthalmologists instead of photography. Optical coherence tomography is also used for quantitative follow-up of the effects of treatment of CSMO. Objectives To determine the diagnostic accuracy of OCT for detecting DMO and CSMO, defined according to ETDRS in 1985, in patients referred to ophthalmologists after DR is detected. In the update of this review we also aimed to assess whether OCT might be considered the new reference standard for detecting DMO. Search methods We searched the Cochrane Database of Systematic Reviews (CDSR), the Database of Abstracts of Reviews of Effects (DARE), the Health Technology Assessment Database (HTA) and the NHS Economic Evaluation Database (NHSEED) (The Cochrane Library 2013, Issue 5), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to June 2013), EMBASE (January 1950 to June 2013), Web

  10. Role of M1 receptor in regulation of gastric fundus smooth muscle contraction

    Directory of Open Access Journals (Sweden)

    Marta Gajdus

    2011-09-01

    Full Text Available Background:The subject of this study is determination of the influence of drugs on gastric fundus smooth muscle contraction induced by activation of muscarinic receptors M1. Experiments tested interactions between a receptor agonist, carbachol and muscarinic receptor antagonists, atropine and pirenzepine.Material/Methods:Testing was conducted on tissues isolated from rat’s stomach. Male Wistar rats with weight between 220 g and 360 g were anesthetized by intraperitoneal injection of urethane (120 mg/kg. The stomach was dissected, and later the gastric fundus was isolated. Tissue was placed in a dish for insulated organs with 20 ml in capacity, filled with Krebs fluid. Results contained in the study are average values ± SE. In order to determine statistical significance, the principles of receptor theory were used (Kenakin modification.Results:According to tests, carbachol, in concentrations ranging between 10–8 M to 10–4 M, in a dosage-dependent way induces gastric fundus smooth muscle contraction. Presented results indicate that carbachol meets the conditions posed to full agonists. On the other hand, atropine, a non-selective muscarinic receptor antagonist, causes a concentration-dependent shift of concentration-effect curve (for carbachol to the right, maintaining maximum reaction. According to analysis of the curve determined, we can deduce that atropine meets the conditions posed to competitive antagonists. The use of pirenzepine, a competitive receptor agonist M1, causes shift of concentration-effect curve (for carbachol to the right, maintaining maximum reaction.Conclusions:From the testing conducted on the preparation of the gastric fundus we can deduce that atropine causes shift of concentration-effect curves for carbachol to the right. A similar effect is released by pirenzepine, selectively blocking muscarinic receptors of M1 type. The results indicate that in the preparation of the gastric fundus smooth muscle, M1 type

  11. Role of M1 receptor in regulation of gastric fundus smooth muscle contraction.

    Science.gov (United States)

    Gajdus, Marta; Szadujkis-Szadurska, Katarzyna; Szadujkis-Szadurski, Leszek; Glaza, Izabela; Szadujkis-Szadurski, Rafał; Olkowska, Joanna

    2011-09-14

    The subject of this study is determination of the influence of drugs on gastric fundus smooth muscle contraction induced by activation of muscarinic receptors M1. Experiments tested interactions between a receptor agonist, carbachol and muscarinic receptor antagonists, atropine and pirenzepine. Testing was conducted on tissues isolated from rat's stomach. Male Wistar rats with weight between 220 g and 360 g were anesthetized by intraperitoneal injection of urethane (120 mg/kg). The stomach was dissected, and later the gastric fundus was isolated. Tissue was placed in a dish for insulated organs with 20 ml in capacity, filled with Krebs fluid. Results contained in the study are average values ± SE. In order to determine statistical significance, the principles of receptor theory were used (Kenakin modification). According to tests, carbachol, in concentrations ranging between 10(-8) M to 10(-4) M, in a dosage-dependent way induces gastric fundus smooth muscle contraction. Presented results indicate that carbachol meets the conditions posed to full agonists. On the other hand, atropine, a non-selective muscarinic receptor antagonist, causes a concentration-dependent shift of concentration-effect curve (for carbachol) to the right, maintaining maximum reaction. According to analysis of the curve determined, we can deduce that atropine meets the conditions posed to competitive antagonists. The use of pirenzepine, a competitive receptor agonist M1, causes shift of concentration-effect curve (for carbachol) to the right, maintaining maximum reaction. From the testing conducted on the preparation of the gastric fundus we can deduce that atropine causes shift of concentration-effect curves for carbachol to the right. A similar effect is released by pirenzepine, selectively blocking muscarinic receptors of M1 type. The results indicate that in the preparation of the gastric fundus smooth muscle, M1 type receptors occur also postsynaptically.

  12. Subretinal Fibrosis in Stargardt’s Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation

    Directory of Open Access Journals (Sweden)

    Settimio Rossi

    2012-12-01

    Full Text Available Purpose: To report on 4 patients affected by Stargardt’s disease (STGD with fundus flavimaculatus (FFM and ABCA4 gene mutation associated with subretinal fibrosis. Methods: Four patients with a diagnosis of STGD were clinically examined. All 4 cases underwent a full ophthalmologic evaluation, including best-corrected visual acuity measured by the Snellen visual chart, biomicroscopic examination, fundus examination, fundus photography, electroretinogram, microperimetry, optical coherence tomography and fundus autofluorescence. All patients were subsequently screened for ABCA4 gene mutations, identified by microarray genotyping and confirmed by conventional DNA sequencing of the relevant exons. Results: In all 4 patients, ophthalmologic exam showed areas of subretinal fibrosis in different retinal sectors. In only 1 case, these lesions were correlated to an ocular trauma as confirmed by biomicroscopic examination of the anterior segment that showed a nuclear cataract dislocated to the superior site and vitreous opacities along the lens capsule. The other patients reported a lifestyle characterized by competitive sport activities. The performed instrumental diagnostic investigations confirmed the diagnosis of STGD with FFM in all patients. Moreover, in all 4 affected individuals, mutations in the ABCA4 gene were found. Conclusions: Patients with the diagnosis of STGD associated with FFM can show atypical fundus findings. We report on 4 patients affected by STGD with ABCA4 gene mutation associated with subretinal fibrosis. Our findings suggest that this phenomenon can be accelerated by ocular trauma and also by ocular microtrauma caused by sport activities, highlighting that lifestyle can play a role in the onset of these lesions.

  13. Telemedicine for diabetic retinopathy screening using an ultra-widefield fundus camera

    Directory of Open Access Journals (Sweden)

    Hussain N

    2017-08-01

    Full Text Available Nazimul Hussain,1 Maryam Edraki,2 Rima Tahhan,2 Nishanth Sanalkumar,2 Sami Kenz,2 Nagwa Khalil Akasha,2 Brian Mtemererwa,2 Nahed Mohammed2 1Department of Ophthalmology, Al Zahra Hospital, Sharjah, United Arab Emirates; 2Department of Endocrinology, Al Zahra Hospital, Sharjah, United Arab Emirates Objective: Telemedicine reporting of diabetic retinopathy (DR screening using ultra-widefield (UWF fundus camera. Materials and methods: Cross-sectional study of diabetic patients who visited the endocrinology department of a private multi-specialty hospital in United Arab Emirates between April 2015 and January 2017 who underwent UWF fundus imaging. Fundus pictures are then accessed at the Retina Clinic in the Department of Ophthalmology. Primary outcome measure was incidence of any form of DR detected. The secondary outcome measure was failure to take good image and inability to grade. Results: A total of 1,024 diabetic individuals were screened for DR from April 2015 to January 2017 in the department of Endocrinology. Rate of DR was 9.27%; 165 eyes of 95 individuals were diagnosed to have some form of DR. Mild non-proliferative DR (NPDR was seen in 114 of 165 eyes (69.09%, moderate NPDR in 32 eyes (19.39%, severe NPDR in six eyes (3.64%, and proliferative DR (PDR in 13 eyes (7.88%. The secondary outcome measure of poor image acquisition was seen in one individual who had an image acquired in one eye that could not be graded due to bad picture quality. Conclusions: The present study has shown the effectiveness of DR screening using UWF fundus camera. It has shown the effectiveness of trained nursing personnel taking fundus images. This model can be replicated in any private multi-specialty hospital and reduce the burden of DR screening in the retina clinic and enhance early detection of treatable DR. Keywords: telemedicine, ultra-widefield camera, diabetic retinopathy screening

  14. Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration.

    Science.gov (United States)

    Radu, Roxana A; Hu, Jane; Yuan, Quan; Welch, Darcy L; Makshanoff, Jacob; Lloyd, Marcia; McMullen, Stephen; Travis, Gabriel H; Bok, Dean

    2011-05-27

    Accumulation of vitamin A-derived lipofuscin fluorophores in the retinal pigment epithelium (RPE) is a pathologic feature of recessive Stargardt macular dystrophy, a blinding disease caused by dysfunction or loss of the ABCA4 transporter in rods and cones. Age-related macular degeneration, a prevalent blinding disease of the elderly, is strongly associated with mutations in the genes for complement regulatory proteins (CRP), causing chronic inflammation of the RPE. Here we explore the possible relationship between lipofuscin accumulation and complement activation in vivo. Using the abca4(-/-) mouse model for recessive Stargardt, we investigated the role of lipofuscin fluorophores (A2E-lipofuscin) on oxidative stress and complement activation. We observed higher expression of oxidative-stress genes and elevated products of lipid peroxidation in eyes from abca4(-/-) versus wild-type mice. We also observed higher levels of complement-activation products in abca4(-/-) RPE cells. Unexpectedly, expression of multiple CRPs, which protect cells from attack by the complement system, were lower in abca4(-/-) versus wild-type RPE. To test whether acute exposure of healthy RPE cells to A2E-lipofuscin affects oxidative stress and expression of CRPs, we fed cultured fetal-derived human RPE cells with rod outer segments from wild-type or abca4(-/-) retinas. In contrast to RPE cells in abca4(-/-) mice, human RPE cells exposed to abca4(-/-) rod outer segments adaptively increased expression of both oxidative-stress and CRP genes. These results suggest that A2E accumulation causes oxidative stress, complement activation, and down-regulation of protective CRP in the Stargardt mouse model. Thus, Stargardt disease and age-related macular degeneration may both be caused by chronic inflammation of the RPE.

  15. Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes

    Science.gov (United States)

    Shimada, Yoshiaki; Horiguchi, Masayuki

    2016-01-01

    ABSTRACT Leber hereditary optic neuropathy (LHON) causes visual loss, predominantly in healthy young men. We recently examined a patient who previously had bilateral macular holes and subsequently developed LHON at 74 years of age. Although his central scotomas were initially attributed to the macular holes, his visual acuity declined following an initial improvement after operative closure of the macular holes; thus, other diagnoses, including LHON, were considered. Furthermore, macular optical coherence tomography (OCT) images remained unchanged in this time. A mitochondrial genetic analysis identified a 11778G→A mutation. From this case, we propose that LHON remains in the differential diagnosis even in older patients, as has previously been reported. PMID:27335507

  16. Gelatinous drop-like corneal dystrophy: a review.

    Science.gov (United States)

    Kaza, Hrishikesh; Barik, Manas R; Reddy, Mamatha M; Mittal, Ruchi; Das, Sujata

    2017-01-01

    Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive form of corneal dystrophy characterised by subepithelial and stromal amyloid deposits. It is relatively common in Japan. It usually presents in the first two decades of life with subepithelial nodular lesions that later coalesce to form mulberry-like opacities. Although various surgical modalities have been attempted, recurrence remains a major challenge.

  17. Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

    Directory of Open Access Journals (Sweden)

    Oriana del Rocío Cruz Guzmán

    2012-01-01

    Full Text Available Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies may be insulin resistance and obesity. However, only insulin resistance has been demonstrated in myotonic dystrophy. In addition, endocrine disturbances such as hypogonadism, low levels of testosterone, and growth hormone have been reported. This eventually will result in consequences such as growth failure and delayed puberty in the case of childhood dystrophies. Other consequences may be reduced male fertility, reduced spermatogenesis, and oligospermia, both in childhood as well as in adult muscular dystrophies. These facts all suggest that there is a need for better comprehension of metabolic and endocrine implications for muscular dystrophies with the purpose of developing improved clinical treatments and/or improvements in the quality of life of patients with dystrophy. Therefore, the aim of this paper is to describe the current knowledge about of metabolic and endocrine alterations in diverse types of dystrophinopathies, which will be divided into two groups: childhood and adult dystrophies which have different age of onset.

  18. Dysphagia is present but mild in myotonic dystrophy type 2

    NARCIS (Netherlands)

    R. Ensink; S. Knuijt; Baziel van Engelen; J. van Vliet; A. Tieleman; Bert de Swart

    2009-01-01

    The phenotype of myotonic dystrophy type 2 (DM2) shows similarities as well as differences to that of myotonic dystrophy type 1 (DM1). Dysphagia, a predominant feature in DM1, has not yet been examined in DM2. In a recent nationwide questionnaire survey of gastrointestinal symptoms in DM2, 12 out of

  19. Molecular mechanisms in muscular dystrophy : a gene expression profiling study.

    NARCIS (Netherlands)

    Turk, Rolf

    2006-01-01

    The muscular dystrophies are a group of neuromuscular disorders characterized by progres¬sive muscle weakness and wasting. Although the underlying genetic defects of a large number of muscular dystrophies are now know, the molecular mechanisms resulting in the devastating effects of the disease are

  20. Dysphagia is present but mild in myotonic dystrophy type 2.

    NARCIS (Netherlands)

    Tieleman, A.A.; Knuijt, S.; Vliet, J. van; Swart, B.J.M. de; Ensink, R.J.H.; Engelen, B.G.M. van

    2009-01-01

    The phenotype of myotonic dystrophy type 2 (DM2) shows similarities as well as differences to that of myotonic dystrophy type 1 (DM1). Dysphagia, a predominant feature in DM1, has not yet been examined in DM2. In a recent nationwide questionnaire survey of gastrointestinal symptoms in DM2, 12 out of

  1. Dysphagia is present but mild in myotonic dystrophy type 2

    NARCIS (Netherlands)

    Swart, Bert de; Tieleman, A.; Knuijt, S.; Vliet, J. van; Ensink, R.; Engelen, Baziel van

    2009-01-01

    The phenotype of myotonic dystrophy type 2 (DM2) shows similarities as well as differences to that of myotonic dystrophy type 1 (DM1). Dysphagia, a predominant feature in DM1, has not yet been examined in DM2. In a recent nationwide questionnaire survey of gastrointestinal symptoms in DM2, 12 out of

  2. Resistance training in patients with limb-girdle and becker muscular dystrophies

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Andersen, Søren P; Ingelsrud, Lina H;

    2013-01-01

    In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD).......In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD)....

  3. Management of pseudophakic cystoid macular edema.

    Science.gov (United States)

    Guo, Suqin; Patel, Shriji; Baumrind, Ben; Johnson, Keegan; Levinsohn, Daniel; Marcus, Edward; Tannen, Brad; Roy, Monique; Bhagat, Neelakshi; Zarbin, Marco

    2015-01-01

    Pseudophakic cystoid macular edema (PCME) is a common complication following cataract surgery. Acute PCME may resolve spontaneously, but some patients will develop chronic macular edema that affects vision and is difficult to treat. This disease was described more than 50 years ago, and there are multiple options for clinical management. We discuss mechanisms, clinical efficacy, and adverse effects of these treatment modalities. Topical non-steroidal anti-inflammatory agents and corticosteroids are widely used and, when combined, may have a synergistic effect. Intravitreal corticosteroids and anti-vascular endothelial growth factor (anti-VEGF) agents have shown promise when topical medications either fail or have had limited effects. Randomized clinical studies evaluating anti-VEGF agents are needed to fully evaluate benefits and risks. When PCME is either refractory to medical therapy or is associated with significant vitreous involvement, pars plana vitrectomy has been shown to improve outcomes, though it is associated with additional risks.

  4. Skin features in myotonic dystrophy type 1: an observational study.

    Science.gov (United States)

    Campanati, A; Giannoni, M; Buratti, L; Cagnetti, C; Giuliodori, K; Ganzetti, G; Silvestrini, M; Provinciali, L; Offidani, A

    2015-05-01

    Poor data regarding skin involvement in Myotonic Dystrophy, also named Dystrophia Myotonica type 1, have been reported. This study aimed to investigate the prevalence and types of skin disorders in adult patients with Myotonic Dystrophy type 1. Fifty-five patients and one hundred age- and sex-matched healthy subjects were referred to a trained dermatologist for a complete skin examination to check for potential cutaneous hallmarks of disease. No difference in prevalence of preneoplastic, neoplastic, and cutaneous lesions was detected between the two groups. Among morphofunctional, proliferative and inflammatory lesions, focal hyperhidrosis (p Myotonic Dystrophy type 1 significant differences according to sex were found for: early androgenic alopecia, twisted hair and seborrheic dermatitis, whose prevalence was higher in males (p Myotonic Dystrophy type 1. On the other hand, an increased prevalence of morphofunctional, inflammatory, and proliferative diseases involving adnexal structures seems to characterize adult patients with Myotonic Dystrophy type 1.

  5. [Treatment of retinal detachment with macular hole].

    Science.gov (United States)

    Pikulski, Z; Nawrocki, J; Dziegielewski, K

    1993-01-01

    The methods and results of surgery in 6 cases of retinal detachment with macular hole are presented. In all 6 cases pars plana vitrectomy was performed, in 4 with subsequent SF6 and in 2 with silicone oil tamponade. Retinal attachment was achieved in 4 eyes. Visual acuity 1/50-2/50 was found after surgery in 5 cases. The follow-up ranged from 6 to 9 months.

  6. Immunology of age related macular degeneration

    Institute of Scientific and Technical Information of China (English)

    Kijlstra Aize; Yang Peizeng

    2011-01-01

    @@ Age-related macular degeneration(AMD)is the most important cause of blindness in persons over 55 years of age in the Western world.In view of the increasing life expectancy we can assume that the problem will increase dramatically over the coming decades unless preventive or therapeutic measures are developed.Towards this goal many groups all over the world have performed epidemiological studies to identify potential risk factors for AMD.

  7. Depression in Age-Related Macular Degeneration

    OpenAIRE

    Casten,Robin; Rovner,Barry

    2008-01-01

    Age-related macular degeneration (AMD) is a major cause of disability in the elderly, substantially degrades the quality of their lives, and is a risk factor for depression. Rates of depression in AMD are substantially greater than those found in the general population of older people, and are on par with those of other chronic and disabling diseases. This article discusses the effect of depression on vision-related disability in patients with AMD, suggests methods for screening for depressio...

  8. Rehabilitation Approaches in Macular Degeneration Patients

    OpenAIRE

    Maniglia, Marcello; Benoit R Cottereau; Soler, Vincent; Trotter, Yves

    2016-01-01

    Age related macular degeneration (AMD) is a visual disease that affects elderly population. It entails a progressive loss of central vision whose consequences are dramatic for the patient’s quality of life. Current rehabilitation programs are restricted to technical aids based on visual devices. They only temporarily improve specific visual functions such as reading skills. Considering the rapid increase of the aging population worldwide, it is crucial to intensify clinical research on AMD in...

  9. Animal models of age related macular degeneration

    OpenAIRE

    Pennesi, Mark E.; Neuringer, Martha; Courtney, Robert J.

    2012-01-01

    Age related macular degeneration (AMD) is the leading cause of vision loss of those over the age of 65 in the industrialized world. The prevalence and need to develop effective treatments for AMD has lead to the development of multiple animal models. AMD is a complex and heterogeneous disease that involves the interaction of both genetic and environmental factors with the unique anatomy of the human macula. Models in mice, rats, rabbits, pigs and non-human primates have recreated many of the ...

  10. Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity?

    Science.gov (United States)

    Møller, H U

    1989-12-01

    This paper maintains that Reis-Bücklers' corneal dystrophy and granular corneal dystrophy Groenouw type I are one and the same disease. Included are some of the technically best photographs of Reis-Bücklers' dystrophy found in the literature, and these are compared with photographs from patients with granular corneal dystrophy examined by the author. It is argued that most of the histological and ultrastructural findings on Reis Bücklers' dystrophy described in the literature are either congruent with what is found in granular corneal dystrophy or unspecific.

  11. Current Treatments of Diabetic Macular Edema

    Directory of Open Access Journals (Sweden)

    Wei-Chun Chan

    2011-12-01

    Full Text Available Diabetic macular edema (DME is a major cause of visual impairment in diabetic patients. Laser photocoagulation is the standard management strategy for macular edema, but its results remain unsatisfactory. Several clinical trials of new treatment modalities for DME have been conducted over the past 10 years. We performed a literature search of English articles, published between 2000 and 2010, by using the PubMed database. The keywords searched included “diabetic macular edema and treatment” with limits set to include only clinical trials and review articles, over 50 articles were reviewed. Among the newer treatment modalities reviewed, therapy with anti-vascular endothelial growth factor (VEGF antibodies showed significantly better efficacy, with level I evidence. However, multiple injections were required to maintain its efficacy. Therefore, the associated complications and cost implications are the major limitations of this treatment. Several combinations of different modalities have been evaluated in the literature, but none are more efficacious than monotherapy with anti-VEGF antibodies. Since DME is a multifactorial disease, further studies involving combinations of modalities or new treatments modalities may be needed to reduce the number of injections required or improve the visual outcomes in case of DME.

  12. Visual hallucinations in patients with macular degeneration.

    Science.gov (United States)

    Holroyd, S; Rabins, P V; Finkelstein, D; Nicholson, M C; Chase, G A; Wisniewski, S C

    1992-12-01

    This study was undertaken to determine the prevalence of visual hallucinations in patients with macular degeneration, describe such hallucinations phenomenologically, and possibly determine factors predisposing to their development. Using a case-control design, the authors screened 100 consecutive patients with age-related macular degeneration for visual hallucinations. Each patient with visual hallucinations was matched to the next three patients without hallucinations. The patients and comparison subjects were compared in terms of scores on the Beck Depression Inventory, Eysenck Personality Questionnaire, Telephone Interview for Cognitive Status, and a structured questionnaire including demographic characteristics, family history, and medical and psychiatric history. Ophthalmologic data were obtained by chart review. Of the 100 patients, 13 experienced visual hallucinations. Four variables were significantly associated with having hallucinations: living alone, lower cognition score, history of stroke, and bilaterally worse visual acuity. Hallucinations were not associated with family or personal history of psychiatric disorder or with personality traits. In 11 (84.6%) of the 13 patients, the hallucinations had begun in association with an acute change in vision. These results indicate that visual hallucinations are prevalent among patients with macular degeneration. They appear unrelated to primary psychiatric disorder. The predisposing factors of bilaterally worse vision and living alone support an association with sensory deprivation, while history of stroke and worse cognition support a decreased cortical inhibition theory.

  13. First Identification of a Triple Corneal Dystrophy Association: Keratoconus, Epithelial Basement Membrane Corneal Dystrophy and Fuchs' Endothelial Corneal Dystrophy

    Directory of Open Access Journals (Sweden)

    Cosimo Mazzotta

    2014-09-01

    Full Text Available Purpose: To report the observation of a triple corneal dystrophy association consisting of keratoconus (KC, epithelial basement membrane corneal dystrophy (EBMCD and Fuchs' endothelial corneal dystrophy (FECD. Methods: A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. He reported bilateral recurrent corneal erosions with diurnal visual fluctuations. He underwent corneal biomicroscopy, Scheimpflug tomography, in vivo HRT confocal laser scanning microscopy and genetic testing for TGFBI and ZEB1 mutations using direct DNA sequencing. Results: Biomicroscopic examination revealed the presence of subepithelial central and paracentral corneal opacities. The endothelium showed a bilateral flecked appearance, and the posterior corneal curvature suggested a possible concomitant ectatic disorder. Corneal tomography confirmed the presence of a stage II KC in both eyes. In vivo confocal laser scanning microscopy revealed a concomitant bilateral EBMCD with hyperreflective deposits in basal epithelial cells, subbasal Bowman's layer microfolds and ridges with truncated subbasal nerves as pseudodendritic elements. Stromal analysis revealed honeycomb edematous areas, and the endothelium showed a strawberry surface configuration typical of FECD. The genetic analysis resulted negative for TGFBI mutations and positive for a heterozygous mutation in exon 7 of the gene ZEB1. Conclusion: This is the first case reported in the literature in which KC, EBMCD and FECD are present in the same patient and associated with ZEB1 gene mutation. The triple association was previously established by means of morphological analysis of the cornea using corneal Scheimpflug tomography and in vivo HRT II confocal laser scanning microscopy.

  14. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands : a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, EM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; Leschot, NJ; Van Essen, AJ; Brunner, HG; van der Wouw, PA; Wilde, AAM; de Visser, M

    1999-01-01

    Background Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of definit

  15. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands : a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, EM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; Leschot, NJ; Van Essen, AJ; Brunner, HG; van der Wouw, PA; Wilde, AAM; de Visser, Marianne

    1999-01-01

    Background Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy. Studies focusing on skeletal-muscle involvement were done before DNA analysis was possible. We undertook a cross-sectional study in a population of

  16. Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6

    Science.gov (United States)

    Yaylacioglu Tuncay, Fulya; Kayman Kurekci, Gülsüm; Guntekin Ergun, Sezen; Pasaoglu, Ozge Tugce; Akata, Rustu Fikret; Dincer, Pervin Rukiye

    2016-01-01

    Purpose To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). Methods In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations. The level of antigenic keratan sulfate (AgKS) in the serum samples of patients with MCD was determined with enzyme-linked immunosorbent assay (ELISA) to immunophenotypically subtype the patients as MCD type I and MCD type II. DNA was isolated from venous blood samples from the patients and controls. Variations were analyzed with DNA sequencing in the coding region of CHST6 in patients with MCD and exons 4 and 12 in TGFBI in patients with LCD1 and GCD1. Clinical characteristics and the detected variations were evaluated to determine any existing genotype–phenotype correlations. Results The previously reported R555W mutation in TGFBI was detected in 12 patients with GCD1, and the R124C mutation in TGFBI was detected in four patients with LCD1. Serum AgKS levels indicated that 12 patients with MCD were in subgroup I, and five patients with MCD were in subgroup II. No genetic variation was detected in the coding region of CHST6 for three patients with MCD type II. In other patients with MCD, three previously reported missense variations (c. 1A>T, c.738C>G, and c.631 C>T), three novel missense variations (c.164 T>C, c.526 G>A, c. 610 C>T), and two novel frameshift variations (c.894_895 insG and c. 462_463 delGC) were detected. These variations did not exist in the control chromosomes, 1000 Genomes, and dbSNP. Conclusions This is the first molecular analysis of TGFBI and CHST6 in Turkish patients with different types of CD. We detected previously reported, well-known hot spot mutations in TGFBI in the patients with GCD1

  17. Noncoding RNAs: Emerging Players in Muscular Dystrophies

    Directory of Open Access Journals (Sweden)

    Germana Falcone

    2014-01-01

    Full Text Available The fascinating world of noncoding RNAs has recently come to light, thanks to the development of powerful sequencing technologies, revealing a variety of RNA molecules playing important regulatory functions in most, if not all, cellular processes. Many noncoding RNAs have been implicated in regulatory networks that are determinant for skeletal muscle differentiation and disease. In this review, we outline the noncoding RNAs involved in physiological mechanisms of myogenesis and those that appear dysregulated in muscle dystrophies, also discussing their potential use as disease biomarkers and therapeutic targets.

  18. A molecular protocol for diagnosing myotonic dystrophy.

    Science.gov (United States)

    Guida, M; Marger, R S; Papp, A C; Snyder, P J; Sedra, M S; Kissel, J T; Mendell, J R; Prior, T W

    1995-01-01

    Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene. The CTG repeat is present 5-30 times in the normal population, whereas DM patients have CTG expansions of 50 to several thousand repeats. The age of onset of the disorder and the severity of the phenotype is roughly correlated with the size of the CTG expansion. We developed a molecular protocol for the diagnosis of DM based on an initial polymerase chain reaction screen to detect normal-sized alleles and small expansions, followed by an improved Southern protocol to detect larger expansions.

  19. Acute effect of pure oxygen breathing on diabetic macular edema

    DEFF Research Database (Denmark)

    Vinten, Carl Martin; La Cour, Morten; Lund-Andersen, Henrik

    2012-01-01

    Purpose. A small-scale pilot study of the pathophysiology of diabetic macular edema (DME) was made by assessing concomitant changes in macular volume (MV), mean arterial blood pressure (MABP), intraocular pressure (IOP), retinal artery diameter (RAD), and retinal vein diameter (RVD) in response t...

  20. Spontaneous closure of macular hole following blunt trauma

    Directory of Open Access Journals (Sweden)

    Clovis Arcoverde Freitas-Neto

    2016-01-01

    Full Text Available Ocular trauma can result in macular hole and it can lead to complete loss of central vision. We are reporting a case of traumatic macular hole associated with retinal hemorrhages and choroidal ruptures with spontaneous resolution and total vision recovery.

  1. Acute effect of pure oxygen breathing on diabetic macular edema

    DEFF Research Database (Denmark)

    Vinten, Carl Martin; La Cour, Morten; Lund-Andersen, Henrik;

    2012-01-01

    Purpose. A small-scale pilot study of the pathophysiology of diabetic macular edema (DME) was made by assessing concomitant changes in macular volume (MV), mean arterial blood pressure (MABP), intraocular pressure (IOP), retinal artery diameter (RAD), and retinal vein diameter (RVD) in response...

  2. Quantification of metamorphopsia in patients with macular hole

    DEFF Research Database (Denmark)

    Kroyer, K.; Christensen, U.; Larsen, M.;

    2008-01-01

    .001). CONCLUSIONS. The level of metamorphopsia declined as a function of eccentricity and affected the central 10 of visual field. Macular hole size had an independent effect on interocular disparity. These results confirm reports that visuospatial distortion in the presence of macular hole is primarily the result...

  3. Prevalence of age-related macular degeneration in elderly Caucasians

    DEFF Research Database (Denmark)

    Erke, Maja G; Bertelsen, Geir; Peto, Tunde;

    2012-01-01

    To describe the sex- and age-specific prevalence of drusen, geographic atrophy, and neovascular age-related macular degeneration (AMD).......To describe the sex- and age-specific prevalence of drusen, geographic atrophy, and neovascular age-related macular degeneration (AMD)....

  4. Enhanced depth imaging optical coherence tomography and fundus autofluorescence findings in bilateral choroidal osteoma: a case report

    Directory of Open Access Journals (Sweden)

    Muhammet Kazim Erol

    2013-06-01

    Full Text Available The authors present enhanced depth imaging optical coherence tomography (EDI OCT and fundus autofluorescence (FAF characteristics of a patient with bilateral choroidal osteoma and try to make a correlation between two imaging techniques. Two eyes of a patient with choroidal osteoma underwent complete ophthalmic examination. Enhanced depth imaging optical coherence tomography revealed a cage-like pattern, which corresponded to the calcified region of the tumor. Fundus autofluorescence imaging of the same area showed slight hyperautofluorescence. Three different reflectivity patterns in the decalcified area were defined. In the areas of subretinal fluid, outer segment elongations similar to central serous chorioretinopathy were observed. Hyperautofluorescent spots were evident in fundus autofluorescence in the same area. Calcified and decalcified portions of choroidal osteoma as well as the atrophy of choriocapillaris demonstrated different patterns with enhanced depth imaging and fundus autofluorescence imaging. Both techniques were found to be beneficial in the diagnosis and follow-up of choroidal osteoma.

  5. Enhanced depth imaging optical coherence tomography and fundus autofluorescence findings in bilateral choroidal osteoma: a case report.

    Science.gov (United States)

    Erol, Muhammet Kazim; Coban, Deniz Turgut; Ceran, Basak Bostanci; Bulut, Mehmet

    2013-01-01

    The authors present enhanced depth imaging optical coherence tomography (EDI OCT) and fundus autofluorescence (FAF) characteristics of a patient with bilateral choroidal osteoma and try to make a correlation between two imaging techniques. Two eyes of a patient with choroidal osteoma underwent complete ophthalmic examination. Enhanced depth imaging optical coherence tomography revealed a cage-like pattern, which corresponded to the calcified region of the tumor. Fundus autofluorescence imaging of the same area showed slight hyperautofluorescence. Three different reflectivity patterns in the decalcified area were defined. In the areas of subretinal fluid, outer segment elongations similar to central serous chorioretinopathy were observed. Hyperautofluorescent spots were evident in fundus autofluorescence in the same area. Calcified and decalcified portions of choroidal osteoma as well as the atrophy of choriocapillaris demonstrated different patterns with enhanced depth imaging and fundus autofluorescence imaging. Both techniques were found to be beneficial in the diagnosis and follow-up of choroidal osteoma.

  6. Enhanced depth imaging optical coherence tomography and fundus autofluorescence findings in bilateral choroidal osteoma: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Erol, Muhammet Kazim; Coban, Deniz Turgut; Ceran, Basak Bostanci; Bulut, Mehmet, E-mail: muhammetkazimerol@gmail.com [Kazim Erol. Antalya Training and Research Hospital, Ophthalmology Department, Antalya (Turkey)

    2013-11-01

    The authors present enhanced depth imaging optical coherence tomography (EDI OCT) and fundus autofluorescence (FAF) characteristics of a patient with bilateral choroidal osteoma and try to make a correlation between two imaging techniques. Two eyes of a patient with choroidal osteoma underwent complete ophthalmic examination. Enhanced depth imaging optical coherence tomography revealed a cage-like pattern, which corresponded to the calcified region of the tumor. Fundus autofluorescence imaging of the same area showed slight hyperautofluorescence. Three different reflectivity patterns in the decalcified area were defined. In the areas of subretinal fluid, outer segment elongations similar to central serous chorioretinopathy were observed. Hyperautofluorescent spots were evident in fundus autofluorescence in the same area. Calcified and decalcified portions of choroidal osteoma as well as the atrophy of choriocapillaris demonstrated different patterns with enhanced depth imaging and fundus autofluorescence imaging. Both techniques were found to be beneficial in the diagnosis and follow-up of choroidal osteoma. (author)

  7. Investigating the influence of chromatic aberration and optical illumination bandwidth on fundus imaging in rats

    Science.gov (United States)

    Li, Hao; Liu, Wenzhong; Zhang, Hao F.

    2015-10-01

    Rodent models are indispensable in studying various retinal diseases. Noninvasive, high-resolution retinal imaging of rodent models is highly desired for longitudinally investigating the pathogenesis and therapeutic strategies. However, due to severe aberrations, the retinal image quality in rodents can be much worse than that in humans. We numerically and experimentally investigated the influence of chromatic aberration and optical illumination bandwidth on retinal imaging. We confirmed that the rat retinal image quality decreased with increasing illumination bandwidth. We achieved the retinal image resolution of 10 μm using a 19 nm illumination bandwidth centered at 580 nm in a home-built fundus camera. Furthermore, we observed higher chromatic aberration in albino rat eyes than in pigmented rat eyes. This study provides a design guide for high-resolution fundus camera for rodents. Our method is also beneficial to dispersion compensation in multiwavelength retinal imaging applications.

  8. Optic neuritis is associated with inner nuclear layer thickening and microcystic macular edema independently of multiple sclerosis.

    Directory of Open Access Journals (Sweden)

    Falko Kaufhold

    Full Text Available BACKGROUND: Microcystic macular edema (MME and inner nuclear layer thickening (INL were described in multiple sclerosis (MS and neuromyelitis optica (NMO patients using optical coherence tomography (OCT. The cause of these findings is currently unknown and a relation to inflammatory or degenerative processes in the optic nerve is discussed. OBJECTIVE: The aim of our study was to investigate whether INL thickening and MME are related to optic neuritis (ON in various neuro-inflammatory disorders causingON: MS, NMO and chronic inflammatory optic neuropathy. METHODS: We retrospectively analyzed data from 216 MS patients, 39 patients with a clinically isolated syndrome, 20 NMO spectrum disorder patients, 9 patients with chronic inflammatory optic neuropathy and 121 healthy subjects. Intra-retinal layer segmentation was performed for the eyes of patients with unilateral ON. Scanning laser ophthalmoscopy (SLO images were reviewed for characteristic ocular fundus changes. RESULTS: Intra-retinal layer segmentation showed that eyes with a history of ON displayed MME independent INL thickening compared to contralateral eyes without previous ON. MME was detected in 22 eyes from 15 patients (5.3% of all screened patients, including 7 patients with bilateral edema. Of these, 21 had a prior history of ON (95%. The SLO images of all 22 MME-affected eyes showed crescent-shaped texture changes which were visible in the perifoveal region. A second grader who was blinded to the results of the OCT classified all SLO images for the presence of these characteristic fundus changes. All MME eyes were correctly classified (sensitivity = 100% with high specificity (95.2%. CONCLUSION: This study shows that both MME and INL thickening occur in various neuro-inflammatory disorders associated with ON. We also demonstrate that detection and analysis of MME by OCT is not limited to B-scans, but also possible using SLO images.

  9. Detection of Glaucomatous Eye via Color Fundus Images Using Fractal Dimensions

    Directory of Open Access Journals (Sweden)

    J. Jan

    2008-09-01

    Full Text Available This paper describes a method for glaucomatous eye detection based on fractal description, followed by classification. Two methods for fractal dimensions estimation, which give a different image/tissue description, are presented. The fundus color images are used, in which the areas with retinal nerve fibers are analyzed. The presented method shows that fractal dimensions can be used as features for retinal nerve fibers losses detection, which is a sign of glaucomatous eye.

  10. The investigation of chromatic aberration correction for digital eye fundus images

    OpenAIRE

    Jakstys, V.; Marcinkevicius, V.; Treigys, P.

    2016-01-01

    This paper focuses on the lateral chromatic aberration correction in images captured with Optomed SmartScope M5 camera. This portable non-mydriatic eye fundus orbital camera does not have chromatic lenses. When photo camera system is designed without chromatic lenses, it is necessary to apply image processing algorithms for lateral chromatic aberration effect correction. These algorithms try to scale the fringed colour channels so that all channels spatially overlap each other ...

  11. Influence of antioxidant depletion on nitrergic relaxation in the pig gastric fundus

    OpenAIRE

    2002-01-01

    The hypothesis that endogenous tissue antioxidants might explain the inability of the superoxide generators 6-anilino-5,8-quinolinedione (LY83583) and hydroquinone (HQ) and of the NO-scavengers hydroxocobalamin (HC) and 2-(4-carboxyphenyl)-4,4,5,5-tetramethylimidazoline-1-oxyl-3-oxide (c-PTIO) to affect nitrergic neurotransmission in the porcine gastric fundus was tested by selective pharmacological depletion of respectively Cu/Zn superoxide dismutase (Cu/Zn SOD) and reduced glutathione (GSH)...

  12. Joint optic disc and cup boundary extraction from monocular fundus images.

    Science.gov (United States)

    Chakravarty, Arunava; Sivaswamy, Jayanthi

    2017-08-01

    Accurate segmentation of optic disc and cup from monocular color fundus images plays a significant role in the screening and diagnosis of glaucoma. Though optic cup is characterized by the drop in depth from the disc boundary, most existing methods segment the two structures separately and rely only on color and vessel kink based cues due to the lack of explicit depth information in color fundus images. We propose a novel boundary-based Conditional Random Field formulation that extracts both the optic disc and cup boundaries in a single optimization step. In addition to the color gradients, the proposed method explicitly models the depth which is estimated from the fundus image itself using a coupled, sparse dictionary trained on a set of image-depth map (derived from Optical Coherence Tomography) pairs. The estimated depth achieved a correlation coefficient of 0.80 with respect to the ground truth. The proposed segmentation method outperformed several state-of-the-art methods on five public datasets. The average dice coefficient was in the range of 0.87-0.97 for disc segmentation across three datasets and 0.83 for cup segmentation on the DRISHTI-GS1 test set. The method achieved a good glaucoma classification performance with an average AUC of 0.85 for five fold cross-validation on RIM-ONE v2. We propose a method to jointly segment the optic disc and cup boundaries by modeling the drop in depth between the two structures. Since our method requires a single fundus image per eye during testing it can be employed in the large-scale screening of glaucoma where expensive 3D imaging is unavailable. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Diagnostic accuracy and use of nonmydriatic ocular fundus photography by emergency physicians: phase II of the FOTO-ED study.

    Science.gov (United States)

    Bruce, Beau B; Thulasi, Praneetha; Fraser, Clare L; Keadey, Matthew T; Ward, Antoinette; Heilpern, Katherine L; Wright, David W; Newman, Nancy J; Biousse, Valérie

    2013-07-01

    During the first phase of the Fundus Photography vs Ophthalmoscopy Trial Outcomes in the Emergency Department study, 13% (44/350; 95% confidence interval [CI] 9% to 17%) of patients had an ocular fundus finding, such as papilledema, relevant to their emergency department (ED) management found by nonmydriatic ocular fundus photography reviewed by neuro-ophthalmologists. All of these findings were missed by emergency physicians, who examined only 14% of enrolled patients by direct ophthalmoscopy. In the present study, we evaluate the sensitivity of nonmydriatic ocular fundus photography, an alternative to direct ophthalmoscopy, for relevant findings when photographs are made available for use by emergency physicians during routine clinical care. Three hundred fifty-four patients presenting to our ED with headache, focal neurologic deficit, visual change, or diastolic blood pressure greater than or equal to 120 mm Hg had nonmydriatic fundus photography obtained (Kowa nonmydriatic α-D). Photographs were placed on the electronic medical record for emergency physician review. Identification of relevant findings on photographs by emergency physicians was compared with a reference standard of neuro-ophthalmologist review. Emergency physicians reviewed photographs of 239 patients (68%). Thirty-five patients (10%; 95% CI 7% to 13%) had relevant findings identified by neuro-ophthalmologist review (6 disc edema, 6 grade III/IV hypertensive retinopathy, 7 isolated hemorrhages, 15 optic disc pallor, and 1 retinal vascular occlusion). Emergency physicians identified 16 of 35 relevant findings (sensitivity 46%; 95% CI 29% to 63%) and also identified 289 of 319 normal findings (specificity 91%; 95% CI 87% to 94%). Emergency physicians reported that photographs were helpful for 125 patients (35%). Emergency physicians used nonmydriatic fundus photographs more frequently than they performed direct ophthalmoscopy, and their detection of relevant abnormalities improved. Ocular fundus

  14. Effect of macular photocoagulation on visual acuity of Omani patients with clinically significant macular edema

    Directory of Open Access Journals (Sweden)

    Zafar A Zaidi

    2009-01-01

    Full Text Available Background: The aim of this study was to determine the effect of macular laser treatment on the visual acuity (VA of Omani diabetic patients with clinically significant macular edema (CSME. Visual outcome was also correlated with duration and control of diabetes and presence or absence of hypertension and hyperlipidemia. Materials and Methods: This is a retrospective noncomparative cohort study involving 101 eyes of 72 Omani diabetic patients. Change in VA was determined using Snellen′s VA chart. The mean duration of follow-up was approximately 21 months (range, 16-24 months. Results: 29.7% of the patients maintained their vision, 35.6% showed improvement, whereas 34.7% showed a decrease in their vision. Positive visual outcome showed a statistically significant direct relationship with tight control of diabetes and absence of hypertension and an inverse relationship with the duration of diabetes. Presence of hyperlipedemia did not show a statistically significant relationship with positive visual outcome. However, it showed a trend to better visual outcome in the absence of hyperlipedemia. Peak incidence of macular edema was seen at the age of 52.3 years. Conclusion: Macular photocoagulation was found to be an effective method of treatment for CSME among Omani diabetic patients, which has resulted in a positive visual outcome in 65.3% of the patients (stable and improved vision. Effective control of diabetes, duration of diabetes, and hypertension are the factors which influence the postlaser visual outcome.

  15. Urinary albumin excretion rate: a risk factor for retinal hard exudates in macular region in type 2 diabetic patients

    Institute of Scientific and Technical Information of China (English)

    Wang Shaocheng; Lin Siyong; Cao Xi; Zheng Yuezhong; Wang Jinyang; Lu Na; Yang Jinkui

    2014-01-01

    Background The various risk factors for retinal hard exudates are still poorly understood in type 2 diabetic patients.The aim of this study was to determine the association between urinary albumin excretion rate (UAER) and hard exudates in macular region in north Chinese patients.Methods A total of 272 patients (272 eyes) were enrolled for this study,including 154 subjects from group 1 (mild hard exudates),91 subjects from group 2 (moderate hard exudates) and 27 subjects from group 3 (severe hard exudates) confirmed using colour fundus photography,optical coherence tomography (OCT) as well as slit-lamp biomicroscopy with 78 diopter (D) lens.Each participant underwent a comprehensive assessment that included biochemical,clinical characteristics test and detailed ophthalmic evaluation.One-way analysis of variance (ANOVA) test and chi-square test were performed to analyze the fasting blood glucose (FBG),glycated hemoglobin (HbA1c),total cholesterol (TC),low density lipoprotein (LDL),high density lipoprotein (HDL),triglycerides (TG),full blood counts,urinary albumin excretion rate (UAER),blood creatinine (CREA),duration of diabetes,body mass index (BMI),systolic blood pressures (SBP) and diastolic blood pressures (DBP) between groups.Ordinal logistic regression analysis was further performed in order to eliminating the possible confounding factors.Results Three groups were matched in terms of age and gender.Risk factors which showed significant difference between groups include FBG (P <0.001),HbA1c (P <0.001),LDL (P <0.001),UAER (P <0.001),duration of diabetes (P=0.001),TC (P=0.005),SBP (P=0.026),CREA (P=0.004) and haemoglobin (Hb) (P=0.012).There was no significant difference between groups for the TG,HDL,DBP,platelet,total white blood cells and BMI.Using ordinal Logistic regression analyses,of all the variables,HbA1c,LDL and UAER which were independent risk factor for hard exudates showed a significantly odds ratio of 1.25,3.07,and 1.39,respectively

  16. Method for Calculating the Optical Diffuse Reflection Coefficient for the Ocular Fundus

    Science.gov (United States)

    Lisenko, S. A.; Kugeiko, M. M.

    2016-07-01

    We have developed a method for calculating the optical diffuse reflection coefficient for the ocular fundus, taking into account multiple scattering of light in its layers (retina, epithelium, choroid) and multiple refl ection of light between layers. The method is based on the formulas for optical "combination" of the layers of the medium, in which the optical parameters of the layers (absorption and scattering coefficients) are replaced by some effective values, different for cases of directional and diffuse illumination of the layer. Coefficients relating the effective optical parameters of the layers and the actual values were established based on the results of a Monte Carlo numerical simulation of radiation transport in the medium. We estimate the uncertainties in retrieval of the structural and morphological parameters for the fundus from its diffuse reflectance spectrum using our method. We show that the simulated spectra correspond to the experimental data and that the estimates of the fundus parameters obtained as a result of solving the inverse problem are reasonable.

  17. Effect of lymphadenectomy extent on advanced gastric cancer located in the cardia and fundus

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    AIM: To analyze the prognostic impact of lymphade- nectomy extent in advanced gastric cancer located in the cardia and fundus. METHODS: Two hundred and thirty-six patients with advanced gastric cancer located in the cardia and fundus who underwent D2 curative resection were analyzed retrospectively. Relationships between the numbers of lymph nodes (iNs) dissected and survival was analyzed among different clinical stage subgroups. RESULTS: The 5-year overall survival rate of the entire cohort was 37.5%. Multivariate prognostic variables were total LNs dissected (P<0.0001; or number of negative LNs examined, P<0.0001), number of positive INs (P < 0.0001), T category (P < 0.0001) and tumor size (P=0.015). The greatest survival differences were observed at cutoff values of 20 INs resected for stage II (P = 0.0136), 25 for stage III (P < 0.0001), 30 for stage IV (P = 0.0002), and 15 for all patients (P = 0.0024). Based on the statistically assumed linearity as best fit, linear regression showed a significant survival enhancement based on increasing negative INs for patients of stages III (P = 0.013) and IV (P = 0.035). CONCLUSION: To improve the long-term survival of patients with advanced gastric cancer located in the cardia and fundus, removing at least 20 INs for stage II, 25 INs for stage III, and 30 INs for stage 1V patients during D2 radical dissection is recommended.

  18. Detection of retinal nerve fiber layer defects in retinal fundus images using Gabor filtering

    Science.gov (United States)

    Hayashi, Yoshinori; Nakagawa, Toshiaki; Hatanaka, Yuji; Aoyama, Akira; Kakogawa, Masakatsu; Hara, Takeshi; Fujita, Hiroshi; Yamamoto, Tetsuya

    2007-03-01

    Retinal nerve fiber layer defect (NFLD) is one of the most important findings for the diagnosis of glaucoma reported by ophthalmologists. However, such changes could be overlooked, especially in mass screenings, because ophthalmologists have limited time to search for a number of different changes for the diagnosis of various diseases such as diabetes, hypertension and glaucoma. Therefore, the use of a computer-aided detection (CAD) system can improve the results of diagnosis. In this work, a technique for the detection of NFLDs in retinal fundus images is proposed. In the preprocessing step, blood vessels are "erased" from the original retinal fundus image by using morphological filtering. The preprocessed image is then transformed into a rectangular array. NFLD regions are observed as vertical dark bands in the transformed image. Gabor filtering is then applied to enhance the vertical dark bands. False positives (FPs) are reduced by a rule-based method which uses the information of the location and the width of each candidate region. The detected regions are back-transformed into the original configuration. In this preliminary study, 71% of NFLD regions are detected with average number of FPs of 3.2 per image. In conclusion, we have developed a technique for the detection of NFLDs in retinal fundus images. Promising results have been obtained in this initial study.

  19. Fully automatic algorithm for the analysis of vessels in the angiographic image of the eye fundus

    Directory of Open Access Journals (Sweden)

    Koprowski Robert

    2012-06-01

    Full Text Available Abstract Background The available scientific literature contains descriptions of manual, semi-automated and automated methods for analysing angiographic images. The presented algorithms segment vessels calculating their tortuosity or number in a given area. We describe a statistical analysis of the inclination of the vessels in the fundus as related to their distance from the center of the optic disc. Methods The paper presents an automated method for analysing vessels which are found in angiographic images of the eye using a Matlab implemented algorithm. It performs filtration and convolution operations with suggested masks. The result is an image containing information on the location of vessels and their inclination angle in relation to the center of the optic disc. This is a new approach to the analysis of vessels whose usefulness has been confirmed in the diagnosis of hypertension. Results The proposed algorithm analyzed and processed the images of the eye fundus using a classifier in the form of decision trees. It enabled the proper classification of healthy patients and those with hypertension. The result is a very good separation of healthy subjects from the hypertensive ones: sensitivity - 83%, specificity - 100%, accuracy - 96%. This confirms a practical usefulness of the proposed method. Conclusions This paper presents an algorithm for the automatic analysis of morphological parameters of the fundus vessels. Such an analysis is performed during fluorescein angiography of the eye. The presented algorithm automatically calculates the global statistical features connected with both tortuosity of vessels and their total area or their number.

  20. Fully automatic algorithm for the analysis of vessels in the angiographic image of the eye fundus.

    Science.gov (United States)

    Koprowski, Robert; Teper, Sławomir Jan; Węglarz, Beata; Wylęgała, Edward; Krejca, Michał; Wróbel, Zygmunt

    2012-06-22

    The available scientific literature contains descriptions of manual, semi-automated and automated methods for analysing angiographic images. The presented algorithms segment vessels calculating their tortuosity or number in a given area. We describe a statistical analysis of the inclination of the vessels in the fundus as related to their distance from the center of the optic disc. The paper presents an automated method for analysing vessels which are found in angiographic images of the eye using a Matlab implemented algorithm. It performs filtration and convolution operations with suggested masks. The result is an image containing information on the location of vessels and their inclination angle in relation to the center of the optic disc. This is a new approach to the analysis of vessels whose usefulness has been confirmed in the diagnosis of hypertension. The proposed algorithm analyzed and processed the images of the eye fundus using a classifier in the form of decision trees. It enabled the proper classification of healthy patients and those with hypertension. The result is a very good separation of healthy subjects from the hypertensive ones: sensitivity - 83%, specificity - 100%, accuracy - 96%. This confirms a practical usefulness of the proposed method. This paper presents an algorithm for the automatic analysis of morphological parameters of the fundus vessels. Such an analysis is performed during fluorescein angiography of the eye. The presented algorithm automatically calculates the global statistical features connected with both tortuosity of vessels and their total area or their number.