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Sample records for pseudoinflammatory macular dystrophy

  1. Benign concentric annular macular dystrophy

    Directory of Open Access Journals (Sweden)

    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.

  2. Keratoconus in Patients with Macular Stromal Dystrophy.

    Science.gov (United States)

    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.

  3. Macular flicker electroretinograms in Best vitelliform dystrophy.

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    Falsini, B; Porciatti, V; Porrello, G; Merendino, E; Minnella, A; Cermola, S; Buzzonetti, L

    1996-06-01

    The aim of this study was to evaluate the function of the neurosensory retina in Best vitelliform macular dystrophy (BMD) by recording the focal electroretinogram (ERG) fundamental and 2nd harmonic components, which are known to be dominated by receptoral and postreceptoral activity, respectively. FERGs were recorded in response to a uniform field (9 x 9 deg) flickered sinusoidally at either 8 Hz or 32 Hz (peak frequencies for the 2nd and fundamental harmonic, respectively). The fundamental component of the response to the 32-Hz stimulus and the 2nd harmonic of the response to the 8-Hz stimulus were measured in their amplitudes and phases. The fundamental-2nd harmonic amplitude ratio was taken as an index of the relative changes in the FERG components. Eleven patients with BMD and vitelliform stage macular lesions were evaluated. Results were compared with those obtained from 13 patients with Type 2 Stargardt macular dystrophy (STD) according to the Noble and Carr Classification, and 29 normal control subjects. Four BMD and four STD patients were also followed electrophysiologically over a 48 month period. Compared to controls, BMD patients showed losses of both FERG fundamental and 2nd harmonic amplitudes, and an increase in the fundamental and increase in the fundamental-2nd harmonic ratio. STD patients also showed losses of both fundamental and 2nd harmonic, but the fundamental-2nd harmonic ratio was normal. In BMD patients, but not in those with STD, the fundamental amplitude tended to decrease over the follow-up period. The results indicate that BMD involves neurosensory abnormalities early in the disease process. The increased fundamental-2nd harmonic ratio suggests that a postreceptoral dysfunction may be present in addition to that of photoreceptors. This differs from STD, where losses appear to affect primarily the receptoral retina. Receptoral losses in BMD may progress throughout the medium-term follow up.

  4. Clinical and molecular genetic analysis of best vitelliform macular dystrophy.

    NARCIS (Netherlands)

    Boon, C.J.F.; Theelen, T.; Hoefsloot, L.H.; Schooneveld, M.J. van; Keunen, J.E.E.; Cremers, F.P.M.; Klevering, B.J.; Hoyng, C.B.

    2009-01-01

    PURPOSE: To describe the phenotype of Best vitelliform macular dystrophy (BVMD) and to evaluate genotype-phenotype and histopathologic correlations. METHODS: Retrospective analysis of patients with BVMD who underwent an extensive ophthalmic examination, including best-corrected Snellen visual

  5. THE EXPANDING CLINICAL SPECTRUM OF CHOROIDAL EXCAVATION IN MACULAR DYSTROPHIES.

    Science.gov (United States)

    Battaglia Parodi, Maurizio; Casalino, Giuseppe; Iacono, Pierluigi; Introini, Ugo; Adamyan, Tatevik; Bandello, Francesco

    2017-08-09

    To assess the prevalence and the clinical course of focal choroidal excavation (FCE) in patients affected by macular dystrophies. Prospective case series. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography. The presence of choroidal neovascularization (CNV) was assessed on the basis of the leakage detected on fluorescein angiography. A total of 162 eyes from 81 patients with macular dystrophy were included in the study. FCE was diagnosed in seven eyes (4.3% of the eyes), including four eyes with Best vitelliform dystrophy, two eyes with pattern dystrophy associated with pseudoxanthoma elasticum, and one case of Stargardt disease. In eyes with FCE and macular dystrophy, the mean best-corrected visual acuity was 0.4 ± 0.1 logarithm of the minimum angle of resolution (approximately corresponding to 20/50 Snellen equivalent) at baseline and was stable to 0.41 ± 0.1 logarithm of the minimum angle of resolution (approximately corresponding to 20/50 Snellen equivalent) at the final visit. In four of these seven eyes, FCE was associated with a subfoveal CNV. The CNV was managed with one intravitreal anti-vascular endothelial growth factor injection, achieving the complete anatomical stabilization of the CNV and recovery of the best-corrected visual acuity. Focal choroidal excavation can be infrequently encountered in patients with macular dystrophies. The presence of CNV may complicate FCE in these patients, and anti-vascular endothelial growth factor seems to be an effective treatment with no progression of FCE over time.

  6. Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report.

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    Esfahani, Mohammad Riazi; Esfahani, Hamid Riazi; Mahmoudi, Alireza; Johari, Mohammad Karim; Hemati, Karim

    2015-05-01

    Focal choroidal excavation (FCE) was first reported as a choroidal posteriorly excavated zone without any scleral change. Choroidal excavation also divided into conforming and nonconforming type. Numerous reports demonstrated association between FCE and other disease such as choroidal neovascularization and central serous choroidoretinopathy. Here, we report a rare case of FCE in a patient with Best disease. The patient was diagnosed by spectoral domain optical coherence tomography (SD-OCT). To the best of our knowledge, our patient is the second report of choroidal excavation in Best vitelliform macular dystrophy.

  7. Laser-Induced Photic Injury Phenocopies Macular Dystrophy.

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    Zhang, Lijuan; Zheng, Andrew; Nie, Hongping; Bhavsar, Kavita V; Xu, Yu; Sliney, David H; Trokel, Stephen L; Tsang, Stephen H

    2016-01-01

    To describe the phenotypes associated with laser-induced retinal damage in children. Five patients with maculopathy and reduced visual acuity associated with laser pointer use were evaluated. Best-corrected visual acuity, retinal structure, and function were monitored with color fundus, infrared (IR), and red-free images, fundus autofluorescence (AF), spectral domain-optical coherence tomography (SD-OCT), and full-field electroretinography (ERG). All five laser pointer injury patients had retinal lesions resembling a macular dystrophy (one bilateral and four unilateral). These lesions were irregular in shape but all had a characteristic dendritic appearance with linear streaks radiating from the lesion. Photoreceptor damage was present in all patients, but serial OCT monitoring showed that subsequent photoreceptor recovery occurred over time in the eyes of at least four patients. One patient also had bilateral pigment epithelial detachments (PED). Both hyper- and hypoautofluorecence were observed in the laser damage area. In general, OCT and IR images are quite useful to diagnose laser damage, but AF is not as sensitive. Laser pointer damage in children can occasionally be misdiagnosed as a macular dystrophy disease, but the distinctive lesions and OCT features are helpful for differentiating laser damage from other conditions.

  8. Dome-shaped macula associated with Best vitelliform macular dystrophy.

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    Battaglia Parodi, Maurizio; Zucchiatti, Ilaria; Fasce, Francesco; Cascavilla, Maria Lucia; Cicinelli, Maria Vittoria; Bandello, Francesco

    2015-01-01

    Dome-shaped macula (DSM) has been described recently as an inward convexity of the macula typical of myopic eyes detectable on spectral-domain optical coherence tomography (SD-OCT). The authors describe a case of monolateral DSM associated with Best vitelliform macular dystrophy (VMD). Case report. A 60-year-old man already diagnosed with VMD in vitelliruptive stage underwent SD-OCT that revealed the typical vitelliform material accumulation associated in the left eye with a convex elevation of the macula. No change was registered over a 1-year follow-up. This is the first report describing a monolateral DSM associated with VMD. Dome-shaped macula could be considered as a nonspecific scleral alteration, probably due to increased scleral thickness, which can accompany many retinal disorders.

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

    Directory of Open Access Journals (Sweden)

    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

  10. 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 wi...

  11. Outcomes of Penetrating Keratoplasty for Macular Corneal Dystrophy

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    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

  12. Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family

    OpenAIRE

    Yu-He Qi; Feng-Juan Gao; Fang-Yuan Hu; Sheng-Hai Zhang; Jun-Yi Chen; Wan-Jing Huang; Guo-Hong Tian; Min Wang; De-Kang Gan; Ji-Hong Wu; Ge-Zhi Xu

    2017-01-01

    Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy.Methods: In the current study, we comprehensively screened 130 genes involved in common inherited non-syndromic eye diseases with next-generation sequencing-based target capture sequencing of the proband of a four-generation Chinese family that has suffered from maculopathy without a definitive diagnosis for over 10 years. Varian...

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

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    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

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

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    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.

  15. Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.

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    Parodi, Maurizio Battaglia; Iacono, Pierluigi; Del Turco, Claudia; Bandello, Francesco

    2014-12-01

    To describe fundus autofluorescence (FAF) on short-wavelength FAF and near-infrared FAF in the subclinical form of Best vitelliform macular dystrophy. Cross-sectional prospective study. Patients affected by the subclinical form of Best vitelliform macular dystrophy (positive testing for BEST1 gene mutation, fully preserved best-corrected visual acuity, normal fundus appearance) were recruited. Each patient underwent a complete ophthalmologic examination, including electro-oculogram (EOG), short-wavelength FAF, near-infrared FAF, spectral-domain OCT (SD OCT), and microperimetry. Main outcome measure was the identification of abnormal FAF patterns. Forty-six patients showing mutations in the BEST1 gene were examined. Forty patients presented a bilateral Best vitelliform macular dystrophy, 2 patients showed a unilateral Best vitelliform macular dystrophy, and 4 patients had a bilateral subclinical form. Patients with the unilateral form (2 eyes) and patients with the subclinical form (8 eyes) were analyzed. Three BEST1 sequence variants were identified: c.73C>T (p.Arg25Trp), c.28G>A (p.Ala10Thr), and c.652C>G (p.Arg218Gly). Short-wavelength FAF was normal in all eyes. Near-infrared FAF detected a pattern consisting of a central hypo-autofluorescence surrounded by a round area of hyper-autofluorescence. A bilateral reduced EOG response was detected in 1 patient. SD OCT revealed a thicker, well-defined, and more reflective interdigitation zone in 2 patients (4 eyes, 40%). Microperimetry of the central 10 degrees revealed a slight, diffuse reduction of retinal sensitivity. Mean retinal sensitivity within the central 2 and 4 degrees was lower and matched the hypo-autofluorescent area detected on near-infrared FAF. Additional relative scotomata were detected within the 10-degree area. No change in clinical, functional, or FAF pattern was found over the follow-up. Subclinical Best vitelliform macular dystrophy is characterized by the absence of biomicroscopic fundus

  16. [Retinal function under conditions of artificial illumination with varying spectral makeup in patients with sclerotic macular dystrophy].

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    Soldatova, A M

    1990-01-01

    In conditions of a laboratory experiment using illumination of various light sources (by incandescent, luminescent, arc-mercury, natrium lamps), determination of visual acuity, visual field, color perception, restoration time of visual acuity after macular flash lighting (photostress test), Heidinger's phenomenon as well as visocontrastometry after V. V. Volkov, Weston's correction test were conducted in 46 patients (92 eyes) with macular dystrophy and 50 healthy persons in the dynamics of a working day. It was found that the spectral composition of the visible light has a remarkable influence on the function of color perception, contrast sensitivity, reaction of visual analyser on light load, visual ability to work. In patients with macular dystrophy, the dependence on the light medium was expressed much greater than in healthy persons. The highest functional state of the retina and visual ability to work in patients with macular dystrophy were provided by natrium lamps having a maximum radiation in the yellow part of the spectrum. The short-wave visible light of arc-mercury and luminescent lamps somewhat suppressed the functional state of the retina and reduced visual ability to work. The results obtained are important for selection of optimal conditions of work for patients with macular dystrophy.

  17. Keratoconus associated with corneal macular dystrophy: in vivo confocal microscopic evaluation.

    Science.gov (United States)

    Balestrazzi, A; Martone, G; Traversi, C; Haka, G; Toti, P; Caporossi, A

    2006-01-01

    The authors present a case, studied through in vivo confocal microscopy, of concomitant keratoconus and macular corneal dystrophy (MCD). A 29-year-old man underwent a penetrating keratoplasty in the right eye in May 2005. Confocal microscopy was performed to examine the cornea of the right eye. A diagnosis of concomitant keratoconus and MCD was suspected, due to the simultaneous findings of corneal ectasia and stromal opacities. In this case, using in vivo confocal microscopy, morphologic changes were detected in many corneal layers and compared with the histopathologic findings. The morphologic alterations were found mainly in the area of the cornea apex.

  18. Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

    Science.gov (United States)

    Gruenauer-Kloevekorn, Claudia; Braeutigam, Saskia; Heinritz, Wolfram; Froster, Ursula G; Duncker, Gernot I W

    2008-10-01

    The objective of this study was to investigate genotype-phenotype correlations, the consequences for surgical treatment, and the therapeutical options in patients with macular corneal dystrophy (MCD). We investigated MCD genotype by using polymerase chain reaction followed by direct sequencing in one family and four patients with MCD. Results were confirmed by restriction analysis. Clinical phenotypes, histopathological findings, and therapeutical proceedings of each patient were reported and compared with the molecular genetic results. Five mutations, four missense mutations, and one frameshift mutation, from which three were novel, and one single-nucleotide polymorphism, were identified within the coding region of the CHST6 gene. In three patients, two with a homozygous mutation within the start codon (Met1Leu) and one with a heterozygous mutation (Leu200Arg) and a polymorphism (Arg162Gly), with irregular corneal surface and recurrent erosions a phototherapeutic keratectomy lead to a transient success. An additional fitting of rigid gas permeable contact lenses in one patient could further improve irregular astigmatism. In two patients, one with a frameshift mutation (1734_1735delTG; Arg211Gln) and one with two compound heterozygous mutations (Leu200Arg; Leu173Phe) and an additional polymorphism (Arg162Gly) a penetrating keratoplasty improved BCVA without any recurrence of the opacities within the follow-up time. Different genotypes imply several phenotypes, which influence therapeutical proceedings in MCD patients. Our study shows the wide range of diagnostic findings and therapeutical options in patients suffering from macular corneal dystrophy depending on the genotype.

  19. Drusen in patient-derived hiPSC-RPE models of macular dystrophies.

    Science.gov (United States)

    Galloway, Chad A; Dalvi, Sonal; Hung, Sandy S C; MacDonald, Leslie A; Latchney, Lisa R; Wong, Raymond C B; Guymer, Robyn H; Mackey, David A; Williams, David S; Chung, Mina M; Gamm, David M; Pébay, Alice; Hewitt, Alex W; Singh, Ruchira

    2017-09-26

    Age-related macular degeneration (AMD) and related macular dystrophies (MDs) are a major cause of vision loss. However, the mechanisms underlying their progression remain ill-defined. This is partly due to the lack of disease models recapitulating the human pathology. Furthermore, in vivo studies have yielded limited understanding of the role of specific cell types in the eye vs. systemic influences (e.g., serum) on the disease pathology. Here, we use human induced pluripotent stem cell-retinal pigment epithelium (hiPSC-RPE) derived from patients with three dominant MDs, Sorsby's fundus dystrophy (SFD), Doyne honeycomb retinal dystrophy/malattia Leventinese (DHRD), and autosomal dominant radial drusen (ADRD), and demonstrate that dysfunction of RPE cells alone is sufficient for the initiation of sub-RPE lipoproteinaceous deposit (drusen) formation and extracellular matrix (ECM) alteration in these diseases. Consistent with clinical studies, sub-RPE basal deposits were present beneath both control (unaffected) and patient hiPSC-RPE cells. Importantly basal deposits in patient hiPSC-RPE cultures were more abundant and displayed a lipid- and protein-rich "drusen-like" composition. Furthermore, increased accumulation of COL4 was observed in ECM isolated from control vs. patient hiPSC-RPE cultures. Interestingly, RPE-specific up-regulation in the expression of several complement genes was also seen in patient hiPSC-RPE cultures of all three MDs (SFD, DHRD, and ADRD). Finally, although serum exposure was not necessary for drusen formation, COL4 accumulation in ECM, and complement pathway gene alteration, it impacted the composition of drusen-like deposits in patient hiPSC-RPE cultures. Together, the drusen model(s) of MDs described here provide fundamental insights into the unique biology of maculopathies affecting the RPE-ECM interface.

  20. Chromatic multifocal pupillometry for objective perimetry in patients with Best's vitelliform macular dystrophy (Conference Presentation)

    Science.gov (United States)

    Rotenstreich, Ygal; Ben-Ner, Daniel; Chibel, Ron; Mahajna, Mohamad O.; Sher, Ifat

    2017-02-01

    Purpose: Objective pupilloperimetry in healthy subjects and patients with Best's Vitelliform Macular Dystrophy using a chromatic multifocal pupillometer (CMP). Methods: A CMP (Accutome Inc) was used to record pupillary responses (PR) of 17 healthy subjects and 5 Best's patients. Red and blue light stimuli were presented at 76 locations of a 16.2 degree VF. The PR of patients were compared with their findings on Humphrey's 24-2 perimetry, Optical Coherence Tomography (OCT) and with the PR of healthy subjects. Percentage of Pupil Constriction (PPC), maximal constriction velocity (MCV) and the latency of MCV (LMCV) were determined. Results: In response to red light, Best's patients demonstrated reduced PPC and slower MCV compared with healthy subjects in nearly all test point locations. Severity of defects in PPC in responses to red light correlated with reduced thickness of photoreceptor layer as determined by OCT in the central, superior, nasal and temporal areas of the central retina (Pearson's r= -0.93, -0.91, -0.92, -0.85, respectively). By contrast, in response to blue light stimuli, the PPC and MCV of patients were lower than normal only in several central points. Surprisingly, the latency of MCV was shorter in patients compared with healthy subjects in response to red and blue stimuli. Conclusions: This study demonstrates the potential feasibility of using pupillometer-based chromatic perimetry for objectively assessing VF defects in patients with Best's macular dystrophy. Our findings also suggest that chromatic pupilloperimetry may differentiate between PR mediated by cones or rods, and can specifically detect defects in macular cones.

  1. OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES.

    Science.gov (United States)

    Agange, Negin; Sarraf, David

    2017-01-01

    To report a case of occult macular dystrophy associated with mutations in the RP1L1 and KCNV2 genes. Case report. Multimodal retinal imaging and the results of genetic testing are described. A 27-year-old Chinese man presented with complaints of decreased central vision and normal retinal examination. Color fundus photography and fundus autofluorescence were unremarkable. Spectral-domain optical coherence tomography did reveal central ellipsoid loss in each eye. Genetic testing confirmed mutations in the RP1L1 and KCNV2 genes. The presence of central ellipsoid loss with spectral-domain optical coherence tomography should be evaluated for genetic disorders such as RP1L1 and KCNV2 mutations.

  2. Late-onset Stargardt-like macular dystrophy maps to chromosome 1p13

    Energy Technology Data Exchange (ETDEWEB)

    Kaplan, J.; Gerber, S.; Rozet, J.M. [Hopital des Enfants Malades, Paris (France)] [and others

    1994-09-01

    Stargardt`s disease (MIM 248200), originally described in 1909, is an autosomal recessive condition of childhood, characterized by a sudden and bilateral loss of central vision. Typically, it has an early onset (7 to 12 years), a rapidly progressive course and a poor final outcome. The central area of the retina (macula) displays pigmentary changes in a ring form with depigmentation and atrophy of the retinal pigmentary epithelium (RPE). Perimacular yellowish spots, termed fundus flavimaculatus, are observed in a high percentage of patients. We have recently reported the genetic mapping of Stargardt`s disease to chromosome 1p13. On the other hand, considering that fundus flavimaculatus (MIM 230100) is another form of fleck fundus disease, with a Stargardt-like retinal aspect but with a late-onset and a more progressive course, we decided to test the hypothesis of allelism between typical Stargardt`s disease and late-onset autosomal recessive fundus flavimaculatus. Significant pairwise lod scores were obtained in each of four multiplex families (11 affected individuals, 12 relatives) with four markers of the 1p13 region (Z = 4.79, 4.64, 3.07, 3.16 at loci D1S435, D1S424, D1S236, and D1S415, respectively at {theta} = 0). Multipoint analysis showed that the best estimate for location of the disease gene is between D1S424 and D1S236 (maximum lod score of 5.20) as also observed in Stargardt`s disease. Our results are consistent with the location of the gene responsible of the late-onset Stargardt-like macular dystrophy in the 1p13 region and raise the hypothesis of either allelic mutational events or contiguous genes in this chromosomal region. The question of possible relationship with some age-related macular dystrophies in now open to debate.

  3. Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy.

    Science.gov (United States)

    Conley, Shannon M; Cai, Xue; Makkia, Rasha; Wu, Yalin; Sparrow, Janet R; Naash, Muna I

    2012-07-01

    Autosomal recessive Stargardt macular dystrophy is caused by mutations in the photoreceptor disc rim protein ABCA4/ABCR. Key clinical features of Stargardt disease include relatively mild rod defects such as delayed dark adaptation, coupled with severe cone defects reflected in macular atrophy and central vision loss. In spite of this clinical divergence, there has been no biochemical study of the effects of ABCA4 deficiency on cones vs. rods. Here we utilize the cone-dominant Abca4(-/-)/Nrl(-/-) double knockout mouse to study this issue. We show that as early as post-natal day (P) 30, Abca4(-/-)/Nrl(-/-) retinas have significantly fewer rosettes than Abca4(+/+)/Nrl(-/-) retinas, a phenotype often associated with accelerated degeneration. Abca4-deficient mice in both the wild-type and cone-dominant background accumulate more of the toxic bisretinoid A2E than their ABCA4-competent counterparts, but Abca4(-/-)/Nrl(-/-) eyes generate significantly more A2E per mole of 11-cis-retinal (11-cisRAL) than Abca4(-/-) eyes. At P120, Abca4(-/-)/Nrl(-/-) produced 340 ± 121 pmoles A2E/nmol 11-cisRAL while Abca4(-/-) produced 50.4 ± 8.05 pmoles A2E/nmol 11-cisRAL. Nevertheless, the retinal pigment epithelium (RPE) of Abca4(-/-)/Nrl(-/-) eyes exhibits fewer lipofuscin granules than the RPE of Abca4(-/-) eyes; at P120: Abca4(-/-)/Nrl(-/-) exhibit 0.045 ± 0.013 lipofuscingranules/μm² of RPE vs. Abca4(-/-) 0.17 ± 0.030 lipofuscingranules/μm² of RPE. These data indicate that ABCA4-deficient cones simultaneously generate more A2E than rods and are less able to effectively clear it, and suggest that primary cone toxicity may contribute to Stargardt's-associated macular vision loss in addition to cone death secondary to RPE atrophy. © 2011 Elsevier B.V. All rights reserved.

  4. Confirmation of linkage of Best`s macular dystrophy to 11q13, and evidence for genetic heterogeneity

    Energy Technology Data Exchange (ETDEWEB)

    Mansergh, F.C.; Kenna, P.F.; Farrar, G.J. [Trinity College, Dublin (United Kingdom)] [and others

    1994-09-01

    Best`s macular dystrophy, also known as vitelliform macular degeneration, is an autosomal dominant, early onset form of macular degeneration. The disease is characterized by a roughly circular deposit of lipofuscin beneath the pigment epithelium of the retinal macula. Linkage studies were performed in two families, one Irish and one German, segregating typical Best`s macular dystrophy. In the Irish family (BTMD1), linkage analysis mapped the disease causing gene to chromosome 11q13, in a 10 cM region between the microsatellite markers PYGM and D11S871. Both markers showed different recombinants with the disease phenotype. This is a region that has previously shown linkage in families affected with Best`s macular dystrophy. Lod scores of 9.63, 9.12, 6.92, and 6.83 at zero recombination, were obtained with markers D11S1344, D11S1361, D11S1357 and D11S903, respectively. This data places the disease locus definitvely within the region between PYGM and D11S871. Linkage has been significantly excluded in this region in the German family (FamE), thereby providing evidence for genetic heterogeneity in this disease. The retinal specific gene, rod outer membrane protein 1 (ROM1), which maps to this region, has been screened for mutations in family BTMD1 by SSCPE analysis and by direct sequencing. Some of the promoter region, the three exons, and both introns have been sequenced; however, no mutations were found. It is likely that a gene other than ROM1 within this region may be responsible for causing the disease phenotype.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  7. Collagen Fibrils and Proteoglycans of Macular Dystrophy Cornea: Ultrastructure and 3D Transmission Electron Tomography.

    Science.gov (United States)

    Akhtar, Saeed; Alkatan, Hind M; Kirat, Omar; Khan, Adnan A; Almubrad, Turki

    2015-06-01

    We report the ultrastructure and 3D transmission electron tomography of collagen fibrils (CFs), proteoglycans (PGs), and microfibrils within the CF of corneas of patients with macular corneal dystrophy (MCD). Three normal corneas and three MCD corneas from three Saudi patients (aged 25, 31, and 49 years, respectively) were used for this study. The corneas were processed for light and electron microscopy studies. 3D images were composed from a set of 120 ultrastructural images using the program "Composer" and visualized using the program "Visuliser Kai". 3D image analysis of MCD cornea showed a clear organization of PGs around the CF at very high magnification and degeneration of the microfibrils within the CF. Within the MCD cornea, the PG area in the anterior stroma was significantly larger than in the middle and posterior stroma. The PG area in the MCD cornea was significantly larger compared with the PG area in the normal cornea. The CF diameter and inter-fibrillar spacing of the MCD cornea were significantly smaller compared with those of the normal cornea. Ultrastructural 3D imaging showed that the production of unsulfated keratin sulfate (KS) may lead to the degeneration of micro-CFs within the CFs. The effect of the unsulfated KS was higher in the anterior stroma compared with the posterior stroma.

  8. Quantitative Fundus Autofluorescence and Optical Coherence Tomography in Best Vitelliform Macular Dystrophy

    Science.gov (United States)

    Duncker, Tobias; Greenberg, Jonathan P.; Ramachandran, Rithambara; Hood, Donald C.; Smith, R. Theodore; Hirose, Tatsuo; Woods, Russell L.; Tsang, Stephen H.; Delori, François C.; Sparrow, Janet R.

    2014-01-01

    Purpose. Quantitative fundus autofluorescence (qAF), spectral domain optical coherence tomography (SD-OCT) segmentation, and multimodal imaging were performed to elucidate the pathogenesis of Best vitelliform macular dystrophy (BVMD) and to identify abnormalities in lesion versus nonlesion fundus areas. Methods. Sixteen patients with a clinical diagnosis of BVMD were studied. Autofluorescence images (30°, 488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The grey levels (GLs) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density, to yield qAF. Horizontal SD-OCT scans were obtained and retinal layers manually segmented. Additionally, color and near-infrared reflectance (NIR-R) images were registered to AF images. All patients were screened for mutations in BEST1. In three additional BVMD patients, in vivo spectrofluorometric measurements were obtained within the vitelliform lesion. Results. Mean nonlesion qAF was within normal limits for age. Maximum qAF within the lesion was markedly increased compared with controls. By SD-OCT segmentation, outer segment equivalent thickness was increased and outer nuclear layer thickness decreased in the lesion. Changes were also present in a transition zone beyond the lesion border. In subclinical patients, no abnormalities in retinal layer thickness were identified. Fluorescence spectra recorded from the vitelliform lesion were consistent with those of retinal pigment epithelial cell lipofuscin. Conclusions. Based on qAF, mutations in BEST1 do not cause increased lipofuscin levels in nonlesion fundus areas. PMID:24526438

  9. Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy.

    Science.gov (United States)

    Patel, Dhara A; Harocopos, George J; Chang, Shu-Hong; Vora, Smita C; Lubniewski, Anthony J; Huang, Andrew Jw

    2011-06-01

    To investigate the possible mutations in the carbohydrate sulfotransferase 6 (CHST6) gene of 2 unrelated cases of macular corneal dystrophy (MCD) and to report atypical stromal deposits in one of them. Corneal tissues were stained with antisulfated keratan sulfate (KS), antitransforming growth factor beta 1-induced protein (TGFBIp), thioflavin-T, alcian blue, and Masson trichrome. Sequencing was performed to identify potential mutations in the CHST6 gene and the fourth and twelfth exons of the TGFBI gene. Alcian blue staining revealed the presence of multiple subepithelial and intrastromal mucopolysaccharide deposits, confirming the diagnosis of MCD in both cases. Immunofluorescence staining in case 1 revealed the presence of sulfated KS only in the keratocytes and select endothelial cells, consistent with MCD type IA. Preferential expression of sulfated KS was observed in keratocytes and extracellular stromal matrix in case 2, consistent with MCD type II. Atypical subepithelial and superficial stromal deposits were observed in case 1, which stained positively with alcian blue, eosin, Masson trichrome, and thioflavin-T indicating the presence of hyaline and amyloid materials. CHST6 gene sequencing revealed 2 heterozygous mutations in case 1 (a p.Arg211Gln and a novel mutation of p.Arg177Gly) and a novel homozygous mutation of p.Pro186Arg in case 2. No mutations were found in exons 4 or 12 of the TGFBI gene in case 1. Secondary hyalinosis and amyloidosis occur in a case of MCD type IA with a novel p.Arg177Gly mutation in CHST6. A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American.

  10. Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.

    Science.gov (United States)

    Duncker, Tobias; Greenberg, Jonathan P; Ramachandran, Rithambara; Hood, Donald C; Smith, R Theodore; Hirose, Tatsuo; Woods, Russell L; Tsang, Stephen H; Delori, François C; Sparrow, Janet R

    2014-03-13

    Quantitative fundus autofluorescence (qAF), spectral domain optical coherence tomography (SD-OCT) segmentation, and multimodal imaging were performed to elucidate the pathogenesis of Best vitelliform macular dystrophy (BVMD) and to identify abnormalities in lesion versus nonlesion fundus areas. Sixteen patients with a clinical diagnosis of BVMD were studied. Autofluorescence images (30°, 488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for variable laser power and detector sensitivity. The grey levels (GLs) of each image were calibrated to the reference, zero GL, magnification, and normative optical media density, to yield qAF. Horizontal SD-OCT scans were obtained and retinal layers manually segmented. Additionally, color and near-infrared reflectance (NIR-R) images were registered to AF images. All patients were screened for mutations in BEST1. In three additional BVMD patients, in vivo spectrofluorometric measurements were obtained within the vitelliform lesion. Mean nonlesion qAF was within normal limits for age. Maximum qAF within the lesion was markedly increased compared with controls. By SD-OCT segmentation, outer segment equivalent thickness was increased and outer nuclear layer thickness decreased in the lesion. Changes were also present in a transition zone beyond the lesion border. In subclinical patients, no abnormalities in retinal layer thickness were identified. Fluorescence spectra recorded from the vitelliform lesion were consistent with those of retinal pigment epithelial cell lipofuscin. Based on qAF, mutations in BEST1 do not cause increased lipofuscin levels in nonlesion fundus areas.

  11. Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy.

    Science.gov (United States)

    Parodi, Maurizio Battaglia; Iacono, Pierluigi; Del Turco, Claudia; Triolo, Giacinto; Bandello, Francesco

    2016-07-01

    To identify the fundus autofluorescence (FAF) patterns in Best vitelliform macular dystrophy (VMD). Patients affected by VMD in vitelliform, pseudohypopyon, and vitelliruptive stages underwent a complete ophthalmological examination, including best-corrected visual acuity (BCVA), short-wavelength FAF (SW-FAF), near-infrared FAF (NIR-FAF) and microperimetry. the identification of the correlation between SW-FAF and NIR-FAF patterns of the foveal region with BCVA, and central retinal sensitivity in eyes affected by VMD. The secondary outcomes included the definition of the frequency of foveal patterns on SW-FAF and NIR-FAF. Thirty-seven of 64 (58 %), 8 of 64 (12.5 %) and 19 of 64 (29.5 %) eyes showed vitelliform, pseudohypopyon, and vitelliruptive stages respectively. Three main FAF patterns were identified on both techniques: hyper-autofluorescent pattern, hypo-autofluorescent pattern, and patchy pattern. BCVA was significantly different in eyes with hypo-autofluorescent and patchy patterns with respect to eyes showing a hyper-autofluorescent pattern. Similar differences were registered in the FS according to SW-FAF classification. However, the FS differed in each subgroup in the NIR-FAF analysis. Subgroup analyses were performed on the patchy pattern, combining FAF and fundus abnormalities. Considering both FAF techniques, the BCVA differed between the vitelliform and pseudohypopyon stages, and between the vitelliform and vitelliruptive stages. In the NIR-FAF classification, there was a significant statistical difference in the FS between each subgroup; in the SW-FAF, there was a significant difference between the vitelliform and pseudohypopyon stages and the vitelliform and vitelliruptive stages. Three main FAF patterns can be identified in VMD. The patchy pattern is the most frequent, accounting for 70 % of eyes on SW-FAF and 80 % of eyes on NIR-FAF. A tighter correlation links the classification of NIR-FAF patterns and FS. Longitudinal investigations are

  12. [Macular crystalline dystrophy in Sjögren-Larsson syndrome: case report].

    Science.gov (United States)

    Isaac, David Leonardo Cruvinel; Queiroz, Gustavo Henrique Medeiros; Feres, Caroline Campelo; Avila, Marcos

    2009-01-01

    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.

  13. Clinical outcomes and risk factors for graft failure after deep anterior lamellar keratoplasty and penetrating keratoplasty for macular corneal dystrophy.

    Science.gov (United States)

    Reddy, Jagadesh C; Murthy, Somasheila I; Vaddavalli, Pravin K; Garg, Prashant; Ramappa, Muralidhar; Chaurasia, Sunita; Rathi, Varsha; Sangwan, Virender S

    2015-02-01

    The aim of this study was to compare visual acuity, clinical outcomes, complications, and risk factors for graft failure after deep anterior lamellar keratoplasty (DALK) and penetrating keratoplasty (PK) for macular corneal dystrophy. Retrospective comparative case series. The PK group consisted of 109 eyes of 84 patients and the DALK group consisted of 21 eyes of 20 patients. The mean logarithm of the minimum angle of resolution best-corrected visual acuity at 3 and 12 months was 0.5 versus 0.5 (P = 0.285) and 0.4 versus 0.4 (P = 0.67) in the DALK and PK groups, respectively. There was no significant statistical difference in astigmatism and spherical equivalent between the 2 groups at 12 months. In the PK group, graft rejection that was the most common cause of graft failure was seen in 27 eyes (25%), of which 55% occurred within 1 year. In the DALK group, Descemet membrane microperforation occurred in 5 eyes (24%) intraoperatively, and early postoperative Descemet membrane detachment with double anterior chamber occurred in 9 eyes (43%). Kaplan-Meier estimate of graft survival in PK versus DALK groups were 93% versus 80% at 1 year and 78% versus 70% at 4 years, respectively. Visual and refractive outcomes are comparable between DALK and PK groups. DALK was superior to PK in its safety against postoperative complications such as endothelial rejection and secondary glaucoma. Graft failure in DALK was mostly associated with either intraoperative or early postoperative complications. DALK is a viable surgical option in cases with macular corneal dystrophy.

  14. Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family

    Directory of Open Access Journals (Sweden)

    Yu-He Qi

    2017-08-01

    Full Text Available Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD in a four-generation Chinese family with inherited macular dystrophy.Methods: In the current study, we comprehensively screened 130 genes involved in common inherited non-syndromic eye diseases with next-generation sequencing-based target capture sequencing of the proband of a four-generation Chinese family that has suffered from maculopathy without a definitive diagnosis for over 10 years. Variants were filtered and analyzed to identify possible disease-causing variants before validation by Sanger sequencing.Results: Two heterozygous mutations—RP1L1 c.133 C > T (p.Arg45Trp, which is a hot spot for OMD, and ABCA4 c.6119 G > A (p.Arg2040Gln, which was identified in Stargardt’s disease were found in three patients, but neither of the mutations was found in the unaffected individuals in the same family, who are phenotypically normal or in the normal control volunteers.Conclusion: These results cannot only confirm the diagnosis of OMD in the proband, but also provide presymptomatic diagnosis of the proband’s children before the onset of visual acuity impairment and guidance regarding the prognosis and management of these patients. Heterozygous mutations of RP1L1 c.133 C > T (p.Arg45Trp and ABCA4 c.6119 G > A (p.Arg2040Gln are likely responsible for OMD. Our results further extend our current understanding of the genetic basis of OMD, and emphasize the importance of molecular diagnosis and genetic counseling for OMD.

  15. Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.

    Science.gov (United States)

    Qi, Yu-He; Gao, Feng-Juan; Hu, Fang-Yuan; Zhang, Sheng-Hai; Chen, Jun-Yi; Huang, Wan-Jing; Tian, Guo-Hong; Wang, Min; Gan, De-Kang; Wu, Ji-Hong; Xu, Ge-Zhi

    2017-01-01

    Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy. Methods: In the current study, we comprehensively screened 130 genes involved in common inherited non-syndromic eye diseases with next-generation sequencing-based target capture sequencing of the proband of a four-generation Chinese family that has suffered from maculopathy without a definitive diagnosis for over 10 years. Variants were filtered and analyzed to identify possible disease-causing variants before validation by Sanger sequencing. Results: Two heterozygous mutations-RP1L1 c.133 C > T (p.Arg45Trp), which is a hot spot for OMD, and ABCA4 c.6119 G > A (p.Arg2040Gln), which was identified in Stargardt's disease were found in three patients, but neither of the mutations was found in the unaffected individuals in the same family, who are phenotypically normal or in the normal control volunteers. Conclusion: These results cannot only confirm the diagnosis of OMD in the proband, but also provide presymptomatic diagnosis of the proband's children before the onset of visual acuity impairment and guidance regarding the prognosis and management of these patients. Heterozygous mutations of RP1L1 c.133 C > T (p.Arg45Trp) and ABCA4 c.6119 G > A (p.Arg2040Gln) are likely responsible for OMD. Our results further extend our current understanding of the genetic basis of OMD, and emphasize the importance of molecular diagnosis and genetic counseling for OMD.

  16. Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.

    Science.gov (United States)

    Piermarocchi, Stefano; Segato, Tatiana; Leon, Alberta; Colavito, Davide; Miotto, Stefania

    2016-03-01

    Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence tomography (SD‑OCT). Mutations in the RP1L1 gene have been identified to be responsible for the disease in Asian subjects. The present study assessed the role of mutations in the RP1L1 gene in an Italian family with OMD. One patient with OMD and five related subjects (two male offspring affected by progressive visual decline and three asymptomatic siblings of the patient) were subjected to complete ophthalmological examination. SD‑OCT was also performed. All subjects were screened for OMD‑associated genetic mutations in the RP1L1 gene. The OMD patient and the two symptomatic offspring presented with a reduced best‑corrected visual acuity. Although no fundus abnormalities were observed, SD‑OCT examination showed that the external limiting membrane and the inner segment/outer segment band were not clearly identifiable and a focal disruption of the photoreceptor layer was present. The degree of photoreceptor alterations was correlated with the severity of visual impairment. Clinical and tomographic results in the three asymptomatic relatives were normal. A p.Arg45Trp mutation in the RP1L1 gene was identified in the OMD patient, in the two symptomatic offspring and also in two of the asymptomatic siblings of the patient. The identification of RP1L1 mutations in subjects with OMD may improve the accuracy of diagnosis of this rare condition and may aid in enhancing the efficacy of genetic counseling.

  17. 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.

  18. Training to improve reading speed in patients with juvenile macular dystrophy: a randomized study comparing two training methods.

    Science.gov (United States)

    Nguyen, Nhung X; Stockum, Andrea; Hahn, Gesa A; Trauzettel-Klosinski, Susanne

    2011-02-01

    In this study, we examined the clinical application of two training methods for optimizing reading ability in patients with juvenile macular dystrophy with established eccentric preferred retinal locus and optimal use of low-vision aids. This randomized study included 36 patients with juvenile macular dystrophy (35 with Stargardt's disease and one with Best's disease). All patients have been using individually optimized low-vision aids. After careful ophthalmological examination, patients were randomized into two groups: Group 1: Training to read during rapid serial visual presentation (RSVP) with elimination of eye movements as far as possible (n = 20); Group 2: Training to optimize reading eye movements (SM, sensomotoric training) (n = 16). Only patients with magnification requirement up to sixfold were included in the study. Training was performed for 4 weeks with an intensity of ½ hr per day and 5 days a week. Reading speed during page reading was measured before and after training. Eye movements during silent reading were recorded before and after training using a video eye tracker in 11 patients (five patients of SM and six of RSVP training group) and using an infrared reflection system in five patients (three patients from the SM and two patients of RSVP training group). Age, visual acuity and magnification requirement did not differ significantly between the two groups. The median reading speed was 83 words per minute (wpm) (interquartile range 74-105 wpm) in the RSVP training group and 102 (interquartile range 63-126 wpm) in the SM group before training and increased significantly to 104 (interquartile range 81-124 wpm) and 122, respectively (interquartile range 102-137 wpm; p = 0.01 and 0.006) after training, i.e. patients with RSVP training increased their reading speed by a median of 21 wpm, while it was 20 wpm in the SM group. There were individual patients, who benefited strongly from the training. Eye movement recordings before and after training

  19. The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy

    Science.gov (United States)

    Michaelides, Michel; Gaillard, Marie-Claire; Escher, Pascal; Tiab, Leila; Bedell, Matthew; Borruat, François-Xavier; Barthelmes, Daniel; Carmona, Ruben; Zhang, Kang; White, Edward; McClements, Michelle; Robson, Anthony G.; Holder, Graham E.; Bradshaw, Keith; Hunt, David M.; Webster, Andrew R.; Moore, Anthony T.; Schorderet, Daniel F.; Munier, Francis L.

    2010-01-01

    Purpose. To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. Methods. Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus autofluorescence (FAF) imaging, fundus fluorescein angiography (FFA), and optical coherence tomography (OCT) were performed in available subjects. Mutation screening of PROM1 was performed. Results. The R373C mutant was present heterozygously in all affected patients. The age at onset was variable and ranged between 9 and 58 years, with most of the individuals presenting with reading difficulties. Subjects commonly had a mild to moderate reduction in visual acuity except for members of family C who experienced markedly reduced central vision. The retinal phenotype was characterized by macular dystrophy, with retinal pigment epithelial mottling in younger subjects, progressing to typical BEM over time, with the development of macular atrophy in older patients. In addition, all members of family C had typical features of RP. The electrophysiological findings were variable both within and between families. Conclusions. Mutations in PROM1 have been described to cause a severe form of autosomal recessive RP in two families of Indian and Pakistani descent. The results of this study have demonstrated that a distinct redundant PROM1 mutation (R373C) can also produce an autosomal dominant, fully penetrant retinopathy, characterized by BEM with little inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod–cone dysfunction and marked intra- and interfamilial variability, ranging from isolated maculopathy without generalized photoreceptor dysfunction to maculopathy associated with very severe rod–cone dysfunction. PMID:20393116

  20. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

    Science.gov (United States)

    Michaelides, Michel; Gaillard, Marie-Claire; Escher, Pascal; Tiab, Leila; Bedell, Matthew; Borruat, François-Xavier; Barthelmes, Daniel; Carmona, Ruben; Zhang, Kang; White, Edward; McClements, Michelle; Robson, Anthony G; Holder, Graham E; Bradshaw, Keith; Hunt, David M; Webster, Andrew R; Moore, Anthony T; Schorderet, Daniel F; Munier, Francis L

    2010-09-01

    To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus autofluorescence (FAF) imaging, fundus fluorescein angiography (FFA), and optical coherence tomography (OCT) were performed in available subjects. Mutation screening of PROM1 was performed. The R373C mutant was present heterozygously in all affected patients. The age at onset was variable and ranged between 9 and 58 years, with most of the individuals presenting with reading difficulties. Subjects commonly had a mild to moderate reduction in visual acuity except for members of family C who experienced markedly reduced central vision. The retinal phenotype was characterized by macular dystrophy, with retinal pigment epithelial mottling in younger subjects, progressing to typical BEM over time, with the development of macular atrophy in older patients. In addition, all members of family C had typical features of RP. The electrophysiological findings were variable both within and between families. Mutations in PROM1 have been described to cause a severe form of autosomal recessive RP in two families of Indian and Pakistani descent. The results of this study have demonstrated that a distinct redundant PROM1 mutation (R373C) can also produce an autosomal dominant, fully penetrant retinopathy, characterized by BEM with little inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod-cone dysfunction and marked intra- and interfamilial variability, ranging from isolated maculopathy without generalized photoreceptor dysfunction to maculopathy associated with very severe rod-cone dysfunction.

  1. Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.

    Science.gov (United States)

    Warwick, Alasdair N; Shawkat, Fatima; Lotery, Andrew J

    2017-01-01

    Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A (Arg820His) mutation. Cystoid macular oedema (CMO) is a rare feature of CORD and has not been described in CORD7. We report a patient who was heterozygous for the RIM1 mutation with bilateral CMO and who manifested a retinitis pigmentosa phenotype. The patient's medical notes were retrospectively reviewed over an 18-month period. Genetic testing was performed by next generation sequencing for a panel of 176 genes associated with retinal dystrophy. A 34-year-old man presented with a 5-year history of bilateral floaters and blurred vision. Visual acuity was 20/23 and 20/33 in the right and left eyes, respectively. Optical coherence tomography scans revealed bilateral CMO. Goldmann visual field tests detected mid-peripheral ring scotomas. Electrodiagnostic testing was overall consistent with a primary photoreceptor abnormality involving both rods and cones. Subsequent genetic testing identified heterozygosity for the RIM1 c.2459G>A (Arg820His) mutation. Various treatments for CMO were trialled unsuccessfully. However, at his latest clinic appointment the CMO had partially improved following topical brinzolamide therapy. Most recent visual acuity was 20/25 in the right eye and 20/24 in the left eye. This is the first reported case of bilateral CMO in association with the RIM1 mutation. Overall, our findings were more consistent with a phenotype of retinitis pigmentosa. This could imply that the RIM1 mutation causes diverse retinal dystrophies, or that the previously described CORD7 phenotype resulted from a different variant on the same haplotype.

  2. Central Areolar Choroidal Dystrophy (CACD) and Age-Related Macular Degeneration (AMD): Differentiating Characteristics in Multimodal Imaging

    NARCIS (Netherlands)

    Smailhodzic, D.; Fleckenstein, M.; Theelen, T.; Boon, C.J.F.; Huet, R.A. van; Ven, J.P. van de; Hollander, A.I. den; Schmitz-Valckenberg, S.; Hoyng, C.B.; Weber, B.H.; Holz, F.G.; Klevering, B.J.

    2011-01-01

    Purpose. Late-onset central areolar choroidal dystrophy (CACD) may easily be confused with geographic atrophy (GA) in AMD. To detect discerning features, the morphologic changes in CACD patients and in AMD patients were assessed with confocal scanning laser ophthalmoscopy (cSLO), fundus

  3. Fine mapping of Best`s macular dystrophy localises the gene in close proximity to, but distinct from, the D115480/ROM1

    Energy Technology Data Exchange (ETDEWEB)

    Graff, C.; Ahlbom, B.E.; Anneren, G. [University Hospital, Uppsala (Sweden)] [and others

    1994-09-01

    Best`s macular dystrophy (BMD) is an autosomal dominant disease characterized by accumulation of lipofuscin beneath the pigment epithelium of the macula, leading to early-onset impairment of central vision. The gene has previously been mapped to 11q13. Based on DNA from 191 people from a large 12-generation family, the gene now has been mapped to a 1.5 cM interval between the markers Fc{epsilon}RI and D11S480/ROM1. By disequilibrium analysis the gene was estimated to be 0.321 cM centromeric to the marker D11S480. Since this on average corresponds to 300 kb, the gene may be at a distance contained in YAC molecules. To physically characterize this region, YAC clones positive for markers flanking BMD have been identified. Sequence analysis of the candidate gene ROM1 did not reveal any mutation. However, one recombination between intragenic ROM1 polymorphisms and BMD was detected, which make it highly unlikely that mutations in ROM1 are causing BMD.

  4. 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.

  5. Spider dystrophy as an ocular manifestation of myotonic dystrophy.

    Science.gov (United States)

    Louprasong, Amber C; Light, Dennis J; Diller, Rebecca S

    2010-04-01

    Myotonic dystrophy is the most common adult-onset muscular dystrophy. It is an autosomal dominant inherited neuromuscular disease that is characterized by myotonia, muscle weakness, and atrophy. It affects multiple systems including skeletal muscular, gastrointestinal, cardiac, respiratory, central nervous, endocrine, and ocular. Ocular manifestations of myotonic dystrophy include cataract, ocular muscle changes, hypotony, and retinal pigmentary changes in the periphery or in the macula (known as pigment pattern dystrophy). This report presents and discusses the case of a pigmented pattern dystrophy known as spider dystrophy as an ocular manifestation of myotonic dystrophy. A 44-year-old man with myotonic dystrophy presented to the eye clinic for routine examination. Ocular history included previous bilateral cataract surgery and mild bilateral ptosis for the last "few years." Dilated fundus examination was remarkable for bilateral macular pigmentary changes in an irregular "spider"-shaped pattern. The patient was asymptomatic without decrease in vision or Amsler grid defects. Optical coherence tomography was normal. A retinal consult concurred with the diagnosis of spider dystrophy. Photo documentation was obtained, and the patient is being monitored annually. Pigmented pattern dystrophies, including spider dystrophy, have been associated with myotonic dystrophy. They are set apart from other retinal dystrophies because they rarely affect visual acuity, and the majority of patients are asymptomatic. Progression may lead to reduced vision and in rare cases choroidal neovascularization. Annual dilated examinations, photo documentation, optical coherence tomography, and home Amsler grid monitoring are recommended for follow-up care. Published by Elsevier Inc.

  6. 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.

  7. Proteomic and genetic analyses demonstrate a critical role for the complement system in basal deposit formation in a mouse model of inherited macular dystrophy

    Science.gov (United States)

    Macular degenerations, inherited and age-related, are important causes of vision loss. A common feature of both is drusen formation which contributes to vision loss. The immune system, complement proteins and inflammation have been implicated in drusen formation but the underlying mechanisms are no...

  8. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Macular Edema Sections What Is Macular Edema? What Causes Macular Edema? Macular Edema Symptoms Macular Edema Diagnosis ... particularly if it is left untreated. Next What Causes Macular Edema? Related Ask an Ophthalmologist Answers Would ...

  9. Achondroplasia and Macular Coloboma.

    Science.gov (United States)

    Ahoor, M H; Amizadeh, Y; Sorkhabi, R

    2015-01-01

    Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia.

  10. Retinal capillaritis in a CRB1-associated retinal dystrophy.

    Science.gov (United States)

    Murro, Vittoria; Mucciolo, Dario Pasquale; Sodi, Andrea; Vannozzi, Lorenzo; De Libero, Cinzia; Simonini, Gabriele; Rizzo, Stanislao

    2017-12-01

    To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME). A case report. An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations. Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient.

  11. 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

  12. 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 ...

  13. Muscular Dystrophy

    Science.gov (United States)

    Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and ... ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent ...

  14. Macular coccidioidomycosis.

    Science.gov (United States)

    Lamer, L; Paquin, F; Lorange, G; Bayardelle, P; Ojeimi, G

    1982-06-01

    A 26-year-old woman had an enlarging dense macular lesion in the right eye. The funduscopic and angiographic findings were distinctly different from those in macular histoplasmosis. She was found to have a coccidioidomycotic granuloma in the left lung and was treated with amphotericin B. Within a month the macular lesion was cicatricial. This appears to be the first reported case of presumed ocular coccidioidomycosis in Canada.

  15. 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.

  16. Fuchs' Dystrophy

    Science.gov (United States)

    ... and can cause your vision to gradually worsen over years. But most people with Fuchs' dystrophy don't develop symptoms until they reach their 50s or 60s. Some medications and self-care steps may help relieve your Fuchs' dystrophy ...

  17. Cone rod dystrophies

    Directory of Open Access Journals (Sweden)

    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

  18. 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? Leer en Español: ¿Qué Es un Edema Macular? ...

  19. Corneal dystrophies

    Directory of Open Access Journals (Sweden)

    Klintworth Gordon K

    2009-02-01

    Full Text Available Abstract The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically, the corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities. Some affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma (anterior corneal dystrophies, the corneal stroma (stromal corneal dystrophies, or Descemet membrane and the corneal endothelium (posterior corneal dystrophies. Most corneal dystrophies have no systemic manifestations and present with variable shaped corneal opacities in a clear or cloudy cornea and they affect visual acuity to different degrees. Corneal dystrophies may have a simple autosomal dominant, autosomal recessive or X-linked recessive Mendelian mode of inheritance. Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Knowledge about the responsible genetic mutations responsible for these disorders has led to a better understanding of their basic defect and to molecular tests for their precise diagnosis. Genes for other corneal dystrophies have been mapped to specific chromosomal loci, but have not yet been identified. As clinical manifestations widely vary with the different entities, corneal dystrophies should be suspected when corneal transparency is lost or corneal opacities occur spontaneously, particularly in both corneas, and especially in the presence of a positive family history or in the offspring of consanguineous parents. Main differential diagnoses include various causes of monoclonal gammopathy, lecithin-cholesterol-acyltransferase deficiency, Fabry disease, cystinosis, tyrosine transaminase deficiency, systemic lysosomal storage

  20. Muscular Dystrophy

    Science.gov (United States)

    ... Inheritance patterns Muscular dystrophy Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  1. FFA STUDY OF MACULAR LESIONS

    Directory of Open Access Journals (Sweden)

    K. Vinayagamurthy

    2017-08-01

    Full Text Available BACKGROUND Macula is an important portion of retina that occupies the posterior pole of retina. Any disease that affects macula results in significant loss of central vision, form vision and colour vision to an extent. Macular lesions can be hereditary as well as acquired. Macular lesions occur in both younger and older individuals. Anatomically, a macular lesions can vary from a simple lesion like an RPF defect to a vision-threatening lesions like choroidal neovascular membrane. Many screening tests that are sensitive and specific are available to assess the functioning of macula called as ‘macular function test’. But, the greater understanding of the retinal vascular led to the usage of fluorescein angiogram in the detection and screening of macular, retinovascular and optic disc lesions. Through fundus fluorescein angiogram is a thirty-year-old procedure; it is still in vogue in almost all parts of the world. It has its own merits. The aim of the study is to study the role of fluorescein angiography in the evaluation of macular lesions. MATERIALS AND METHODS A hospital-based prospective randomised study was done, which included 50 patients. Detailed patient history was taken and thorough ocular and systemic examination was done. All patients were examined by ophthalmoscopy (direct and indirect and slit-lamp examination with 90D followed by fluorescein angiography. Ophthalmoscopic and fluorescein angiography findings were analysed and categorised. Patients were advised proper ocular and systemic treatment and follow up. RESULTS 50 cases with macular lesions were analysed and categorised into conditions like ARMD, CSR, macular oedema, CME, degenerations and dystrophies and miscellaneous conditions. FFA altered the diagnosis in 8% cases and categorised the cases in all cases. 16% patients developed adverse reactions like allergy, vomiting and nausea. On statistical analysis, FFA proved to be cheap and superior diagnostic tool in confirming

  2. Macular degeneration (image)

    Science.gov (United States)

    Macular degeneration is a disease of the retina that affects the macula in the back of the eye. ... see fine details. There are two types of macular degeneration, dry and wet. Dry macular degeneration is more ...

  3. Muscular Dystrophy

    Science.gov (United States)

    ... Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy . Muscle Nerve. Jul 2006;34(1):1-15. Congenital ( ... affected? Throat References: 1. Emery AEH. The muscular ... V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of ...

  4. Learning about Myotonic Dystrophy

    Science.gov (United States)

    ... and other body systems. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, ... symptoms of myotonic dystrophy? People who have myotonic dystrophy have progressive muscle wasting and weakness beginning in their 20's or ...

  5. Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4-Associated Retinopathies

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Zernant, Jana; Larsen, Michael

    2014-01-01

    PURPOSE: We describe a particular form of autosomal recessive generalized choriocapillaris dystrophy phenotype associated with ABCA4 mutations. METHODS: A cohort of 30 patients with identified ABCA4 mutations and a distinct phenotype was studied. A retrospective review of history, fundus...... at a high frequency among patients with ABCA4-associated retinal dystrophies in Denmark. CONCLUSIONS: Generalized choriocapillaris dystrophy is a progressive ABCA4-associated phenotype characterized by early-onset macular dystrophy that disperses and expands to widespread end-stage chorioretinal atrophy...

  6. Delayed epithelial healing after keratoplasty for lattice corneal dystrophy.

    Science.gov (United States)

    Foerster, Claudia G; Langenbucher, Achim; Cursiefen, Claus; Kruse, Friedrich E; Seitz, Berthold

    2007-12-01

    To compare the time necessary for complete epithelial healing after penetrating keratoplasty carried out for various corneal dystrophies. In a retrospective single-center study, 679 eyes that underwent nonmechanical keratoplasty were evaluated concerning postoperative epithelial healing time. On the basis of corneal pathology, the eyes were divided into 5 groups: group 1, lattice dystrophy (n = 9); group 2, macular dystrophy (n = 16); group 3, Fuchs dystrophy (n = 207); group 4, granular dystrophy (n = 13); group 5, keratoconus (n = 434). After keratoplasty, the time necessary for complete healing of the epithelial defect was compared among the groups. In lattice dystrophy, 22% showed delayed healing, in contrast to 0% in granular dystrophy. Mean time necessary for healing in group 1 (8.8 +/- 9.4 days) was significantly longer than in group 2 (2.5 +/- 2.5 days, P = 0.003), group 3 (4.4 +/- 4.1 days, P = 0.09), group 4 (2.2 +/- 1.4 days, P = 0.003), and group 5 (3.1 +/- 2.7 days, P = 0.005). In patients with lattice dystrophy, delayed epithelial healing after penetrating keratoplasty may be anticipated. Patients should be counseled accordingly.

  7. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Macular Edema Symptoms Macular Edema Diagnosis Macular Edema Treatment What Is Macular Edema? Leer en Español: ¿Qué ... common form of vision loss for people with diabetes—particularly if it is left untreated. Next What ...

  8. What Is Macular Edema?

    Medline Plus

    Full Text Available ... remains. Macular edema is often a complication of diabetic retinopathy , and is the most common form of ... 2016 Study Compares Eylea, Lucentis and Avastin for Diabetic Macular Edema Jul 17, 2015 Top 5 Risk ...

  9. 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 ...

  10. Duchenne muscular dystrophy

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000705.htm Duchenne muscular dystrophy To use the sharing features on this page, please enable JavaScript. Duchenne muscular dystrophy is an inherited disorder. It involves muscle weakness , ...

  11. Genetics Home Reference: myotonic dystrophy

    Science.gov (United States)

    ... SJ. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta. 2007 Feb;1772(2):195- ... Moxley R. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on ...

  12. Idiopathic 20-nail dystrophy

    DEFF Research Database (Denmark)

    Larsen, Camilla; Bygum, Anette

    2016-01-01

    Twenty-nail dystrophy is a rare disease, typically with all 20 nails affected, which normally occurs as an idiopathic condition in childhood but can be linked to other diseases. We report a case of a 7-year-old girl with a 3-year history of 20-nail dystrophy and no associated diseases or family...... history of skin or nail diseases. She was followed and treated conservatively and, after 6 years of follow-up, we found a marked improvement and almost full resolution of her nail dystrophy. The aim of this report is to show that idiopathic 20-nail dystrophy in children is a self-limiting condition...

  13. 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 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.

  14. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Health Find an Ophthalmologist Academy Store Eye Health A-Z Symptoms Glasses & Contacts Tips & Prevention News Ask ... Ophthalmologist Patient Stories Español Eye Health / Eye Health A-Z Macular Edema Sections What Is Macular Edema? ...

  15. What Is Macular Edema?

    Medline Plus

    Full Text Available ... remains. Macular edema is often a complication of diabetic retinopathy , and is the most common form of vision ... 28, 2014 Restoring Vision Lost to Central Serous Retinopathy (CSR) Jun 03, 2014 ... Thought May 31, 2016 Study Compares Eylea, Lucentis and Avastin for Diabetic Macular Edema Jul 17, 2015 Top 5 Risk ...

  16. Deep anterior lamellar keratoplasty for the treatment of stromal corneal dystrophies.

    Science.gov (United States)

    Unal, Mustafa; Arslan, Osman S; Atalay, Eray; Mangan, Mehmet S; Bilgin, Ahmet B

    2013-03-01

    To report the perioperative complications and clinical outcomes after deep anterior lamellar keratoplasty (DALK) using the big bubble technique in eyes with stromal corneal dystrophies. Seventy-four eyes of 65 patients who underwent DALK for stromal corneal dystrophies were evaluated in this retrospective interventional case series study. Main outcome measures were intraoperative and postoperative complications, postoperative uncorrected visual acuity, best spectacle-corrected visual acuity, spherical equivalent refraction, and topographic astigmatism. There were 44 eyes with macular corneal dystrophy, 18 eyes with lattice dystrophy, and 12 eyes with granular dystrophy. DALK was completed in 69 cases (94.6%). Descemet membrane microperforations occurred in 6 eyes (8.7%). The mean follow-up period was 43.5 ± 23.9 months, ranging from 12 to 96 months. Postoperative best spectacle-corrected visual acuity of 0.5 or better was present in 52 of 69 eyes (75.4%). There were 3 episodes of stromal graft rejection, which responded to topical therapy. Lattice dystrophy recurred in 6 eyes (35.3%). DALK using the big bubble technique is an effective procedure in the treatment of patients with corneal stromal dystrophies. Recurrence of lattice dystrophy was relatively high.

  17. Meaning of Muscular Dystrophy

    Science.gov (United States)

    ... MD Living With MD en español Qué significa distrofia muscular What Is Muscular Dystrophy? Muscular dystrophy (say: MUS- ... blood test if a kid has Becker or Duchenne MD. Or the doctor might take a small piece of the muscle and look at it under a microscope to ...

  18. Facioscapulohumeral muscular dystrophy

    Science.gov (United States)

    ... on this page, please enable JavaScript. Facioscapulohumeral muscular dystrophy is muscle weakness and loss of muscle tissue that gets ... to have children. Alternative Names Landouzy-Dejerine muscular dystrophy Images ... Superficial anterior muscles References Preston DC, Shapiro BE. Proximal, distal, and ...

  19. Cataract surgery outcomes and complications in retinal dystrophy patients.

    Science.gov (United States)

    Davies, Emma C; Pineda, Roberto

    2017-12-01

    To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery. Retrospective chart review at an academic tertiary referral centre. Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery. Cases were reviewed to determine indication for surgery, intraoperative complications, postoperative findings, preoperative visual acuity, 1-month postoperative visual acuity, and patient subjective satisfaction. Mean best-corrected visual acuity significantly improved after cataract surgery, from 1.09 ± 0.69 preoperatively to 0.614 ± 0.448 at 1 month postoperatively, on logMAR scale (p = 0, Wilcoxon test). The most common postoperative finding was posterior capsule opacification in 20 eyes (66.7%). Visually significant cystoid macular edema occurred in 4 eyes (13.3%) despite the postoperative eye drop regimen. Patient satisfaction at 1 month postoperatively was noted as 93.3% (28 eyes) and attributed mostly to improved central vision and reduced glare symptoms. Patients with visually significant cataract in association with retinal dystrophy have significantly improved best-corrected visual acuity after cataract surgery and report subjectively improved visual functioning. This study confirms that several risks factors are greater in patients with retinal dystrophy, including zonular weakness, posterior capsular opacification, and cystoid macular edema, compared with the general cataract population. Copyright © 2017 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

  20. 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.

  1. 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

  2. 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)

  3. What Is Macular Edema?

    Medline Plus

    Full Text Available ... side) vision remains. Macular edema is often a complication of diabetic retinopathy , and is the most common form of vision loss for people with diabetes—particularly if it is left untreated. Next What ...

  4. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Was Beta Carotene Removed From AREDS2 Vitamin Formula? Jul 28, 2014 Restoring Vision Lost to Central Serous ... Eylea, Lucentis and Avastin for Diabetic Macular Edema Jul 17, 2015 Top 5 Risk Factors for AMD ...

  5. What Is Macular Edema?

    Medline Plus

    Full Text Available ... mild to severe, but in many cases, your peripheral (side) vision remains. Macular edema is often a ... Your Laser Pointer Dangerous Enough to Cause Eye Injury? Dec 20, 2013 Study Finds Tablets Help People ...

  6. What Is Macular Edema?

    Medline Plus

    Full Text Available ... a thin layer of light-sensitive tissue that lines the back of the eye. Light rays are ... to severe, but in many cases, your peripheral (side) vision remains. Macular edema is often a complication ...

  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 ... may be mild to severe, but in many cases, your peripheral (side) vision remains. Macular edema is ... health and preserving your vision. Privacy Policy Related Studies Show Zika Virus May Cause More Serious Eye ...

  9. Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.

    NARCIS (Netherlands)

    Cruysberg, J.R.M.; Eerola, K.U.; Vrijland, H.R.; Aandekerk, A.L.; Kremer, H.P.H.; Deutman, A.F.

    2002-01-01

    PURPOSE: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary ataxia and atrophic maculopathy. The report is cited in the literature as autosomal dominant cerebellar ataxia with retinal degeneration. The purpose of the present study is to document the

  10. Genetic and phenotypic heterogeneity in pattern dystrophy

    Science.gov (United States)

    Francis, P J; Schultz, D W; Gregory, A M; Schain, M B; Barra, R; Majewski, J; Ott, J; Acott, T; Weleber, R G; Klein, M L

    2005-01-01

    Background: The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised. Methods: Families were ascertained and clinically evaluated including angiography and electrophysiology where appropriate. Results: In each of the six families with autosomal dominant PD, a mutation in the peripherin/RDS gene was identified, including a novel Cys250Phe variant. These data suggest that the condition is characterised by the accumulation of yellow to grey subretinal flecks, followed by pigmentary change accompanied by patches of chorioretinal atrophy. Subsequently, 50% (16/32) of individuals with PD developed poor central vision because of chorioretinal geographic atrophy or subretinal neovascularisation. The risk of these complications appears to increase with age. Conclusion: PD should not necessarily be considered a benign condition. Instead, patients should be counselled that there is a significant chance of losing central vision in their later years. Some elderly patients with probands showing PD may be misdiagnosed with age related macular degeneration owing to the phenotypic similarities between these conditions in the advanced state. PMID:16113362

  11. Duchenne and Becker Muscular Dystrophies

    Science.gov (United States)

    ... that our son Mike, then age 4, has Duchenne muscular dystrophy, we were devastated. Immediately, our hopes and dreams ... over time, the per- son’s muscle strength declines. Duchenne muscular dystrophy (DMD) was first described by the French neurologist ...

  12. 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 ... Related Studies Show Zika Virus May Cause More Serious Eye ...

  13. 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 diabetes—particularly if it is left untreated. ... Studies Show Zika Virus May Cause More Serious Eye ...

  14. American Macular Degeneration Foundation

    Science.gov (United States)

    ... Macular Degeneration How The Eye Works as a Camera Anatomy of a Normal Human Eye ADA and ... Low Vision Depression and AMD Service Providers Research & Cases AMD Research Genetics of AMD Complement Factor H (CFH) Study on Lutein and AMD Study on Zeaxanthin and ...

  15. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Zika Virus May Cause More Serious Eye Damage in Babies Than Thought May 31, 2016 Study Compares Eylea, Lucentis and Avastin for Diabetic Macular Edema Jul 17, 2015 Top 5 Risk Factors for AMD Jan 29, 2014 Is Your ...

  16. What Is Macular Edema?

    Medline Plus

    Full Text Available ... Diabetic Macular Edema Jul 17, 2015 Top 5 Risk Factors for AMD Jan 29, 2014 Is Your Laser Pointer Dangerous ... Contact Us About the Academy Jobs at the Academy Financial Relationships with Industry Medical Disclaimer Privacy Policy Terms ...

  17. Genetics Home Reference: Stargardt macular degeneration

    Science.gov (United States)

    ... Twitter Home Health Conditions Stargardt macular degeneration Stargardt macular degeneration Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Stargardt macular degeneration is a genetic eye disorder that causes progressive ...

  18. 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...

  19. Limb-Girdle Muscular Dystrophy (LGMD)

    Science.gov (United States)

    ... Blog Donate Search MDA.org Close Limb-Girdle Muscular Dystrophy (LGMD) Share print email share facebook twitter google plus linkedin Limb-Girdle Muscular Dystrophy (LGMD) What is limb-girdle muscular dystrophy? Limb- ...

  20. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  1. Genetics Home Reference: tibial muscular dystrophy

    Science.gov (United States)

    ... Twitter Home Health Conditions Tibial muscular dystrophy Tibial muscular dystrophy Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Tibial muscular dystrophy is a condition that affects the muscles at ...

  2. 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.

  3. [Macular atrophy in Terson's syndrome].

    Science.gov (United States)

    Sánchez-Vicente, J L; Frau-Aguilera, L; Sánchez-Vicente, P; Herrador-Montiel, A; Rueda-Rueda, T; Castilla-Lázpita, A; Romera-Piñero, A; Medina-Tapia, A

    2015-01-01

    The case is presented on a 63-year-old patient with Terson's syndrome who complained of loss of visual acuity. The optical coherence tomography showed macular atrophy. The patient developed macular atrophy probably secondary to macular hemorrhage caused by the rupture of a cerebral aneurysm. Copyright © 2013 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  4. Therapeutic advances in muscular dystrophy

    OpenAIRE

    Leung, Doris G; Wagner, Kathryn R

    2013-01-01

    The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss therapeutic developments in 3 of the most common forms of muscular dystrophy: Duchenne muscular dystrophy, facioscapulohumeral muscular dystr...

  5. Duchenne muscular dystrophy.

    Science.gov (United States)

    Yiu, Eppie M; Kornberg, Andrew J

    2015-08-01

    Duchenne muscular dystrophy, an X-linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s. The use of corticosteroids, non-invasive respiratory support, and active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy. The clinical features, investigations and management of Duchenne muscular dystrophy are reviewed, as well as the latest in some of the novel therapies. © 2015 The Authors. Journal of Paediatrics and Child Health © 2015 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  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. Fuchs' dystrophy associated with radial keratotomy: Lamellar or perforating keratoplasty?

    Science.gov (United States)

    Rodriguez-Ausin, P; Antolin-Garcia, D; Santamaria Garcia, L; Blazquez-Fernandez, A-B

    2017-05-01

    A 70 year-old male patient with a history of radial keratotomy suffering from Fuchs' dystrophy and a cataract. The patient received a two-step surgery: lens phacoemulsification and intraocular lens implant, followed by descemet stripping automated endothelial keratoplasty in both eyes, four months later. There were no complications apart from a recurrent cystoid macular oedema in both eyes. The best corrected visual acuity was 20/40 both eyes, and the patient was satisfied. Descemet stripping automated endothelial keratoplasty may be considered as an alternative to penetrating keratoplasty in the case of endothelial dysfunction and radial keratotomy in patients with no corneal ectasia or significant stromal opacity. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Congenital muscular dystrophy in Jordanian children.

    Science.gov (United States)

    Al-Qudah, A A; Tarawneh, M

    1998-08-01

    This is a consecutive study on 28 patients who have been diagnosed as having congenital muscular dystrophy at Jordan University Hospital in the period from January 1990 to February 1997. Of 75 patients diagnosed as having muscle disease, 55 (73.3%) had muscular dystrophy. Of 55 muscular dystrophy patients, 28 (50.9%) had congenital muscular dystrophy, 11 (20%) had Duchenne muscular dystrophy, 9 (16.4%) had Becker muscular dystrophy, 4 (7.3%) had myotonic dystrophy, 2 (3.6%) had limb-girdle dystrophy, and 1 (1.8%) patient had facioscapulohumeral dystrophy. Age of onset of symptoms of congenital muscular dystrophy (hypotonia and weakness) was documented antenatally or in the first few months in the majority (92.9%) of patients. Parental consanguinity was documented in 21 (75%) of congenital muscular dystrophy cases, and family history of possible similar cases in 15 (53.6%). Congenital muscular dystrophy patients with normal cognitive milestones (n = 16; 57.1%) were slightly more common than patients with cognitive delay. In contrast to previous reports, congenital muscular dystrophy is probably more common in communities with high rates of parental consanguinity than other dystrophies. Our study adds significant support to the most recent literature on this finding.

  9. Muscular Dystrophy: Data and Statistics

    Science.gov (United States)

    ... listing of Medicaid or Children’s Health Insurance Program (CHIP) insurance in the medical record. Age in Years ( ... Oleszek J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net ). Trends with corticosteroid use in ...

  10. Wasting Mechanisms in Muscular Dystrophy

    Science.gov (United States)

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

    2013-01-01

    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. PMID:23669245

  11. Learning about Duchenne Muscular Dystrophy

    Science.gov (United States)

    Skip to main content Learning About Duchenne Muscular Dystrophy Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding ...

  12. Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy.

    Science.gov (United States)

    Matos, Rita; Beato, João; Silva, Marta; Silva, Sérgio; Brandão, Elisete; Falcão-Reis, Fernando; Penas, Susana

    2017-01-01

    To report a rare case of exudative maculopathy in a patient with facioscapulohumeral muscular dystrophy (FSHD), and its management. Observational case report. A 62-year-old man with genetically confirmed FSHD was referred to our department complaining of decreased visual acuity in his left eye. At presentation, right eye examination was unremarkable and best-corrected visual acuity (BCVA) was 20/20. Left eye BCVA was 20/100 and it presented a dense cataract with the evidence of macular lipid exudation. Cataract surgery combined with intravitreal bevacizumab improved BCVA to 20/20. Postoperative fundus examination disclosed focal macular retinal microvascular dilations with lipid exudation inferotemporal to the fovea. Fluorescein angiography highlighted these macular telangiectatic abnormalities but no peripheral lesions were detected. Spectral domain optical coherence tomography (SD-OCT) showed mild temporal retinal thickening, sparing the fovea. A diagnosis of exudative maculopathy due to macular telangiectasia secondary to FSHD was established. One year later, his left eye vision dropped to 20/32 and macular SD-OCT showed an aggravation of the intraretinal fluid and exudation. He was then submitted to a second intravitreal injection of bevacizumab followed by one angio-guided focal laser photocoagulation session, with a significant improvement. Twelve months later, his BCVA remained 20/20 on both eyes with no recurrence of exudation. The present work shows that in cases of visual-threatening macular exudation, intravitreal anti-vascular endothelial growth factor injections combined with focal laser photocoagulation may be a safe and effective treatment. This article also highlights that all FSHD patients should be screened for asymptomatic retinal vascular disorders.

  13. Macular Degeneration Prevention and Risk Factors

    Science.gov (United States)

    ... Support macular degeneration research to help find a cure. Give Now About Research Programs Leadership Partners Accountability Careers Research Research We Fund Alzheimer’s Disease Research Program Macular Degeneration Research Program National ...

  14. How Do People Cope with Muscular Dystrophy?

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Muscular Dystrophy: Other FAQs Basic information for topics, such as “ ... in this section. How do people cope with muscular dystrophy (MD)? Although MD presents many challenges in many ...

  15. What Are the Treatments for Muscular Dystrophy?

    Science.gov (United States)

    ... Pinterest Email Print What are the treatments for muscular dystrophy? No treatment is currently available to stop or reverse any form of muscular dystrophy (MD). Instead, certain therapies and medications aim to ...

  16. What Is Age-Related Macular Degeneration?

    Science.gov (United States)

    ... Stories Español Eye Health / Eye Health A-Z Age-Related Macular Degeneration Sections What Is Macular Degeneration? Who is at ... Low Vision: Making the Most of Low Vision Age-Related Macular Degeneration Vision Simulator AMD Pictures and Videos: What Does ...

  17. Infrastructure for Clinical Trials in Duchenne Dystrophy

    Science.gov (United States)

    2010-09-13

    sites. Review of Potential Grant submissions: Treatment of early cardiac systolic dysfunction in Duchenne muscular dystrophy with lisinopril or...revamped and implemented for two studies in Duchenne Muscular Dystrophy (DMD). CINRG’s public website has been revamped. One measurement clinical...SUBJECT TERMS Duchenne Muscular Dystrophy , CINRG, CQMS, coordinating center, electronic data capture 16. SECURITY CLASSIFICATION OF: 17. LIMITATION

  18. Macular Hole in Behcet's Disease

    Directory of Open Access Journals (Sweden)

    Shwu-Jiuan Sheu

    2004-11-01

    Full Text Available Behcet's disease is an inflammatory disorder of unknown cause, characterized by recurrent oral aphthous ulcers, genital ulcers, uveitis, and skin lesions. Ocular involvement occurs in 60-80% of patients with Behcet's disease and presents as panuveitis in most cases. Posterior segment involvement may lead to irreversible alterations and significant vision loss. The development of a partial or full-thickness macular hole, though rarely reported, may cause serious vision loss. In this report, we present two cases of macular hole in the worse eye of bilateral cases of Behcet's disease, and discuss the possible mechanisms and management in such cases.

  19. Progressive macular hypomelanosis: an overview

    NARCIS (Netherlands)

    Relyveld, Germaine N.; Menke, Henk E.; Westerhof, Wiete

    2007-01-01

    Progressive macular hypomelanosis (PMH) is a common skin disorder that is often misdiagnosed. Various authors have written about similar skin disorders, referring to them by different names, but we believe that all these similar disorders are part of the same entity.PMH is characterized by

  20. Age-Related Macular Degeneration.

    Science.gov (United States)

    Mehta, Sonia

    2015-09-01

    Age-related macular degeneration (AMD) is the leading cause of vision loss in the elderly. AMD is diagnosed based on characteristic retinal findings in individuals older than 50. Early detection and treatment are critical in increasing the likelihood of retaining good and functional vision. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Macular Edema - Rationale for Therapy.

    Science.gov (United States)

    Wolfensberger, Thomas J

    2017-01-01

    Macular edema represents the end-stage of multiple pathophysiological pathways in a multitude of ocular vascular, inflammatory, and other diseases. The rationale for clinical treatment of macular edema is based on the understanding and the inhibition of these pathophysiological mechanisms. When macular edema is caused by a generalized health problem such as diabetes, high blood pressure, or generalized inflammatory conditions, treatment of these generalized diseases can in many cases cure macular edema directly. In ocular diseases, the local exudation of fluid from blood vessels is governed by Starling's law as well as by intricate cellular mechanisms linked to the tight junctions in the inner and outer blood-retinal barrier. Drugs used in clinical practice, such as nonsteroidal anti-inflammatory drugs, corticosteroids, carbonic anhydrase inhibitors, and anti-vascular endothelial growth factor agents, all act in one way or another through these cellular mechanisms. Novel treatments such as neuroprotective agents like nerve growth factors, somatostatins and antiapoptotic agents like calpain, the glutamate blocker memantine, and different caspase inhibitors may in the future inhibit neuronal cell death in the retina by separate pathways. Using dimmed nocturnal illumination may be an additional novel method to reduce hypoxic stress during dark adaptation of the rod photoreceptors in diabetes. Successful surgical treatment of macular edema using vitrectomy and peeling relies, apart from the evident release of vitreomacular traction, on many other cellular and biochemical mechanisms activated by the surgery such as oxygenation of the inner retina, removal of the posterior hyaloid as a growth factor sink, and possible Müller cell remodeling with fluid redirection after internal limiting membrane peeling. © 2017 S. Karger AG, Basel.

  2. 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...

  3. Myotonic Dystrophy: An Anaesthetic Dilemma

    Directory of Open Access Journals (Sweden)

    N Gupta

    2009-01-01

    Full Text Available Myotonic dystrophy (dystrophia myotonica, DM is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. We present a 32-year-old female with adenexal mass posted for exploratory laparotomy. She was a known case of dilated cardiomyopathy (DCMP.The ECG suggested incomplete RBBB& LAHB& the ECHO revealed mild mitral regurgitation, tricuspid regurgitation, pulmonary artery hypertension with severe left ventricular dysfunction (ejection fraction of 30-35 %. General anaes-thesia (GA with epidural anaesthesia was planned. The patient was haemodynamically stable through out the surgi-cal procedure. The patient was reversed and shifted to post anaesthesia care unit. On the 2nd postoperative day patient developed respiratory distress and hypotension. ABG revealed Type 1 respiratory failure. Since the patient didn′t improve with oxygen therapy and nebulisation, she was intubated and shifted to ICU. Patient was tolerating the tube without sedation and relaxants so, consultant anaesthesiologist asked for neurologist referral to rule out myotonic dystrophy. Subsequent muscle biopsy and genetic analysis was suggestive of myotonic dystrophy. Despite all possible efforts we were unable to wean her off the ventilator for 390 days. Patients with myotonic dystrophy are a challenge to the attending anaesthesiologist. These patients can be very well managed with preoperative optimized medical treatment and well-planned perioperative care.

  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. 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

  7. Genetics Home Reference: lattice corneal dystrophy type I

    Science.gov (United States)

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

  8. Genetics Home Reference: Emery-Dreifuss muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used ...

  9. Genetics Home Reference: limb-girdle muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Limb-girdle muscular dystrophy is a term for a group of diseases ...

  10. Genetics Home Reference: LAMA2-related muscular dystrophy

    Science.gov (United States)

    ... Health Conditions LAMA2-related muscular dystrophy LAMA2-related muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description LAMA2 -related muscular dystrophy is a disorder that causes weakness and wasting ( ...

  11. Precursors of Age-Related Macular Degeneration

    DEFF Research Database (Denmark)

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

    2013-01-01

    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...... activity, the age- and sex adjusted odds ratio being 0.33 (95% confidence interval 0.13-0.82, P=0.016) for participants who were physically active more than 7 h/week compared with participants active 0-2 h/week. In women, macular drusen >63µm were associated with higher serum triglycerides (P=0...... 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...

  12. Postreceptoral contribution to macular dysfunction in retinitis pigmentosa.

    Science.gov (United States)

    Falsini, B; Iarossi, G; Porciatti, V; Merendino, E; Fadda, A; Cermola, S; Buzzonetti, L

    1994-12-01

    To understand the sites of macular dysfunction in retinitis pigmentosa by evaluating focal electroretinogram (FERG) fundamental and second harmonic components, which are dominated by the activity of the outer and inner retina, respectively. FERGs were recorded in response to a uniform field (9 degrees x 9 degrees) flickered sinusoidally at either 8 Hz or 32 Hz. The fundamental components of the responses to both the 8-Hz and 32-Hz stimuli and the second harmonic of the response to the 8-Hz stimulus were measured in their amplitudes and phases. Normal subjects (n = 17), as well as patients with typical retinitis pigmentosa (n = 22), cone dystrophy (CD, n = 7) and X-linked congenital retinoschisis (XLR, n = 5) served as subjects. The fundamental (32-Hz)-second harmonic (8 Hz) amplitude ratio was taken as an index of the relative function of outer-inner layers of the macula. Compared to controls, patients with retinitis pigmentosa showed losses of both FERG fundamental and second harmonic and an increase of the fundamental-second harmonic ratio. Patients with CD also showed losses of both fundamental and second harmonic, but the fundamental-second harmonic ratio was normal. Patients with XLR had a selective loss of the second harmonic, resulting in an increased fundamental-second harmonic ratio. On average, the fundamental-second harmonic ratio of patients with retinitis pigmentosa tended to increase with age. The results suggest that in retinitis pigmentosa, both receptoral and postreceptoral sites contribute to macular dysfunction. This differs from CD and XLR, where losses appear more selective for the outer and the inner retina. Postreceptoral losses in retinitis pigmentosa may become larger with increasing age.

  13. Laser therapy and macular degeneration

    Science.gov (United States)

    Menchini, Ugo; Virgili, Gianni; Giansanti, Fabrizio; Giacomelli, Giovanni; Cappelli, Stefania

    2001-10-01

    Among macular diseases, choroidal neovascularization (CNV) is one of the most common causes of visual loss, especially in the form associated with age-related macular degeneration and pathologic myopia. Research on these diseases has recently evaluated new treatment modalities that use laser light differently; among these, photodynamic therapy (PDT) has been introduced in the clinical practice, allowing us to expand the possibility of reducing visual loss in patients affected by CNV. With PDT, a photosensitizer (verteporfin, VisudyneTM) is injected intravenously, and it selectively binds to new vessels; low-power laser light exposure then activates the drug, leading to oxidative damage of the endothelium and new vessels thrombosis. Yet, other therapies, such as transpupillary termotherapy, or the use of photocoagulation to cause feeder-vessel occlusion, could proof effective, but they need further investigation.

  14. Age-related macular degeneration

    DEFF Research Database (Denmark)

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

    2002-01-01

    Age-related macular degeneration (AMD) is a common macular disease affecting elderly people in the Western world. It is characterised by the appearance of drusen in the macula, accompanied by choroidal neovascularisation (CNV) or geographic atrophy. The disease is more common in Caucasian...... individuals than in pigmented races. In predominantly Caucasian populations, the age-standardised prevalence of AMD in at least one eye is 7760 cases per million. The age-standardised cumulated 1-year incidence of AMD in at least one eye is 1051 cases per million individuals. AMD is the most important single...... cause of blindness among Caucasian individuals in developed countries. Blindness resulting from AMD rarely occurs before age 70, and most cases occur after age 80. The age-standardised 1-year incidence of legal blindness resulting from AMD is 212 cases per million. Two-thirds of AMD cases have CNV...

  15. Genetics Home Reference: infantile neuroaxonal dystrophy

    Science.gov (United States)

    ... optic nerve) often occur in infantile neuroaxonal dystrophy . Hearing loss may also develop. Children with this disorder experience progressive deterioration of cognitive functions (dementia), and ...

  16. Morbidity in reflex sympathetic dystrophy

    OpenAIRE

    Murray, C; Cohen, A.; Perkins, T.; Davidson, J; Sills, J

    2000-01-01

    Reflex sympathetic dystrophy (RSD), an unusual diagnosis in general paediatrics, is well recognised by paediatric rheumatologists. This study reports the presentation and the clinical course of 46 patients (35 female, age range 8-15.2) with RSD. The patients saw professionals from an average of 2.3 specialties (range 1-5). Twenty five (54%) had a history of trauma. Median time to diagnosis was 12 weeks (range 1-130). Many children had multiple investigations and treatments. Once d...

  17. Myotonic dystrophy in Ancient Egypt.

    Science.gov (United States)

    Cattaino, G; Vicario, L

    1999-01-01

    Amenhotep IV, better known as Akhenaton, the heretical pharaoh, was a king of the New Kingdom of Ancient Egypt. Statues and reliefs of him show an unhealthy man whose body has abnormal features. By studying the pictures of Akhenaton (the mummy has not yet been found), we conclude that he may have been affected by myotonic dystrophy (MD). Moreover, the available data on his family suggest that MD may have caused the end of the royal bloodline of the Eighteenth Dynasty.

  18. Macular thickness and macular volume measurements using spectral domain optical coherence tomography in normal Nepalese eyes

    Directory of Open Access Journals (Sweden)

    Pokharel A

    2016-03-01

    Full Text Available Amrit Pokharel,1 Gauri Shankar Shrestha,2 Jyoti Baba Shrestha2 1Department of Ophthalmology, Kathmandu Medical College Teaching Hospital, 2B P Koirala Lions Centre for Ophthalmic Studies, Institute of Medicine, Kathmandu, Nepal Purpose: To record the normative values for macular thickness and macular volume in normal Nepalese eyes. Methods: In all, 126 eyes of 63 emmetropic subjects (mean age: 21.17±6.76 years; range: 10–37 years were assessed for macular thickness and macular volume, using spectral domain-optical coherence tomography over 6×6 mm2 in the posterior pole. A fast macular thickness protocol was employed. Statistics such as the mean, median, standard deviation, percentiles, and range were used, while a P-value was set at 0.05 to test significance. Results: Average macular thickness and total macular volume were larger in males compared to females. With each year of increasing age, these variables decreased by 0.556 µm and 0.0156 mm3 for average macular thickness and total macular volume, respectively. The macular thickness was greatest in the inner superior section and lowest at the center of the fovea. The volume was greatest in the outer nasal section and thinnest in the fovea. The central subfield thickness (r=-0.243, P=0.055 and foveal volume (r=0.216, P=0.09 did not correlate with age. Conclusion: Males and females differ significantly with regard to macular thickness and macular volume measurements. Reports by other studies that the increase in axial length reduced thickness and volume, were negated by this study which found a positive correlation among axial length, thickness, and volume. Keywords: macular thickness, macular volume, optical coherence tomography, Nepal

  19. 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.

  20. Myotonic dystrophy: a retrospective diagnosis | Jain | Southern ...

    African Journals Online (AJOL)

    Myotonic dystrophy is not commonly encountered in anaesthetic practice and its existence in a patient can easily go undetected, leading to intraoperative and postoperative complications. We report a case of a 45-year-old female without any typical features of myotonic dystrophy, who presented at our hospital for a ...

  1. Association of age-related macular degeneration and reticular macular disease with cardiovascular disease.

    Science.gov (United States)

    Rastogi, Neelesh; Smith, R Theodore

    2016-01-01

    Age-related macular degeneration is the leading cause of adult blindness in the developed world. Thus, major endeavors to understand the risk factors and pathogenesis of this disease have been undertaken. Reticular macular disease is a proposed subtype of age-related macular degeneration correlating histologically with subretinal drusenoid deposits located between the retinal pigment epithelium and the inner segment ellipsoid zone. Reticular lesions are more prevalent in females and in older age groups and are associated with a higher mortality rate. Risk factors for developing age-related macular degeneration include hypertension, smoking, and angina. Several genes related to increased risk for age-related macular degeneration and reticular macular disease are also associated with cardiovascular disease. Better understanding of the clinical and genetic risk factors for age-related macular degeneration and reticular macular disease has led to the hypothesis that these eye diseases are systemic. A systemic origin may help to explain why reticular disease is diagnosed more frequently in females as males suffer cardiovascular mortality at an earlier age, before the age of diagnosis of reticular macular disease and age-related macular degeneration. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. PHOTODYNAMIC THERAPY OF MACULAR DEGENERATION

    Directory of Open Access Journals (Sweden)

    Davorin Sevšek

    2004-05-01

    Full Text Available Background. University Eye Clinic in Ljubljana began to perform a photodynamic therapy (PDT in July 2002. Up to September 2003 there were 51 PDT interventions on 36 eyes. Almost half of the eyes had one or more reinterventions. PDT was used on 29 eyes with age related macular degeneration (AMD. Just before the treatment all of them had visual acuity (VA 6/60 or better and there were predominantly classical or classical choroidal neovascular (CNV membranes. Most VA did not changed significantly in follow-up visits but diameter of CNV membranes was obviously reduced. In macular degeneration due to pathologic myopia (MMD, photodynamic therapy was performed on 7 eyes with mainly occult CNV and VA was 12/60 or better. VA was mostly better in follow-up visits than before treatment with PDT.Conclusions. There were no serious complications during and after PDT interventions. Two patients had back pain during the infusion of Verteporfin but there was no need to stop the intervention.

  3. Age-related macular degeneration

    DEFF Research Database (Denmark)

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

    2002-01-01

    Age-related macular degeneration (AMD) is a common macular disease affecting elderly people in the Western world. It is characterised by the appearance of drusen in the macula, accompanied by choroidal neovascularisation (CNV) or geographic atrophy. The disease is more common in Caucasian individ......, photodynamic therapy with verteporfin is the treatment of choice. Photodynamic therapy is also effective in eyes with pure occult CNV and evidence of recent disease progression. For new subfoveal CNV with poor vision and recurrent CNV, laser photocoagulation can be considered....... individuals than in pigmented races. In predominantly Caucasian populations, the age-standardised prevalence of AMD in at least one eye is 7760 cases per million. The age-standardised cumulated 1-year incidence of AMD in at least one eye is 1051 cases per million individuals. AMD is the most important single...... (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...

  4. Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa.

    Science.gov (United States)

    Liew, Gerald; Moore, Anthony T; Bradley, Patrick D; Webster, Andrew R; Michaelides, Michel

    2017-11-15

    Retinitis pigmentosa is the most common inherited retinal dystrophy. The factors associated with visual acuity in patients with other retinal diseases are well known, but are poorly understood in patients with retinitis pigmentosa. This knowledge is useful for prognosis and to support secondary endpoints in clinical trials. We conducted a cross-sectional study of consecutive patients recruited from the inherited retinal disease service from January 2012 to December 2012. Central macular thickness (CMT) was measured using spectral domain optical coherence tomography. Data were available for 81 patients and 162 eyes. After multivariable analyses, older age, earlier age of onset of symptoms, and thicker CMT were associated with lower visual acuity. Gender and inheritance pattern were not associated with visual acuity. Each decade older age, younger age of onset, and thicker CMT was associated with 0.12, 0.10, and 0.11 worse logarithm of the minimal angle of resolution units of visual acuity, respectively (p retinitis pigmentosa.

  5. Rehabilitation of the muscular dystrophies.

    Science.gov (United States)

    Pangilinan, Percival H; Hornyak, Joseph E

    2013-01-01

    The muscular dystrophies (MD) are a heterogeneous group of inherited disorders characterized by findings on muscle biopsy. In general, they feature progressive muscle wasting and weakness. In addition to the musculoskeletal system, direct and indirect effects can be seen in a variety of organ systems. These issues create challenges in patients with MD for ambulation and mobility, self-care, pain, fatigue, and community involvement. Because of its progressive nature and wide variety of pathophysiological mechanisms, patients with MD require individualized rehabilitation care. This chapter reviews specific rehabilitation needs and treatment of patients with MD. Copyright © 2013 Elsevier B.V. All rights reserved.

  6. 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)

  7. Duchenne muscular dystrophy: current cell therapies.

    Science.gov (United States)

    Sienkiewicz, Dorota; Kulak, Wojciech; Okurowska-Zawada, Bożena; Paszko-Patej, Grażyna; Kawnik, Katarzyna

    2015-07-01

    Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy. This review presents current therapeutic methods for Duchenne muscular dystrophy, based on scientific articles in English published mainly in the period 2000 to 2014. We used the PubMed database to identify and review the most important studies. An analysis of contemporary studies of stem cell therapy and the use of granulocyte colony-stimulating factor (G-CSF) in muscular dystrophy was performed.

  8. Clinical reach progress of idiopathic macular hole

    National Research Council Canada - National Science Library

    Hui-Lan Sun; Li-Ke Xie; Xiao-Feng Hao; Zhi-Fang Zhang; Le Hou; Yi-Xin Qi; Jing Ming

    2017-01-01

    .... It's one of the most important fundus macular degeneration. According to the different causes and the anatomical site, the lesion has a different classification, and its etiology and pathogenesis are diverse and complex...

  9. [Macular hole associated with paintball ocular trauma].

    Science.gov (United States)

    Michalewska, Zofia; Michalewski, Janusz; Nawrocka, Zofia; Nawrocki, Jerzy

    2007-01-01

    A presentation of two patients with macular hole after ocular trauma due to paintball. HRT, OCT, SOCT and visual field examinations were performed preoperatively and on 3 postoperative visits. Patients underwent pars plana vitrectomy with trypan blue staining. Final visual acuity 0.6 was achieved in the first patient 6 months after surgery. Best corrected visual acuity 0.2 was achieved in the second patient 3 months after surgery. Macular hole closure was observed on OCT, SOCT, HRT and indirect ophthalmoscopy examination. Pars plana vitrectomy with trypan blue staining and fluid-air exchange is a safe procedure in posttraumatic macular holes. HRT, Oct and SOCT are valuable tools for diagnosis of macular holes and for control after surgical intervention.

  10. TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.

    Science.gov (United States)

    Gonzalez-Rodriguez, Johanna; Ramirez-Miranda, Arturo; Hernandez-Da Mota, Sergio E; Zenteno, Juan C

    2014-08-01

    The purpose of our study was to describe the results of molecular screening of TGFBI, CHST6, and GSN genes in a group of Mexican patients with different stromal corneal dystrophies (CD). A total of 16 CD Mexican patients pertaining to nine different pedigrees were subjected to a complete ophthalmological investigation. A clinical diagnosis of lattice CD was performed in 10 patients from five pedigrees. Three patients from two pedigrees were diagnosed with granular CD type 2, two patients with unrelated probands had Finnish-type corneal amyloidosis, and one patient had macular CD. Genetic analysis included DNA isolation from blood leukocytes and polymerase chain reaction (PCR) amplification and direct nucleotide sequencing of TGFBI, CHST6, and GSN genes. Seven lattice CD patients from four unrelated families had an identical p.H626R mutation in TGFBI, three patients from a single lattice CD family carried a p.R124C substitution in TGFBI, and a granular type 2 CD pedigree was demonstrated to carry a heterozygous TGFBI p.M619K substitution. A patient having Finnish-type corneal amyloidosis had a p.D187N mutation in GSN. Finally, molecular analysis of CHST6 in a patient with macular CD disclosed the presence of a homozygous p.Y110C change. This study improves the knowledge of the genetic features of Mexican patients with corneal stromal dystrophies by identifying mutations in the TGFBI, CHST6, and GSN genes. Genetic screening of larger samples of patients from distinct ethnic groups would be of great importance for a better understanding of the mutational spectrum of stromal CD.

  11. What Are the Treatments for Muscular Dystrophy?

    Science.gov (United States)

    ... NICHD Research Information Find a Study More Information Preeclampsia and Eclampsia About NICHD Research Information Find a ... Facebook Twitter Pinterest Email Print What are the treatments for muscular dystrophy? No treatment is currently available ...

  12. Physical Therapy and Facioscapulohumeral Muscular Dystrophy (FSHD)

    Science.gov (United States)

    Physical Therapy & FSHD Facioscapulohumeral Muscular Dystrophy A Guide for Patients & Physical Therapists Authors: Wendy M. King, P.T., ... expertise and patient preferences. The goals of any physical therapy plan of care are to assist patients to:  ...

  13. An unusual variant of Becker muscular dystrophy

    NARCIS (Netherlands)

    de Visser, M.; Bakker, E.; Defesche, J. C.; Bolhuis, P. A.; van Ommen, G. J.

    1990-01-01

    We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed

  14. 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.

  15. 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.

  16. Duchenne muscular dystrophy: current cell therapies

    OpenAIRE

    Sienkiewicz, Dorota; Kulak, Wojciech; Okurowska-Zawada, Bożena; Paszko-Patej, Grażyna; Kawnik, Katarzyna

    2015-01-01

    Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy. This review presents current therapeutic methods for Duchenne muscular dystrophy, based on scientific articles in English published mainly in the period 2000 to 2014. We used the PubMed database to identify and review the most important studies. An analysis of contemporary studies of stem cel...

  17. Duchenne muscular dystrophy: the management of scoliosis.

    Science.gov (United States)

    Archer, James E; Gardner, Adrian C; Roper, Helen P; Chikermane, Ashish A; Tatman, Andrew J

    2016-09-01

    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. The Frequency of Serous Macular Detachment in Diabetic Macular Edema

    Directory of Open Access Journals (Sweden)

    Onur Yaya

    2015-05-01

    Full Text Available Objectives: To investigate the epidemiology and frequency of serous macular detachment (SMD in patients diagnosed with diabetic macular edema (DME. Materials and Methods: Hundred and forty-three eyes of 104 patients with DME were examined retrospectively. According to the results of OCT, the patients were separated into two groups; patients diagnosed with SMD and DME (group 1 and patients diagnosed with DME (group 2. They were assessed based on demographic characteristics, average age, duration of diabetes mellitus (DM, hypertension (HT history, best-corrected visual acuity, and diabetic retinopathy stages. Results: The average age of the patients was 61±8.7 years. Forty-three patients (41.3% were female and 61 patients (58.7% were male. Fifty-four of 104 patients (51.9% had DME with SMD. 21 (38.8% patients had bilateral SMD. In group 1, 31 patients were male (57.4% and 23 patients were female (42.6%. In group 2, 30 (60% patients were male and 20 (40% patients were female. In group 1, average age was 60.2±9.6 and the average duration of DM was 12.2±7.0 years, whereas the average age was 61.9±7.6 and the average duration of DM was 14.06±6.8 years in group 2. Forty-two patients in group 1 (77.8% and 30 patients (60% in group 2 had history of HT. Before the treatment, the average best-corrected visual acuity was found to be 0.30±0.24 in group 1 and 0.32±0.25 in group 2. Conclusion: Today, it is thought that diabetic maculopathy is the leading cause of SMD and it is a determining factor of treatment applications. In our study, we aimed at investigating the frequency of SMD in DME and the risk factors for the development of SMD. Although there were some differences between the factors, only the history of HT was found statistically higher in patients with SMD (p=0.04. (Turk J Ophthalmol 2015; 45: 92-96

  19. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy

    NARCIS (Netherlands)

    de Visser, M.; de Voogt, W. G.; la Rivière, G. V.

    1992-01-01

    We report a study, assessing involvement of the heart in 33 familial cases of Becker muscular dystrophy (BMD), 31 familiar cases of facioscapulohumeral (FSH) dystrophy, and 27 familial cases of Bethlem myopathy. In the patients with BMD, correlations of myocardial involvement with age and extent of

  20. Macular dystrophy associated with Kjellin’s syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Vinícius Monteiro de Castro

    2015-04-01

    Full Text Available Hereditary spastic paraplegia (HSP is characterized by weakness and spasticity of the lower extremities. Kjellin’s syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin’s syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging. The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination.

  1. Morbidity in reflex sympathetic dystrophy.

    Science.gov (United States)

    Murray, C S; Cohen, A; Perkins, T; Davidson, J E; Sills, J A

    2000-03-01

    Reflex sympathetic dystrophy (RSD), an unusual diagnosis in general paediatrics, is well recognised by paediatric rheumatologists. This study reports the presentation and the clinical course of 46 patients (35 female, age range 8-15.2) with RSD. The patients saw professionals from an average of 2.3 specialties (range 1-5). Twenty five (54%) had a history of trauma. Median time to diagnosis was 12 weeks (range 1-130). Many children had multiple investigations and treatments. Once diagnosis was made, treatment followed with physiotherapy and analgesics. Median time to recovery was seven weeks (range 1-140), with 27.5% relapsing. Nine children required assessment by the child and adolescent psychiatry team. This disease, though rare, has significant morbidity and it is therefore important to raise clinicians' awareness of RSD in childhood. Children with the condition may then be recognised and referred for appropriate management earlier, and spared unnecessary investigations and treatments which may exacerbate the condition.

  2. Reflex sympathetic dystrophy in childhood.

    Science.gov (United States)

    Tekgül, Hasan; Serdaroglu, Guil; Uyar, Meltem; Tütüncüoglu, Sarenur

    2002-04-01

    Reflex sympathetic dystrophy is characterized by constant burning pain and hyperesthesia in an extremity. Lower extremities are usually affected. Pain is accompanied by swelling, sweating, vasomotor instability and sometimes trophic changes. There may be a history of minor injury or not. Muscle spasms, myoclonus or focal dystonia may occur. Diffuse pain, loss of function and autonomic dysfunction are three main criteria suggested for diagnosis. Symptoms can last a few days to as long as a year. In this report we present a girl with multiple limb involvement of stage I RSD. The sympathetic skin responses were tested during a remission period. She had milder attacks with a recurrence rate of 4 per year in the following three years from onset.

  3. [Idiopathic macular hole: history and status quo review].

    Science.gov (United States)

    Samoylov, A N; Khaibrakhmanov, T R; Fazleeva, G A; Samoylova, P A

    2017-01-01

    The article reviews the literature on one of the topical problems of vitreoretinal surgery - idiopathic macular holes. The history, concept, classification and diagnostics, as well as surgical and alternative treatment methods of macular holes are explored.

  4. Genetics Home Reference: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Printable PDF Open All Close All ... view the expand/collapse boxes. Description Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy ( APECED ) is an inherited condition that ...

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. MACULAR CHOROIDAL VOLUME CHANGES AFTER INTRAVITREAL BEVACIZUMAB FOR EXUDATIVE AGE-RELATED MACULAR DEGENERATION.

    Science.gov (United States)

    Palkovits, Stefan; Seidel, Gerald; Pertl, Laura; Malle, Eva M; Hausberger, Silke; Makk, Johanna; Singer, Christoph; Osterholt, Julia; Herzog, Sereina A; Haas, Anton; Weger, Martin

    2017-12-01

    To evaluate the effect of intravitreal bevacizumab on the macular choroidal volume and the subfoveal choroidal thickness in treatment naïve eyes with exudative age-related macular degeneration. The macular choroidal volume and the subfoveal choroidal thickness were measured using enhanced depth imaging optical coherence tomography. After a screening examination, each patient received 3 monthly intravitreal injections of 1.25 mg bevacizumab. One month after the third injection was a final assessment. Forty-seven patients with a mean age of 80 ± 6.4 years were included. The macular choroidal volume decreased significantly from median 4.1 mm (interquartile range 3.4-5.9) to median 3.9 mm (interquartile range 3.1-5.6) between the baseline and final examination (difference -0.46 mm, 95% confidence interval: -0.57 to 0.35, P macular choroidal volume at baseline and subfoveal choroidal thickness at baseline were not associated with the response to treatment. The macular choroidal volume and the subfoveal choroidal thickness decreased significantly after 3 monthly bevacizumab injections for exudative age-related macular degeneration.

  10. Clinical reach progress of idiopathic macular hole

    Directory of Open Access Journals (Sweden)

    Hui-Lan Sun

    2017-02-01

    Full Text Available Idiopathic macular hole(IMHis unequivocal inducement lead to limiting full-thickness defect of retinal neurepithelium layerin macular region. It's one of the most important fundus macular degeneration. According to the different causes and the anatomical site, the lesion has a different classification, and its etiology and pathogenesis are diverse and complex. But along with the continuous renewal of ophthalmologic examination instrument and the continuous improvement of surgical technique, treatment of IMH is diversified and treatment effect is more obvious. Not only that, IHM preventive treatment also gradually get used in clinical. In this paper, we reviewed the progress of IMH in terms of the pathogenesis, relative examination, surgical treatment, preoperative prognostic evaluation and so on.

  11. 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

  12. [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.

  13. 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

  14. Duchenne muscular dystrophy: Case report and review

    Directory of Open Access Journals (Sweden)

    Rupam Sinha

    2017-01-01

    Full Text Available Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.

  15. Mitochondrial disorders in progressive muscular dystrophies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of different progressive muscular dystrophies. It describes changes in Duchenne, limb-girdle, facial scapulohumeral (Landuzi—Degerina muscular dystrophies. The review is based on both clinical and experimental animal studies. Along with the implication of mitochondria in the pathogenesis of the diseases, it describes muscular dystrophy treatment options compensating for energy disorders and overcoming oxidative stress and mitochondrial dysfunction. Mitochondrial studies in different muscle diseases hand physicians treatment modalities that fail to lead to recovery, but compensate for disorders caused by mutations in the genetic apparatus. 

  16. Duchenne muscular dystrophy: Case report and review.

    Science.gov (United States)

    Sinha, Rupam; Sarkar, Soumyabrata; Khaitan, Tanya; Dutta, Soumyajit

    2017-01-01

    Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.

  17. Circulating Biomarkers for Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Aartsma-Rus, Annemieke; Spitali, Pietro

    2015-07-22

    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.

  18. 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...... with closed stage 2 or 3 macular holes were recruited from a randomised clinical trial comparing: (1) vitrectomy without ILM peeling; (2) vitrectomy with 0.05% isotonic ICG-assisted ILM peeling; and (3) vitrectomy with 0.15% trypan blue-assisted ILM peeling. Contrast-enhanced Stratus optical coherence...... between subgroups. Conclusions: Poor vision after 12 months despite macular hole closure was associated with attenuation and disruption of the foveolar photoreceptor matrix. The extent of attenuation and disruption was independent of peeling and staining....

  19. Assessment of Macular Function during Vitrectomy: New Approach Using Intraoperative Focal Macular Electroretinograms.

    Directory of Open Access Journals (Sweden)

    Celso Soiti Matsumoto

    Full Text Available To describe a new technique to record focal macular electroretinograms (FMERGs during vitrectomy to assess macular function.Intraoperative FMERGs (iFMERGs were recorded in ten patients (10 eyes who undergo vitrectomy. iFMERGs were elicited by focal macular stimulation. The stimulus light was directed to the macular area through a 25 gauge (25G glass fiber optic bundle. Background light was delivered through a dual chandelier-type light fiber probe. Focal macular responses elicited with combinations of stimulus and background luminances were analyzed.A stimulus luminance that was approximately 1.75 log units brighter than the background light was able to elicit focal macular responses that were not contaminated by stray light responses. Thus, a stimulus luminance of 160 cd/m2 delivered on a background of 3 cd/m2 elicited iFMEGs from only the stimulated area. This combination of stimulus and background luminances did not elicit a response when the stimulus was projected onto the optic nerve head. The iFMERGs elicited by a 10° stimulus with a duration of 100 ms and an interstimulus interval of 150 ms consisted of an a-, b-, and d-waves, the oscillatory potentials, and the photopic negative response (PhNR.Focal ERGs with all components can be recorded from the macula and other retinal areas during vitreous surgery. This new technique will allow surgeons to assess the function of focal areas of the retina intraoperatively.

  20. Bilateral Simultaneous Macular Infarction with Spontaneous Visual ...

    African Journals Online (AJOL)

    2018-01-30

    Jan 30, 2018 ... To report the rare and dramatic event of bilateral macular infarction in a sickle cell hemoglobinopathy (SS genotype) patient, resulting in bilateral severe reduction in visual acuity. Without any intervention, the patient's vision gradually improved over the follow‑up period. Central visual field defects however ...

  1. Bilateral Simultaneous Macular Infarction with Spontaneous Visual ...

    African Journals Online (AJOL)

    To report the rare and dramatic event of bilateral macular infarction in a sickle cell hemoglobinopathy (SS genotype) patient, resulting in bilateral severe reduction in visual acuity. Without any intervention, the patient's vision gradually improved over the follow‑up period. Central visual field defects however persisted.

  2. 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.

  3. Image Analysis of Macular Laser Lesions.

    Science.gov (United States)

    1986-01-01

    retina are often difficult to detect and may in fact change in opacity, color , or size over time. Such changes often are undetected or under utilized with...difference;s in pigmentary migration as well as repair processes in these areas. It is well known that macular pigment (xanthrochrome) as well as

  4. NONSUPINE POSITIONING IN MACULAR HOLE SURGERY

    DEFF Research Database (Denmark)

    Alberti, Mark; la Cour, Morten

    2016-01-01

    PURPOSE: To determine whether nonsupine positioning (NSP) is noninferior to face-down positioning (FDP) in full-thickness macular hole (FTMH) surgery. METHODS: This is a single-center, open-label, randomized controlled trial. Between October 2013 and October 2014, pseudophakic participants underw...

  5. 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...

  6. 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…

  7. 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,…

  8. The heart in limb girdle muscular dystrophy

    NARCIS (Netherlands)

    van der Kooi, A. J.; de Voogt, W. G.; Barth, P. G.; Busch, H. F.; Jennekens, F. G.; Jongen, P. J.; de Visser, M.

    1998-01-01

    OBJECTIVE: To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes. DESIGN: In 26 autosomal dominant, 38 autosomal recessive, and 33 sporadic strictly defined patients with limb girdle

  9. 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

  10. Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

    Directory of Open Access Journals (Sweden)

    Masayuki Nakamori

    2017-10-01

    Full Text Available Summary: Myotonic dystrophy types 1 (DM1 and 2 (DM2 are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively. Although both disorders are clinically similar, congenital myotonic dystrophy (CDM, a severe DM form, is found only in DM1. CDM is also characterized by muscle fiber immaturity not observed in adult DM, suggesting specific pathological mechanisms. Here, we revealed upregulation of the interleukin-6 (IL-6 myokine signaling pathway in CDM muscles. We also found a correlation between muscle immaturity and not only IL-6 expression but also expanded CTG repeat length and CpG methylation status upstream of the repeats. Aberrant CpG methylation was associated with transcriptional dysregulation at the repeat locus, increasing the toxic RNA burden that upregulates IL-6. Because the IL-6 pathway is involved in myocyte maturation and muscle atrophy, our results indicate that enhanced RNA toxicity contributes to severe CDM phenotypes through aberrant IL-6 signaling. : Congenital myotonic dystrophy (CDM manifests characteristic genetic (very large CTG repeat expansions, epigenetic (CpG hypermethylation upstream of the repeat, and phenotypic (muscle immaturity features not seen in adult DM. Nakamori et al. find phenotype-genotype and epigenotype correlation in CDM muscle and reveal involvement of the IL-6 myokine signaling pathway in the disease process. Keywords: CTCF, ER stress, IL-6, muscular dystrophy, NF-κB, trinucleotide, cytokine, splicing

  11. Hereditary muscular dystrophies and the heart

    NARCIS (Netherlands)

    Hermans, M. C. E.; Pinto, Y. M.; Merkies, I. S. J.; de Die-Smulders, C. E. M.; Crijns, H. J. G. M.; Faber, C. G.

    2010-01-01

    Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial fibres may be affected by the dystrophic process. The incidence and nature of cardiac involvement vary with different

  12. Brain MRI in Congenital Muscular Dystrophies

    OpenAIRE

    J Gordon Millichap

    1997-01-01

    Magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) complicated by cerebral anomalies were analysed from data collected at several Departments of Child Neurology, The Netherlands: Free University Hospital, and Emma Children’s Hospital, Amsterdam; Sophia Children’s Hospital, Rotterdam; Leiden University Hospital; Groningen University Hospital; and St Radboud University Hospital, Nijmegen.

  13. Prevalence of congenital muscular dystrophy in Italy

    Science.gov (United States)

    Graziano, Alessandra; Bianco, Flaviana; D'Amico, Adele; Moroni, Isabella; Messina, Sonia; Bruno, Claudio; Pegoraro, Elena; Mora, Marina; Astrea, Guja; Magri, Francesca; Comi, Giacomo P.; Berardinelli, Angela; Moggio, Maurizio; Morandi, Lucia; Pini, Antonella; Petillo, Roberta; Tasca, Giorgio; Monforte, Mauro; Minetti, Carlo; Mongini, Tiziana; Ricci, Enzo; Gorni, Ksenija; Battini, Roberta; Villanova, Marcello; Politano, Luisa; Gualandi, Francesca; Ferlini, Alessandra; Muntoni, Francesco; Santorelli, Filippo Maria; Bertini, Enrico; Pane, Marika

    2015-01-01

    Objective: We provide a nationwide population study of patients with congenital muscular dystrophy in Italy. Methods: Cases were ascertained from the databases in all the tertiary referral centers for pediatric neuromuscular disorders and from all the genetic diagnostic centers in which diagnostic tests for these forms are performed. Results: The study includes 336 patients with a point prevalence of 0.563 per 100,000. Mutations were identified in 220 of the 336 (65.5%). The cohort was subdivided into diagnostic categories based on the most recent classifications on congenital muscular dystrophies. The most common forms were those with α-dystroglycan glycosylation deficiency (40.18%) followed by those with laminin α2 deficiency (24.11%) and collagen VI deficiency (20.24%). The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively). Conclusions: Our study provides for the first time comprehensive epidemiologic information and point prevalence figures for each of the major diagnostic categories on a large cohort of congenital muscular dystrophies. The study also reflects the diagnostic progress in this field with an accurate classification of the cases according to the most recent gene discoveries. PMID:25653289

  14. 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

  15. Prevalence of generalized retinal dystrophy in Denmark

    DEFF Research Database (Denmark)

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

    2014-01-01

    . 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...

  16. 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…

  17. Duchenne muscular dystrophy - a molecular service

    African Journals Online (AJOL)

    In 1987 a carrier detection and prenatal diagnostic service for. Duchenne muscular dystrophy using molecular technology was instituted at the Department of Human Genetics, Uni- versity of Cape Town, to serve affe.cted families in southern. Africa. DNA samples from 100 affected male subjects and. 350 of their relatives ...

  18. 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.

  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. Genetics Home Reference: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

    Science.gov (United States)

    ... alopecia, and nail dystrophy T-cell immunodeficiency, congenital alopecia, and nail dystrophy Printable PDF Open All Close ... expand/collapse boxes. Description T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe ...

  1. Reading newsprint but not headlines: pitfalls in measuring visual acuity and color vision in patients with bullseye maculopathy and other macular scotomas.

    Science.gov (United States)

    Sunness, Janet S

    2008-01-01

    To illustrate the confounding factors when assessing visual acuity and color vision in a patient with a bullseye macular scotoma in one eye and a horseshoe of atrophy sparing the fovea in the fellow eye. Case report. Visual acuity, color vision, and scanning laser ophthalmoscope analysis. The patient with geographic atrophy from age-related macular degeneration in both eyes had visual acuity of 20/40- in the right eye and 20/40+ in the left eye. She reported that she could read newsprint but not news headlines. She could not identify any color plates, but had only minor errors using a color cap (large D-15) test. She had a macular ring scotoma (bullseye scotoma) in the right eye, and a horseshoe-shaped area of atrophy surrounding the fovea in the fellow eye. Scotomas surrounding but sparing the fovea can lead to difficulty reading large letters, because these letters do not fit in the spared foveal region. Care must be taken in measuring visual acuity in these patients so that the testing does not stop when the patient cannot read the largest letters. The presence of scotomas in the central field may not allow the whole figure on color plate testing to be integrated and identified, leading to a possible misdiagnosis of cone dystrophy. Color cap testing avoids this problem.

  2. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1

    Science.gov (United States)

    Michaelides, M; Holder, G E; Hunt, D M; Fitzke, F W; Bird, A C; Moore, A T

    2005-01-01

    Aim: To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1. Methods: Eight members of a four generation, non-consanguineous British family were examined clinically and underwent electrophysiological testing, automated dark adapted perimetry, dark adaptometry, colour vision assessment, colour fundus photography, fundus fluorescein angiography (FFA), and fundus autofluorescence (AF) imaging. Results: The majority of affected individuals described a progressive deterioration of central vision, night vision, and peripheral visual field usually between the third and fourth decades. The visual acuity ranged from 6/6 to 3/60. Colour vision testing showed mild to moderate dyschromatopsia in the majority of individuals. Fundus changes comprised a range of macular appearances varying from mild retinal pigment epithelial (RPE) disturbance to extensive atrophy and pigmentation. In some individuals retinal vessels were attenuated and in two subjects peripheral areas of retinal atrophy were present. An absent or severely reduced PERG was detected in all subjects, indicative of marked macular dysfunction. Full field ERG showed abnormal rod and cone responses. AF imaging revealed decreased macular AF centrally surrounded by a ring of increased AF in the majority of individuals. “Bull’s eye” lesions were present in two individuals, comprising of a ring of decreased perifoveal AF bordered peripherally and centrally by increased AF. Photopic sensitivity testing demonstrated elevated central visual field thresholds with additional superior greater than inferior peripheral field loss. There were rod and cone sensitivity reductions in the central and peripheral visual fields, with the inferior retina being more affected than the superior. Conclusions: The detailed phenotype is described of the autosomal dominant cone-rod dystrophy, CORD7, which is associated with a point mutation in RIM1, a gene encoding a

  3. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7).

    Science.gov (United States)

    Hugosson, Therése; Gränse, Lotta; Ponjavic, Vesna; Andréasson, Sten

    2009-03-01

    To characterize the clinical phenotype regarding retinal function and macular appearance in patients with spinocerebellar ataxia type 7 (SCA 7), with an emphasis on electrophysiological findings. Three patients from two Swedish families were given an ophthalmological examination including visual acuity, fundus inspection, Farnsworth's color vision test, Goldmann perimetry, full-field electroretinography (full-field ERG), multifocal electroretinography (mfERG) and optical coherence tomography (OCT). DNA was analyzed with polymerase chain reaction for CAG trinucleotide expansion repeats in the SCA 7 gene. Molecular analysis demonstrated abnormally expanded CAG repeats in the gene for SCA 7, which encodes the protein ataxin-7, thus confirming the diagnosis SCA 7. In the oldest patient very discreet pigmentary changes in the maculae were found, but with that exception the patients had a normal ophthalmoscopic fundus appearance and OCT demonstrated only minor changes. MfERG indicated predominantly central involvement, especially in the early disease stages, which in pace with disease progression extended from the center to the more peripheral areas. Full-field ERG in the oldest patient demonstrated bilaterally distinctly prolonged 30-Hz flicker implicit time, verifying widespread cone photoreceptor degeneration. The patients with genetically confirmed SCA 7 presented an early macular dysfunction, preceding any signs of abnormalities in fundus appearance. According to the electrophysiological findings the primary dysfunction involves the cone photoreceptors in the foveal region, however in an older patient involvement of cone photoreceptors throughout the retina was verified. This is in accordance with the theory that ataxin-7 interacts with CRX transcription, since it is known that mutations in the CRX gene cause cone-rod dystrophy.

  4. Central nervous system involvement in progressive muscular dystrophy.

    Science.gov (United States)

    Yoshioka, M; Okuno, T; Honda, Y; Nakano, Y

    1980-01-01

    Several abnormalities in the central nervous system were shown in patients with progressive muscular dystrophy using computerised tomography (CT) scans, electroencephalograms, psychometry, and ophthalmological methods. In congenital muscular dystrophy, the most characteristic finding in the CT scan was a low density area in the white matter, seen in 14 (56%) out of 25 cases. In Duchenne dystrophy, slight cerebral atrophy was observed in 20 (67%) out of 30 cases. It was interesting that in the case of Duchenne dystrophy the older the patient, the more severe were the CT findings. In congenital muscular dystrophy half the patients with a low density area showed a spike or a spike-and-wave complex in the electroencephalogram, and optic atrophy was evident in several cases. It is concluded that progressive muscular dystrophy is not only a myogenic disorder but also one which affects the central nervous system. Images Fig. 1 Fig. 2 PMID:7436514

  5. Transplantation of retinal pigment epithelial cells - a possible future treatment for age-related macular degeneration

    DEFF Research Database (Denmark)

    Wiencke, Anne Katrine

    2001-01-01

    ophthalmology, age-related macular degeneration, transplantation, retinal pigment epithelial cells, treatment......ophthalmology, age-related macular degeneration, transplantation, retinal pigment epithelial cells, treatment...

  6. Transplantation of retinal pigment epithelial cells - a possible future treatment for age-related macular degeneration

    DEFF Research Database (Denmark)

    Wiencke, Anne Katrine

    2001-01-01

    ophthalmology, age-related macular degeneration, retinal pigment epithelial cells, transplantation, treatment......ophthalmology, age-related macular degeneration, retinal pigment epithelial cells, transplantation, treatment...

  7. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Banihani, Rudaina; Smile, Sharon; Yoon, Grace; Dupuis, Annie; Mosleh, Maureen; Snider, Andrea; McAdam, Laura

    2015-10-01

    Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have been associated with disruption of dystrophin isoforms. Retrospective cohort of 59 boys investigated the cognitive and neurobehavioral profile of boys with Duchenne muscular dystrophy. Full-scale IQ of Duchenne muscular dystrophy. © The Author(s) 2015.

  8. Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

    Directory of Open Access Journals (Sweden)

    Isabella Bernardis

    2016-01-01

    Full Text Available To assess the clinical utility of targeted Next-Generation Sequencing (NGS for the diagnosis of Inherited Retinal Dystrophies (IRDs, a total of 109 subjects were enrolled in the study, including 88 IRD affected probands and 21 healthy relatives. Clinical diagnoses included Retinitis Pigmentosa (RP, Leber Congenital Amaurosis (LCA, Stargardt Disease (STGD, Best Macular Dystrophy (BMD, Usher Syndrome (USH, and other IRDs with undefined clinical diagnosis. Participants underwent a complete ophthalmologic examination followed by genetic counseling. A custom AmpliSeq™ panel of 72 IRD-related genes was designed for the analysis and tested using Ion semiconductor Next-Generation Sequencing (NGS. Potential disease-causing mutations were identified in 59.1% of probands, comprising mutations in 16 genes. The highest diagnostic yields were achieved for BMD, LCA, USH, and STGD patients, whereas RP confirmed its high genetic heterogeneity. Causative mutations were identified in 17.6% of probands with undefined diagnosis. Revision of the initial diagnosis was performed for 9.6% of genetically diagnosed patients. This study demonstrates that NGS represents a comprehensive cost-effective approach for IRDs molecular diagnosis. The identification of the genetic alterations underlying the phenotype enabled the clinicians to achieve a more accurate diagnosis. The results emphasize the importance of molecular diagnosis coupled with clinic information to unravel the extensive phenotypic heterogeneity of these diseases.

  9. Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.

    Science.gov (United States)

    Vaclavik, Veronika; Tran, Hoai V; Gaillard, Marie-Claire; Schorderet, Daniel F; Munier, Francis L

    2012-10-01

    To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroidal neovascularization associated with pattern dystrophy in one patient. Affected family members were ascertained for phenotypic and genotypic characterization. Ophthalmic evaluations included fundus photography, autofluorescence imaging, optical coherence tomography, and International Society for Clinical Electrophysiology of Vision standard full-field electroretinography. When possible family members had genetic testing. The proband presented with choroidal neovascularization and had intravitreal injections as needed according to visual acuity and optical coherence tomography. Proband had a multifocal type pattern dystrophy, and his choroidal neovascularization regressed after four intravitreal injections. The vision improved from 0.8 to 1.0, and optical coherence tomography showed complete anatomical restoration. A butterfly-shaped pattern was observed in her cousin, whereas a fundus pulverulentus pattern was seen in a second cousin. Aunt had a multifocal atrophic appearance, simulating geographic atrophy in age-related macular degeneration. The Y141C mutation was identified in the peripherin/RDS gene and segregated with disease in the family. This is the first report of marked intrafamilial variation of pattern dystrophy because of peripherin/RDS Y141C mutation. Intravitreal ranibizumab injections might be a valuable treatment for associated subfoveal choroidal neovascularization.

  10. PABPN1 gene therapy for oculopharyngeal muscular dystrophy

    National Research Council Canada - National Science Library

    A Malerba; P Klein; H Bachtarzi; S A Jarmin; G Cordova; A Ferry; V Strings; M Polay Espinoza; K Mamchaoui; S C Blumen; J Lacau St Guily; V Mouly; M Graham; G Butler-browne; D A Suhy; C Trollet; G Dickson

    2017-01-01

      Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles...

  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. 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......-sectional study of 848 subjects aged 30-60 years from the Inter99 Eye Study. Daily intake of vitamins and minerals was estimated from a 198-item food frequency questionnaire. Digital fundus photographs were recorded in red-free illumination and graded for macular drusen >63 μm and numerous (>20) small hard...... for recruitment group, age and sex. There was a significant interaction with CFHY402H (p = 0.038). Among 504 participants with CFHY402H, the relative risk of having macular drusen >63 μm was increased in participants in the highest quartile of vitamin A intake (odds ratio = 2.58; CI95 1.16-5.73, p = 0...

  13. LONG-TERM EVOLUTION OF DOME-SHAPED MACULA: Increased Macular Bulge is Associated With Extended Macular Atrophy.

    Science.gov (United States)

    Soudier, Guillaume; Gaudric, Alain; Gualino, Vincent; Massin, Pascale; Nardin, Mathieu; Tadayoni, Ramin; Speeg-Schatz, Claude; Gaucher, David

    2016-05-01

    Dome-shaped macula (DSM) may cause impaired vision. This study analyzed the long-term evolution of DSM, most particularly macular changes: serous retinal detachment, retinal pigment epithelium atrophy, and DSM bulge increase. Twenty-nine eyes presenting with DSM were retrospectively studied. Clinical data, color photographs, fluorescein angiographs, and optical coherence tomography examinations were reviewed. Patients were followed up from 6 months to 111 months (mean, 37.89 months). The height of the macular bulge, the size of retinal pigment epithelium macular atrophy, and serous retinal detachment progression were studied. Other macular changes were noted. Mean vision remained stable. Dome-shaped macula height increased significantly from 338.9 μm to 364.3 μm (P = 0.007). Serous retinal detachment was present initially in 15 of 29 eyes; it increased in 4 cases and resolved spontaneously in 7. Macular retinal pigment epithelium atrophy correlated with the bulge height (P = 0.015), and it enlarged during follow-up (1.12 vs. 1.34, P = 0.04). Other macular anomalies were present initially or appeared during follow-up: macular pucker, choroidal neovascularization (CNV), subretinal pigmentary clumps, and flat irregular pigmented epithelium detachment. A few treatments were proven in serous retinal detachment cases but were ineffective in restoring vision. In DSM, vision may be stable for years while macular changes progress: the macular bulge increases as does retinal pigment epithelium atrophy.

  14. 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...

  15. Pain characterization in Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Talita Dias da Silva

    Full Text Available ABSTRACT Duchenne muscular dystrophy (DMD is an X-linked recessive disorder, characterized by progressive muscle weakness. Historically, pain has not been considered to be a major symptom in DMD. Objective To investigate the relationship between DMD and pain. Methods We conducted a systematic review in Medline/PubMed and BVS (virtual library in health databases. We searched for articles that showed the terms “Muscular Dystrophy, Duchenne” and “Pain” in all fields. All studies included boys diagnosed with DMD and the occurrence/amount of pain on this population. Results Initially, there were 175 studies. 167 articles were excluded for not meeting the inclusion criteria. The remaining eight eligible studies, involving pain assessment in DMD, were analyzed. Conclusion Pain is a frequent problem in this population and this symptom is potentially tractable. Studies conclude that pain can directly influence the quality of life of this population.

  16. Limb Girdle Muscular Dystrophy (LGMD): Case Report.

    Science.gov (United States)

    Kanitkar, Shubhangi A; Kalyan, Meenakshi; Gaikwad, Anu N; Makadia, Ankit; Shah, Harshad

    2015-01-01

    We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs. Neurological examination revealed atrophy of both shoulders with wasting of both deltoids thinning of thighs and pseudo hypertrophy of both calves, hypotonia in all four limbs. Gower's sign was positive. Winging of scapula was present. Power was 3/5 at both shoulders, 4/5 at both elbows, 5/5 at both wrists, 3/5 at both hip joints, 3/5 at both knees, 5/5 at both ankles. All deep tendon reflexes and superficial reflexes were present with plantars bilateral flexors. Electromyography (EMG) showed myopathic pattern. He had elevated creatinine phosphokinase levels and muscle biopsy findings consistent with muscular dystrophy.

  17. Laser Therapy in Diabetic Macular Edema

    Science.gov (United States)

    Zacharia, George; Bhat, Varsha K.; Joseph, Mary K.; Ideculla, Thara

    2008-01-01

    Objectives Diabetic macular edema results in irreversible loss of vision and is the major cause of visual morbidity in patients with Diabetes of adult onset. DCCT trial has linked this to poorer control and increased duration of DM. laser treatment in such cases is known to reduce visual impairment by 50% for a period of 5 years. The aim of this study is to evaluate the effect of laser on visual outcome in patients with clinically significant macular edema and also evaluate the effect of some factors like control of blood sugar, hypertension, nephropathy etc. Methods Retrospective analysis of 165 eyes of patients with diabetic maculopathy who underwent laser as per the ETDRS (early treatment diabetic retinopathy study) protocol was made. All these patients underwent Visual Acuity check, slit lamp examination of anterior segment, IOP check and after dilatation detailed examination of macula with 78/90 d lens and areas of retinal thickening recorded and subjected to focal laser/grid laser depending upon whether the maculopathy was focal/diffuse. Patients were assessed for control of sugar and presence of hypertension/nephropathy or any other related systemic diseases. Patients were followed up for a minimum of 6 months to a maximum of 24 months. The visual acuity at the end of 3-4 months was taken as final visual acuity after laser. Results 165 eyes of patients having CSME (clinically significant macular edema) were subjected to laser. 108 (64.54%) eyes underwent focal laser and the rest were given grid laser. 153 eyes underwent macular laser without PRP (Pan retinal photocoagulation) while rest had even PRP along with macular laser. 92 eyes (55.75%) totally, 39 eyes (59.1%) in controlled group and 26 eyes (56.5%) in the controlled group and 12 eyes (54.5%) in patients with hypertension had stable vision 3-4 months after laser. 44 eyes (26.7%) overall, 18 eyes (27.3%) in controlled group, 16 eyes (34.8%) in uncontrolled group and 7 eyes (31.8%) in hypertensive showed

  18. Laser therapy in diabetic macular edema.

    Science.gov (United States)

    Zacharia, George; Bhat, Varsha K; Joseph, Mary K; Ideculla, Thara

    2008-01-01

    Diabetic macular edema results in irreversible loss of vision and is the major cause of visual morbidity in patients with Diabetes of adult onset. DCCT trial has linked this to poorer control and increased duration of DM. laser treatment in such cases is known to reduce visual impairment by 50% for a period of 5 years. The aim of this study is to evaluate the effect of laser on visual outcome in patients with clinically significant macular edema and also evaluate the effect of some factors like control of blood sugar, hypertension, nephropathy etc. Retrospective analysis of 165 eyes of patients with diabetic maculopathy who underwent laser as per the ETDRS (early treatment diabetic retinopathy study) protocol was made. All these patients underwent Visual Acuity check, slit lamp examination of anterior segment, IOP check and after dilatation detailed examination of macula with 78/90 d lens and areas of retinal thickening recorded and subjected to focal laser/grid laser depending upon whether the maculopathy was focal/diffuse. Patients were assessed for control of sugar and presence of hypertension/nephropathy or any other related systemic diseases. Patients were followed up for a minimum of 6 months to a maximum of 24 months. The visual acuity at the end of 3-4 months was taken as final visual acuity after laser. 165 eyes of patients having CSME (clinically significant macular edema) were subjected to laser. 108 (64.54%) eyes underwent focal laser and the rest were given grid laser. 153 eyes underwent macular laser without PRP (Pan retinal photocoagulation) while rest had even PRP along with macular laser. 92 eyes (55.75%) totally, 39 eyes (59.1%) in controlled group and 26 eyes (56.5%) in the controlled group and 12 eyes (54.5%) in patients with hypertension had stable vision 3-4 months after laser. 44 eyes (26.7%) overall, 18 eyes (27.3%) in controlled group, 16 eyes (34.8%) in uncontrolled group and 7 eyes (31.8%) in hypertensive showed improvement of vision

  19. Rehabilitation therapy of Duchenne muscular dystrophy

    OpenAIRE

    ZHANG Cheng; YANG Juan

    2012-01-01

    It is very important that the rehabilitation therapy of Duchenne muscular dystrophy (DMD) can improve the quality of life and delay the disease progression. There are the guidelines for DMD rehabilitation therapy in some countries, but it is not emphasized by clinical doctors in our country. According to our experiences to DMD rehabilitation therapy, we reviewed the progress of DMD rehabilitation therapy. It includes the clinical stages and characteristics of DMD, the general principle and th...

  20. The burden of Duchenne muscular dystrophy

    OpenAIRE

    Landfeldt, Erik; Lindgren, Peter; Bell, Christopher F.; Schmitt, Claude; Guglieri, Michela; Straub, Volker; Lochmüller, Hanns; Bushby, Katharine

    2014-01-01

    Objective: The objective of this study was to estimate the total cost of illness and economic burden of Duchenne muscular dystrophy (DMD). Methods: Patients with DMD from Germany, Italy, United Kingdom, and United States were identified through Translational Research in Europe–Assessment & Treatment of Neuromuscular Diseases registries and invited to complete a questionnaire online together with a caregiver. Data on health care use, quality of life, work status, informal care, and household e...

  1. 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.

  2. 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. © 2015 American Society for Parenteral and Enteral Nutrition.

  3. 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.

  4. Gene therapy for Duchenne muscular dystrophy.

    Science.gov (United States)

    Verhaart, Ingrid E C; Aartsma-Rus, Annemieke

    2012-10-01

    Duchenne muscular dystrophy is a severe neuromuscular disorder for which there is currently no cure. Years of research have come to fruition during the past 18 months with publications on clinical trials for several gene therapy approaches for Duchenne muscular dystrophy. This review covers the present status of these approaches. The exon skipping approach is most advanced in the process of clinical application. Encouraging results have been obtained in two systemic clinical trials and further optimization has increased delivery to the heart in animal models. Limitations of the approach are the mutation-specificity and the anticipated requirement for lifelong treatment. Gene therapy by means of gene transfer holds the promise of more long-lasting effects. Results of a first, early-stage gene therapy trial, using viral vectors to deliver a minidystrophin gene, were reported. Animal studies suggest that it may be possible to overcome the main challenges currently facing gene therapy (immunogenicity of the vector and systemic body-wide delivery). Significant steps have been made in the development of gene therapy approaches for Duchenne muscular dystrophy. These approaches aim to slow down disease progression, requiring robust outcome measures to assess efficacy.

  5. Muscle MRI findings in facioscapulohumeral muscular dystrophy.

    Science.gov (United States)

    Gerevini, Simonetta; Scarlato, Marina; Maggi, Lorenzo; Cava, Mariangela; Caliendo, Giandomenico; Pasanisi, Barbara; Falini, Andrea; Previtali, Stefano Carlo; Morandi, Lucia

    2016-03-01

    Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations. Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD). In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients. In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease. Muscle MRI identifies a specific pattern of muscle involvement in FSHD patients. Muscle MRI may predict FSHD in asymptomatic and severely affected patients. Muscle MRI of upper girdle better predicts FSHD. Muscle MRI may differentiate FSHD from other forms of muscular dystrophy. Muscle MRI may show the involvement of non-clinical testable muscles.

  6. Recovery of the neurosensory retina after macular translocation surgery is independent of preoperative macular sensitivity in neovascular age-related macular degeneration.

    Science.gov (United States)

    Mettu, Priyatham S; Sarin, Neeru; Stinnett, Sandra S; Toth, Cynthia A

    2011-09-01

    To directly assess the recovery of the retina overlying choroidal neovascularization in neovascular age-related macular degeneration and to understand the relationship between macular sensitivity and visual functional measures and retinal structural alterations as predictive factors for outcome among eyes undergoing macular translocation surgery (MT360). In a prospective, consecutive case series of 55 patients with subfoveal choroidal neovascularization undergoing MT360, we explored the relationship between macular sensitivity on the Nidek microperimeter-1 with pathologic features on optical coherence tomography and with distance and near visual acuity, reading speed, contrast sensitivity, color vision, and National Eye Institute Visual Function Questionnaire-25 composite quality-of-life (QOL) score, both before and at 1 year after MT360. On average, there was improvement in all measures of visual function, macular sensitivity, and QOL after MT360. Preoperative median retinal sensitivity score did not predict postoperative measures of visual function, macular sensitivity, and vision-related QOL. Correlation between preoperative median retinal sensitivity score and preoperative measures of visual function and vision-related QOL was generally poor, excepting modest correlation for contrast sensitivity and color vision. However, correlation between postoperative median retinal sensitivity score and postoperative measures of visual function and vision-related QOL was uniformly modest, and change in median retinal sensitivity score correlated modestly with change in most measures of visual function and QOL. Among optical coherence tomography morphologic features, preoperative retinal pigment epithelium elevation predicted reduced postoperative contrast sensitivity (P = 0.04), while preoperative epiretinal membrane or vitreomacular traction predicted increased postoperative contrast sensitivity (P = 0.05). Preoperative cystoid macular edema, subretinal fluid, and

  7. Age-related Macular Degeneration: Current concepts in ...

    African Journals Online (AJOL)

    This paper reviews current concepts in the pathogenesis and management of agerelated macular degeneration as found in Pubmed journals over the past ten years with a view to recommending optimal treatment regimes for African populations. Keywords: age-related macular degeneration, pathogenesis, genetics ...

  8. 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)....

  9. Surgery for scoliosis in Duchenne muscular dystrophy.

    Science.gov (United States)

    Cheuk, Daniel K L; Wong, Virginia; Wraige, Elizabeth; Baxter, Peter; Cole, Ashley

    2013-02-28

    Scoliosis in people with Duchenne muscular dystrophy is usually progressive and treated with surgery. However, it is unclear whether the existing evidence is sufficiently scientifically rigorous to support a recommendation for spinal surgery for most people with Duchenne muscular dystrophy and scoliosis. This is an updated review and an updated search was undertaken in which no new studies were found. To determine the effectiveness and safety of spinal surgery in people with Duchenne muscular dystrophy with scoliosis. We intended to test whether spinal surgery is effective in increasing survival, improving respiratory function, improving quality of life and overall functioning; and whether spinal surgery is associated with severe adverse effects. We searched the specialized registers of the Cochrane Neuromuscular Disease Group (31 July 2012), MEDLINE (January 1966 to July 2012), EMBASE (January 1947 to July 2012), CENTRAL (2012, Issue 7 in the Cochrane Library), CINAHL Plus(January 1937 to July 2012), Proquest Dissertation and Thesis Database (January 1980 to July 2012), and the National Institute of Health Clinical Trials Database (July 2012). No language restrictions were imposed. We planned to include controlled clinical trials using random or quasi-random allocation of treatment evaluating all forms of spinal surgery for scoliosis in people with Duchenne muscular dystrophy in the review. The control interventions would have been no treatment, non-operative treatment, or a different form of spinal surgery. Two authors independently examined the search results and evaluated the study characteristics against inclusion criteria to decide which ones would be included in the review. On searching, 47 studies were relevant but none met the inclusion criteria for the review, because they were not clinical trials but prospective or retrospective reviews of case series. Since there were no randomized controlled clinical trials available to evaluate the effectiveness of

  10. Macular electroretinograms to flicker and pattern stimulation in lamellar macular holes.

    Science.gov (United States)

    Falsini, B; Minnella, A; Buzzonetti, L; Merendino, E; Porciatti, V

    1992-01-01

    Steady-state macular (9 degrees x 9 degrees) electroretinograms in response to either sinusoidal flicker (focal electroretinogram) or counterphased sinusoidal gratings (pattern electroretinogram) were recorded in 14 patients with inner lamellar macular holes, in 4 patients with full-thickness macular holes and in 14 age-matched controls. Fourier analysis of focal and pattern electroretinograms yielded three main components: a first and a second harmonic to flicker, and a second harmonic to pattern. Recent evidence indicates that the first harmonic to flicker is of receptoral origin, whereas the flicker and pattern second harmonics represent, at least in part, the activity of different generators in the inner retina. When compared to controls, patients with inner lamellar holes showed significant amplitude reduction and phase delay for both flicker and pattern second harmonics, but not for the flicker first harmonic. Patients with full-thickness holes showed significant amplitude reduction also for the flicker first harmonic. These results indicate a prevalent functional involvement of the inner retina in lamellar macular holes, which can be clinically detected by evaluating focal and pattern electroretinogram second harmonics.

  11. Duchenne and Becker muscular dystrophy prevalence in South ...

    African Journals Online (AJOL)

    1993-07-28

    Jul 28, 1993 ... A genetic service for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was initiated in. Cape Town in 1987. Of the 143 DMD patients diagnosed during the period 1987-1992, 66 had a familial pattern of inheritance and 77 were apparently sporadic. Twenw BMD patients were ...

  12. Limb girdle muscular dystrophy: reappraisal of a rejected entity

    NARCIS (Netherlands)

    van der Kooi, A. J.; de Visser, M.; Barth, P. G.

    1994-01-01

    The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower extremity weakness. Families with evidence of both autosomal recessive and autosomal dominant modes of inheritance have been described.

  13. A unifying genetic model for facioscapulohumeral muscular dystrophy.

    NARCIS (Netherlands)

    Lemmers, R.J.; Vliet, P.J.C. Van; Klooster, R.; Sacconi, S.; Camano, P.; Dauwerse, J.G.; Snider, L.; Straasheijm, K.R.; Ommen, G.J.B. van; Padberg, G.W.A.M.; Miller, D.G.; Tapscott, S.J.; Tawil, R.; Frants, R.R.; Maarel, S.M. van der

    2010-01-01

    Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35, but this contraction is pathogenic

  14. Dysphagia is present but mild in myotonic dystrophy type 2

    NARCIS (Netherlands)

    S. Knuijt; R. Ensink; J. van Vliet; A. Tieleman; Bert de Swart; Baziel van Engelen

    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

  15. 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)....

  16. Efficacy of intravitreal ranibizumab injection combined with macular grid photocoagulation for diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Hu-Lin Jiang

    2014-07-01

    Full Text Available AIM:To evaluate the clinical efficacy of intravitreal injection of ranibizumab combined with macular grid photocoagulation for diabetic macular edema(DME.METHODS:Totally 60 eyes(60 patientswith DME were randomly divided into 2 groups: 30 eyes of simple injection group underwent intravitreal injection of ranibizumab, and 30 eyes of combined treatment group underwent intravitreal injection of ranibizumab and macular grid photocoagulation 1wk later. The best corrected visual acuity(BCVA, central macular thickness(CMTmeasured by optical coherence tomography(OCTand postoperative complications were observed.RESULTS:In simple injection group, the BCVA after operation were separately 0.390±0.075(4wk, 0.367±0.088(8wkand 0.319±0.064(12wk,the CMT after operation were separately 221.63±112.34μm(4wk, 337.73±99.56μm(8wkand 432.92±100.46μm(12wk, which were much better than pre-operation. But during follow-up, the BCVA presented down trend and the CMT was on the rise slowly. In combined treatment group, the BCVA after operation were separately 0.385±0.036(4wk, 0.382±0.079(8wkand 0.377±0.097(12wk,the CMT after operation were separately 249.77±106.55μm(4wk, 270.40±92.88μm(8wkand 275.84±97.34μm(12wk, which were satisfactory and steady during follow-up, better than simple injection group(PCONCLUSION:Intravitreal injection of ranibizumab can effectively improve visual acuity and decrease central foveal thickness for patients with DME, combining with macular grid photocoagulation can ensure therapeutic effects steady and permanent.

  17. [Study of vitreoretinal dystrophies in a Mexican population].

    Science.gov (United States)

    Orozco-Gómez, Luis Porfirio; Castellanos-Pérez Bolde, Carmen Guadalupe; Moguel-Ancheita, Silvia; Lambarri-Arroyo, Andrés

    2008-01-01

    We undertook this study to demonstrate the incidence of vitreoretinal dystrophies in a Mexican population. This was a retrospective, observational, descriptive, transverse study. We analyzed the files of patients treated at the Retina Department of a medical center for state employees (ISSSTE) from January 1991 to December 2006 to obtain the incidence of vitreoretinal dystrophies. We studied 36,300 patient files. We found an incidence of 0.008% for familial exudative vitreoretinal dystrophy, 0.008% for X-linked juvenile retinoschisis, 0.005% for Wagner disease and 0.005% for Goldmann-Favre disease. We present here a representative case of each type of dystrophy. Vitreoretinal dystrophies are uncommon diseases and are difficult to diagnose. Even though their incidence is low, the poor evolution to blindness requires identification of early signs in order to offer timely and opportune treatment.

  18. Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.

    Science.gov (United States)

    Hightower, Rylie M; Alexander, Matthew S

    2018-01-01

    Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and overall reduced cost have led to the identification of genetic modifiers that are responsible for phenotypic variability in affected patients. These genetic modifiers have been postulated to explain key differences in disease phenotypes, including age of loss of ambulation, steroid responsiveness, and the presence or absence of cardiac defects in patients with the same form of muscular dystrophy. This review highlights recent findings on genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies based on animal and clinical studies. These genetic modifiers hold great promise to be developed into novel therapeutic targets for the treatment of muscular dystrophies. Muscle Nerve 57: 6-15, 2018. © 2017 Wiley Periodicals, Inc.

  19. The macular mapping test: a reliability study

    Directory of Open Access Journals (Sweden)

    Davies Leon N

    2005-08-01

    Full Text Available Abstract Background Age-related macular degeneration (ARMD is the leading cause of visual disability in people over 60 years of age in the developed world. The success of treatment deteriorates with increased latency of diagnosis. The purpose of this study was to determine the reliability of the macular mapping test (MMT, and to investigate its potential as a screening tool. Methods The study population comprised of 31 healthy eyes of 31 participants. To assess reliability, four macular mapping test (MMT measurements were taken in two sessions separated by one hour by two practitioners, with reversal of order in the second session. MMT readings were also taken from 17 age-related maculopathy (ARM, and 12 AMD affected eyes. Results For the normal cohort, average MMT scores ranged from 85.5 to 100.0 MMT points. Scores ranged from 79.0 to 99.0 for the ARM group and from 9.0 to 92.0 for the AMD group. MMT scores were reliable to within ± 7.0 points. The difference between AMD affected eyes and controls (z = 3.761, p = Conclusion The reliability data shows that a change of 14 points or more is required to indicate a clinically significant change. This value is required for use of the MMT as an outcome measure in clinical trials. Although there was no difference between MMT scores from ARM affected eyes and controls, the MMT has the advantage over the Amsler grid in that it uses a letter target, has a peripheral fixation aid, and it provides a numerical score. This score could be beneficial in office and home monitoring of AMD progression, as well as an outcome measure in clinical research.

  20. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

    DEFF Research Database (Denmark)

    Sveen, Marie-Louise; Thune, Jens Jakob; Køber, Lars

    2008-01-01

    OBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD). DESIGN: Prospective screening. SETTING: Neuromuscular Clinic and Department of Cardiology ...... of dystrophic changes on muscle biopsy. CONCLUSIONS: This study demonstrates a high prevalence of cardiac involvement in patients with LGMD2I, LGMD2E, and BMD. Patients with LGMD2A, LGMD2D, and unclassified LGMD2 have a much lower and milder prevalence of cardiac involvement.......OBJECTIVE: To investigate the extent of cardiac involvement in patients with 1 of the 12 groups of recessively inherited limb-girdle muscular dystrophy type 2 (LGMD2A-L) and Becker muscular dystrophy (BMD). DESIGN: Prospective screening. SETTING: Neuromuscular Clinic and Department of Cardiology......-I and in 14 of 30 patients (47%) with BMD. Only a few patients with LGMD2A and unclassified LGMD2 had mild cardiac involvement, whereas 29% and 67% of patients with LGMD2I and LGMD2E, respectively, had cardiac involvement. Cardiac involvement was not correlated with age, muscle strength, or the level...

  1. Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I.

    NARCIS (Netherlands)

    Kalkman, J.S.; Schillings, M.L.; Zwarts, M.J.; Engelen, B.G.M. van; Bleijenberg, G.

    2007-01-01

    OBJECTIVES: To study the presence of psychiatric comorbidity assessed by the use of a structured clinical interview and self-reported questionnaires in a large sample of patients with adult-onset myotonic dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and hereditary motor and sensory

  2. 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

  3. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study

    NARCIS (Netherlands)

    Hoogerwaard, E. M.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; Leschot, N. J.; van Essen, A. J.; Brunner, H. G.; van der Wouw, P. A.; Wilde, A. A.; 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

  4. [Early onset of fingolimod-associated macular edema].

    Science.gov (United States)

    Schelenz, D; Kleiter, I; Schöllhammer, J; Rehrmann, J; Elling, M; Dick, H B; Kakkassery, V

    2017-06-26

    Fingolimod, a disease-modifying sphingosine 1‑phosphate receptor modulator, which was approved in Germany in 2011, decreases the relapse rate and reduces neuroinflammation in patients with relapsing-remitting multiple sclerosis. Macular edema is a well-known ocular side effect of fingolimod therapy. Specific intervals for ophthalmologic check-ups after starting fingolimod and definite treatment schedules for fingolimod-associated macular edema are, however, still lacking. We present a case of early fingolimod-associated macular edema in a 45-year-old female patient with relapsing-remitting multiple sclerosis. The patient complained about visual impairment 1 month after the start of fingolimod and visited an eye specialist. Funduscopic examination and imaging diagnostics revealed macular edema in both eyes. The treatment with fingolimod was immediately stopped. For therapy of macular edema topical application of nepafenac and oral acetazolamide were given. During the 6 months of treatment the macular edema completely disappeared and visual function recovered completely. At the time of diagnosis, it is fundamentally important to discuss the continuation of fingolimod administration with the attending neurologist and if necessary to discontinue the drug. Regular ophthalmologic check-ups at 4‑week intervals over a period of 3 months are meaningful after beginning fingolimod treatment. As before, it is still a key aspect to determine predictive opthalmologic and neurological factors before beginning treatment to evaluate which patients are at risk of fingolimod-associated macular edema.

  5. Acute Macular Neuroretinopathy Associated With Chikungunya Fever.

    Science.gov (United States)

    Pang, Claudine E; Navajas, Eduardo V; Warner, Simon J; Heisler, Morgan; Sarunic, Marinko V

    2016-06-01

    A 47-year-old man with recent travel to the Caribbean was admitted with acute febrileillness associated with arthralgia and skin rash followed by sudden onset of bilateral visual field defects. Funduscopy revealed subtle bilateral paracentral dark lesions nasal to the fovea best seen on near infrared imaging as hyporeflective, wedge-shaped, paracentral macular lesions. Spectral-domain optical coherence tomography (SD-OCT) through the lesions revealed hyperreflective bands at the level of the outer plexiform layer and outer nuclear layer (ONL), with concomitant attenuation of the underlying external limiting membrane (ELM), ellipsoid zone (EZ), and interdigitation zone (IZ). Neither fluorescein angiography nor speckle variance OCT angiography (sv-OCTA) showed any defects in retinal circulation. Work up revealed positive Immunoglobulin M for Chikungunya virus (CHIKV). Six months later, the patient had persistent scotomas, although reduced in size. SD-OCT showed subtle ONL thinning and restoration of the ELM, although EZ and IZ remained disrupted. Chikungunya fever may manifest as bilateral acute macular neuroretinopathy (AMN). Clinicians should be aware of possible systemic associations of AMN. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:596-599.]. Copyright 2016, SLACK Incorporated.

  6. Reflex sympathetic dystrophy and cigarette smoking.

    Science.gov (United States)

    An, H S; Hawthorne, K B; Jackson, W T

    1988-05-01

    Although the cause of reflex sympathetic dystrophy (RSD) remains unknown, hyperactivity of the sympathetic nerves and secondary vasospasm may be pathogenic in this syndrome. A retrospective epidemiologic study of RSD was done on 53 in-patients from 1978-1985. Cigarette smoking was strikingly increased in patient frequency in RSD (68% versus 37% of hospitalized controls, p less than 0.0001). Eighty-seven percent of the patients had a history of trauma or surgery, and 38% had other associated diseases. Cigarette smoking is statistically linked to RSD and may be involved in its pathogenesis by enhancing sympathetic activity, vasoconstriction, or by some other unknown mechanism.

  7. 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.

  8. [Facioscapulohumeral muscle dystrophy and heart disease].

    Science.gov (United States)

    Emmrich, P; Ogunlade, V; Gradistanac, T; Daneschnejad, S; Koch, M C; Schober, R

    2005-05-01

    Cardiac involvement is well known in a number of skeletomuscular diseases but not in facio-scapulohumeral muscular dystrophy (FSHD). We report on a 71 year old woman with progressive cardiac insufficiency in FSHD, which was also confirmed by molecular analysis in one of the two daughters affected by the disease. Autopsy of the deceased patient showed the typical changes in skeletal muscles including focal inflammatory infiltrates in the diaphragm and, in addition, cardiac muscular involvement. The histological changes resembled those seen in primary cardiomyopathy despite the normal muscle mass volume. Both clinically and morphologically, the cardiac disease was the cause of death in this patient with FSHD.

  9. Rehabilitation therapy of Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    ZHANG Cheng

    2012-06-01

    Full Text Available It is very important that the rehabilitation therapy of Duchenne muscular dystrophy (DMD can improve the quality of life and delay the disease progression. There are the guidelines for DMD rehabilitation therapy in some countries, but it is not emphasized by clinical doctors in our country. According to our experiences to DMD rehabilitation therapy, we reviewed the progress of DMD rehabilitation therapy. It includes the clinical stages and characteristics of DMD, the general principle and the common therapy methods of DMD rehabilitation. We hope this review may increase recognizing to DMD rehabilitation therapy for the clinical doctors and DMD family members.

  10. Bilateral circumferential macular folds in inflicted childhood neurotrauma.

    Science.gov (United States)

    Airiani, Suzanna; Fine, Howard F; Walrath, Joseph D; Chiang, Michael F; Flynn, John T

    2010-01-01

    To report an infant with inflicted neurotrauma who exhibited bilateral circumferential macular folds. Bedside ophthalmic examination and fundus photography using RetCam-II (Clarity Medical Systems, Pleasanton, CA). Both pupils were miotic and nonreactive. External and anterior segments showed no abnormality. The fundus showed bilateral diffuse multilaminar retinal, subhyaloid, and vitreous hemorrhages. Distinctive macular folds were noted bilaterally. Circumferential macular folds are most commonly found in abused infants, although it has been suggested that they may be associated with Terson syndrome and severe crush injury.

  11. 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)

  12. Myotonic dystrophy mimicking postpolio syndrome in a polio survivor.

    Science.gov (United States)

    Lim, Jae-Young; Kim, Kyoung-Eun; Choe, Gheeyoung

    2009-02-01

    We describe a 38-yr-old polio survivor with newly developed weakness from myotonic dystrophy. He suffered muscle atrophy and weakness in his legs as a result of poliomyelitis at the age of 3 yrs. After a stable interval of about 30 yrs, he felt new weakness and fatigue in his legs. Electromyography revealed generalized myotonic discharges, early recruitment, and findings of chronic denervation in his left leg. Genetic testing was consistent with myotonic dystrophy type 1. A biopsy from the right gastrocnemius revealed findings of both myotonic dystrophy and chronic denervation. This case report shows the importance of considering other uncommon conditions in the differential diagnoses of postpolio syndrome.

  13. MR imaging of fukuyama congenital muscular dystrophy; a case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk [Ewha Womans Univ. College of Medicine, Seoul (Korea, Republic of)

    2000-11-01

    Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.

  14. Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

    Science.gov (United States)

    Wein, Nicolas; Alfano, Lindsay; Flanigan, Kevin M

    2015-06-01

    Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe Duchenne muscular dystrophy typically presents around ages 2 to 5 with gait disturbance, and historically has led to the loss of ambulation by age 12. It is important for the practicing pediatrician, however, to be aware of other presenting signs, such as delayed motor or cognitive milestones, or elevated serum transaminases. Becker muscular dystrophy is milder, often presenting after age 5, with ambulation frequently preserved past 20 years and sometimes into late decades. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Diagnosis and etiology of congenital muscular dystrophy.

    Science.gov (United States)

    Peat, R A; Smith, J M; Compton, A G; Baker, N L; Pace, R A; Burkin, D J; Kaufman, S J; Lamandé, S R; North, K N

    2008-07-29

    We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort. We screened 101 patients with CMD with a combination of immunofluorescence, Western blotting, and DNA sequencing to identify disease-associated abnormalities in glycosylated alpha-dystroglycan, collagen VI, laminin alpha2, alpha7-integrin, and selenoprotein. A total of 45% of the CMD cohort were assigned to an immunofluorescent subgroup based on their abnormal staining pattern. Abnormal staining for glycosylated alpha-dystroglycan was present in 25% of patients, and approximately half of these had reduced glycosylated alpha-dystroglycan by Western blot. Sequencing of the FKRP, fukutin, POMGnT1, and POMT1 genes in all patients with abnormal alpha-dystroglycan immunofluorescence identified mutations in one patient for each of these genes and two patients had mutations in POMT2. Twelve percent of patients had abnormalities in collagen VI immunofluorescence, and we identified disease-causing COL6 mutations in eight of nine patients in whom the genes were sequenced. Laminin alpha2 deficiency accounted for only 8% of CMD. alpha7-Integrin staining was absent in 12 of 45 patients studied, and ITGA7 gene mutations were excluded in all of these patients. We define the distribution of different forms of congenital muscular dystrophy in a large cohort of mixed ethnicity and demonstrate the utility and limitations of current diagnostic techniques.

  16. Muscle MRI findings in facioscapulohumeral muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Gerevini, Simonetta; Caliendo, Giandomenico; Falini, Andrea [IRCCS San Raffaele Scientific Institute, Neuroradiology Unit, Head and Neck Department, Milan (Italy); Scarlato, Marina; Previtali, Stefano Carlo [IRCCS San Raffaele Scientific Institute, Department of Neurology, INSPE and Division of Neuroscience, Milan (Italy); Maggi, Lorenzo; Pasanisi, Barbara; Morandi, Lucia [Fondazione IRCCS Istituto Neurologico ' ' Carlo Besta' ' , Neuromuscular Diseases and Neuroimmunology Unit, Milan (Italy); Cava, Mariangela [IRCCS San Raffaele Scientific Institute, Department of Radiology and Center for Experimental Imaging, Milan (Italy)

    2016-03-15

    Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations. Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD). In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients. In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease. (orig.)

  17. Congenital muscular dystrophy with inflammation: Diagnostic considerations

    Directory of Open Access Journals (Sweden)

    Kaumudi Konkay

    2016-01-01

    Full Text Available Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α 2 deficiency on immunohistochemistry (IHC. Material and Methods: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E, enzyme and immunohistochemistry (IHC with laminin α 2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α 2 deficiency. Results: There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α 2 was available in nine patients, of which six showed complete absence along sarcolemma (five presented with floppy infant syndrome and one with delayed motor milestones and three showed discontinuous, and less intense staining. Conclusions: CMD show variable degrees of inflammation on muscle biopsy. A diagnosis of laminin α 2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones.

  18. Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

    Science.gov (United States)

    Tasca, Giorgio; Monforte, Mauro; Iannaccone, Elisabetta; Laschena, Francesco; Ottaviani, Pierfrancesco; Leoncini, Emanuele; Boccia, Stefania; Galluzzi, Giuliana; Pelliccioni, Marco; Masciullo, Marcella; Frusciante, Roberto; Mercuri, Eugenio; Ricci, Enzo

    2014-01-01

    Background In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment. Methods We propose an MRI protocol evaluating neck and upper girdle muscles. One hundred-eight consecutive symptomatic FSHD patients and 45 patients affected by muscular dystrophies and myopathies with prominent upper girdle involvement underwent this protocol. Acquired scans were retrospectively analyzed. Results The trapezius (100% of the patients) and serratus anterior (85% of the patients) were the most and earliest affected muscles in FSHD, followed by the latissimus dorsi and pectoralis major, whilst spinati and subscapularis (involved in less than 4% of the patients) were consistently spared even in late disease stages. Asymmetry and hyperintensities on short-tau inversion recovery (STIR) sequences were common features, and STIR hyperintensities could also be found in muscles not showing signs of fatty replacement. The overall involvement appears to be disease-specific in FSHD as it significantly differed from that encountered in the other myopathies. Conclusions The detailed knowledge of single muscle involvement provides useful information for correctly evaluating patients' motor function and to set a baseline for natural history studies. Upper girdle imaging can also be used as an additional tool helpful in supporting the diagnosis of FSHD in unclear situations, and may contribute with hints on the currently largely unknown molecular pathogenesis of this disease. PMID:24932477

  19. Lower limb surgery in Duchenne muscular dystrophy.

    Science.gov (United States)

    Forst, J; Forst, R

    1999-05-01

    Two hundred and thirteen of 428 patients with Duchenne muscular dystrophy (DMD) of a prospective and open study were operated on bilaterally with hip and knee release, aponeurectomy of the iliotibial band and Achilles tendon lengthening. In 87 patients the operation was carried out during early restrictions of the lower limb joint mobility at an average age of 6.56 years (4.02-8.26, SD 1.42). The follow-up was on average 5.4 years (0.25-9.01, SD 2.7). This group was compared to a control group (natural history) consisting of 100 non-operated DMD patients. A significant (P contrast to the patients of the control group all treated patients between ages 6 and 8 years could walk independently. The positive influence of early lower limb surgery could also be shown by the development of Hammersmith motor ability score, CIDD (Council of Investigation of Duchenne Dystrophy) grading and Vignos scale. Nevertheless, in consideration of the well-known course of DMD not only the prolongation of ambulation but also the achieved prolongation of assisted standing ability with no or mild contractures are aims of lower limb surgery. Since no improvement of muscle strength could be observed after lower limb surgery, further studies have to investigate if additionally administered steroids can prolong ambulation after early lower limb surgery.

  20. Emerging drugs for Duchenne muscular dystrophy.

    Science.gov (United States)

    Malik, Vinod; Rodino-Klapac, Louise R; Mendell, Jerry R

    2012-06-01

    Duchenne muscular dystrophy (DMD) is the most common, severe childhood form of muscular dystrophy. Treatment is limited to glucocorticoids that have the benefit of prolonging ambulation by approximately 2 years and preventing scoliosis. Finding a more satisfactory treatment should focus on maintaining long-term efficacy with a minimal side effect profile. Authors discuss different therapeutic strategies that have been used in pre-clinical and clinical settings. Multiple treatment approaches have emerged. Most attractive are molecular-based therapies that can express the missing dystrophin protein (exon skipping or mutation suppression) or a surrogate gene product (utrophin). Other approaches include increasing the strength of muscles (myostatin inhibitors), reducing muscle fibrosis and decreasing oxidative stress. Additional targets include inhibiting NF-κB to reduce inflammation or promoting skeletal muscle blood flow and muscle contractility using phosphodiesterase inhibitors or nitric oxide (NO) donors. The potential for each of these treatment strategies to enter clinical trials is a central theme of discussion. The review emphasizes that the goal of treatment should be to find a product at least as good as glucocorticoids with a lower side effect profile or with a significant glucocorticoid sparing effect.

  1. The superhealing MRL background improves muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Heydemann Ahlke

    2012-12-01

    Full Text Available 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 dystrophy. With disruption of the dystrophin complex, the muscle plasma membrane becomes leaky and muscles develop increased fibrosis. Methods MRL/MpJ mice were bred with Sgcg mice, and cardiac function was measured. Muscles were assessed for fibrosis and membrane leak using measurements of hydroxyproline and Evans blue dye. Quantitative trait locus mapping was conducted using single nucleotide polymorphisms distinct between the two parental strains. Results Introduction of the MRL genome reduced fibrosis but did not alter membrane leak in skeletal muscle of the Sgcg model. The MRL genome was also associated with improved cardiac function with reversal of depressed fractional shortening and the left ventricular ejection fraction. We conducted a genome-wide analysis of genetic modifiers and found that a region on chromosome 2 was associated with cardiac, diaphragm muscle and abdominal muscle fibrosis. Conclusions These data are consistent with a model where the MRL genome acts in a dominant manner to suppress fibrosis in this chronic disease setting of heart and muscle disease.

  2. Ultrastructural findings in progressive macular hypomelanosis indicate decreased melanin production

    NARCIS (Netherlands)

    Relyveld, G. N.; Dingemans, K. P.; Menke, H. E.; Bos, J. D.; Westerhof, W.

    2008-01-01

    BACKGROUND: The pathogenesis of progressive macular hypomelanosis (PMH) is unknown. Recently, Westerhof et al. (Arch Dermatol 2004; 140: 210-214) hypothesized that Propionibacterium acnes produces a depigmenting factor that interferes with melanogenesis in the skin, resulting in hypopigmented spots.

  3. Relevant aspects of golden retriever muscular dystrophy for the study of Duchenne muscular dystrophy in humans

    Directory of Open Access Journals (Sweden)

    Julieta Rodini Engrácia de Moraes

    2017-09-01

    Full Text Available ABSTRACT: Golden Retriever muscular dystrophy (GRMD is the most representative model for studying Duchenne muscular dystrophy (DMD in humans, owing its phenotypic expression. DMD is a recessive disorder linked to the X chromosome in which the loss of dystrophin induces progressive weakness and degeneration of the skeletal and cardiac muscles, which lead to replacement by connective and adipose tissues. Onset of clinical signs occurs between 2 and 5 years of age, and many patients die from heart or respiratory failure. The main studies concerning dystrophic Golden Retrievers (DGR sought to elucidate the pathophysiology of the disease and its clinical implications to develop therapies and alternative treatments to improve the quality of life and increase longevity of DMD patients. This review presents an overview of relevant contributions of the DGR model for elucidating DMD in humans.

  4. [Depression in Patients with Age-Related Macular Degeneration].

    Science.gov (United States)

    Narváez, Yamile Reveiz; Gómez-Restrepo, Carlos

    2012-09-01

    Age-related macular degeneration is a cause for disability in the elderly since it greatly affects their quality of life and increases depression likelihood. This article discusses the negative effect depression has on patients with age-related macular degeneration and summarizes the interventions available for decreasing their depression index. Copyright © 2012 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  5. Accidental macular burns caused by artillery laser rangefinder

    Science.gov (United States)

    Smiljanic, Nikola; Djurovic, Branislav M.

    1997-05-01

    Authors present two cases of macular burn caused by artillery laser rangefinder. Both injuries resulted form improper use of laser device. One of them occurred during combat activities. Safety goggles were not used. Macular burns resulted in permanent loss of central vision and visual acuity reduced to less than 0.1. Authors present results of clinical and functional tests made during long follow up period and comment similar published cases and ways of protection.

  6. Pathology of Macular Foveoschisis Associated with Degenerative Myopia

    Directory of Open Access Journals (Sweden)

    Johnny Tang

    2010-01-01

    Full Text Available This is a clinicopathological paper on the histologic findings in myopia-associated macular foveoschisis. The findings on ophthalmic pathological study of a 73-year-old woman with high myopia are reviewed. Multiple retinoschisis cavities involving both the macula and retinal periphery were disclosed. Our paper offers tissue evidence and supports recent ocular coherence tomography reports of eyes with high myopia and associated macular foveoschisis.

  7. Visual function of the idiopathic macular hole

    Directory of Open Access Journals (Sweden)

    Jian-Tao Ren

    2015-02-01

    Full Text Available The idiopathic macular hole(IMHis research priority associated with the regenerate quickly of vitrectomy. The unaided visual acuity and the best corrected visual acuity is partial for the visual acuity of the patient with IMH.The mechanism and clinical significance of modern visual function measurements associated with IMH, including contrast sensitivity, visual field, multifocal electroretinogram, and stereoscopic vision, have been introduced. These measurements could be of great value in early diagnosis of IMH, assessment of surgical indication and evaluation of visual performance after vitrectomy. They would also be helpful to the analysis of postoperative impaired visual function and its management. Having an adequate understanding of the contents and significance of visual function is helpful to the improvement of IMH surgery techniques and postoperative visual acuity.

  8. 'Toy' laser macular burns in children.

    Science.gov (United States)

    Raoof, N; Chan, T K J; Rogers, N K; Abdullah, W; Haq, I; Kelly, S P; Quhill, F M

    2014-02-01

    Laser 'toys' can be purchased online and imported with relative ease; the variety of such devices is a potential public safety concern. We describe five children with maculopathy following exposure to laser 'toys'. Case series of maculopathy following exposure to laser 'toys'. Five children were seen in our Ophthalmic Unit with macular injuries following exposure to laser 'toys'. Clinically, three children had an acute vitelliform-like maculopathy which resolved to leave sub-foveal retinal pigment epithelium changes with reduced vision. One case was complicated by a choroidal neovascular membrane. Laser 'toys', which resemble laser pointers, are increasingly available over the internet. Such 'toys' may not meet safety standards. Retinal injury in childhood following exposure to laser 'toys' is a public safety concern.

  9. Prevention of Age-Related Macular Degeneration.

    Science.gov (United States)

    Singh, Niharika; Srinivasan, Sangeetha; Muralidharan, Vinata; Roy, Rupak; V, Jayprakash; Raman, Rajiv

    2017-01-01

    Age-related macular degeneration (AMD) compromises quality of life. However, the available therapeutic options are limited. This has led to the identification of modifiable risk factors to prevent the development or alter the natural course and prognosis of AMD. The identification and modification of risk factors has the potential for greater public health impact on reducing morbidity from AMD. Likewise, identifying the imaging clues and genetic clues could serve as a guide to recognizing the propensity for progression to severe and end stages of the disease. Several attempts, both successful and unsuccessful, have been made for interventions that could delay the progression of AMD. Of these, pharmacological interventions have shown promising results. The Age-Related Eye Disease Study 1 and 2 have shown the beneficial role of antioxidants in a selected group of patients. Copyright 2017 Asia-Pacific Academy of Ophthalmology.

  10. Mothers' psychological adaptation to Duchenne/Becker muscular dystrophy

    National Research Council Canada - National Science Library

    Peay, Holly L; Meiser, Bettina; Kinnett, Kathleen; Furlong, Pat; Porter, Kathryn; Tibben, Aad

    2016-01-01

    Duchenne and Becker muscular dystrophy (DBMD) cause significant emotional and care-related burden on caregivers, but no studies have evaluated predictors of positive caregiver outcomes, including disorder-specific psychological adaptation...

  11. Nonmuscular involvement in merosin-negative congenital muscular dystrophy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Donkelaar, H.J. ten; Tanke, R.B.; Vingerhoets, D.M.; Zwarts, M.J.; Verrips, A.; Gabreëls, F.J.M.

    2002-01-01

    The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal

  12. Immunoglobulins in granular corneal dystrophy Groenouw type I

    DEFF Research Database (Denmark)

    Møller, H U; Bojsen-Møller, M; Schrøder, H D

    1993-01-01

    Three patients with granular corneal dystrophy Groenouw type I underwent corneal grafting, and cryostat sections of the corneal buttons were examined immunohistochemically for immunoglobulins. Positive results were obtained for IgG, Kappa-, and Lambda chains with immunofluorescence technique. The...

  13. Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy

    DEFF Research Database (Denmark)

    Witting, N; Mensah, A; Køber, L

    2014-01-01

    OBJECTIVES: To assess skeletal muscle weakness and progression as well as the cardiopulmonary involvement in oculopharyngeal muscular dystrophy (OPMD). MATERIALS AND METHODS: Cross-sectional study including symptomatic patients with genetically confirmed OPMD. Patients were assessed by medical...

  14. Strong association between myotonic dystrophy type 2 and autoimmune diseases.

    NARCIS (Netherlands)

    Tieleman, A.A.; Broeder, A. den; Logt, A. van de; Engelen, B.G.M. van

    2009-01-01

    BACKGROUND: Myotonic dystrophy type 2 (DM2) is a dominantly inherited multisystem disorder, characterised by progressive proximal weakness, myotonia, cataracts and cardiac conduction abnormalities. Our clinical impression of an association between DM2 and autoimmune diseases or autoantibody

  15. Strength training and albuterol in facioscapulohumeral muscular dystrophy

    NARCIS (Netherlands)

    van der Kooi, EL; Vogels, OJM; van Asseldonk, RJGP; Lindeman, E; Hendriks, JCM; Wohlgemuth, M; van der Maarel, SM; Padberg, GW

    2004-01-01

    Background: In animals and healthy volunteers beta2-adrenergic agonists increase muscle strength and mass, in particular when combined with strength training. In patients with facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects. The authors evaluated the effect of

  16. Strength training and albuterol in facioscapulohumeral muscular dystrophy.

    NARCIS (Netherlands)

    Kooi, E.L. van der; Vogels, O.J.M.; Asseldonk, R.J. van; Lindeman, E.J.M.; Hendriks, J.C.M.; Wohlgemuth, M.; Maarel, S.M. van der; Padberg, G.W.A.M.

    2004-01-01

    BACKGROUND: In animals and healthy volunteers beta2-adrenergic agonists increase muscle strength and mass, in particular when combined with strength training. In patients with facioscapulohumeral muscular dystrophy (FSHD) albuterol may exert anabolic effects. The authors evaluated the effect of

  17. Predictive factors for masticatory performance in Duchenne muscular dystrophy

    NARCIS (Netherlands)

    Bruggen, H.W. van; Engel-Hoek, L. van den; Steenks, M.H.; Bronkhorst, E.M.; Creugers, N.H.; Groot, I.J.M. de; Kalaykova, S.

    2014-01-01

    Patients with Duchenne muscular dystrophy (DMD) report masticatory and swallowing problems. Such problems may cause complications such as choking, and feeling of food sticking in the throat. We investigated whether masticatory performance in DMD is objectively impaired, and explored predictive

  18. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Hoogerwaard, Edo M.; Ginjaar, Ieke B.; Bakker, Egbert; de Visser, Marianne

    2005-01-01

    Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in

  19. How Physicians Support Mothers of Children with Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Fujino, Haruo; Saito, Toshio; Matsumura, Tsuyoshi; Shibata, Saki; Iwata, Yuko; Fujimura, Harutoshi; Shinno, Susumu; Imura, Osamu

    2015-09-01

    Communicating about Duchenne muscular dystrophy and its prognosis can be difficult for affected children and their family. We focused on how physicians provide support to the mothers of children with Duchenne muscular dystrophy who have difficulty communicating about the condition with their child. The eligible participants were certified child neurologists of the Japanese Society of Child Neurology. Participants responded to questionnaires consisting of free descriptions of a vignette of a child with Duchenne muscular dystrophy and a mother. We analyzed 263 responses of the participants. We found 4 themes on advising mothers, involving encouraging communication, family autonomy, supporting family, and considering the child's concerns. These results provide a better understanding of the communication between physicians and family members who need help sharing information with a child with Duchenne muscular dystrophy. These findings will assist clinical practitioners in supporting families and the affected children throughout the course of their illness. © The Author(s) 2015.

  20. [Cystic dystrophy on aberrant pancreas. Contribution of ultrasound-endoscopy].

    Science.gov (United States)

    Andrieu, J; Palazzo, L; Chikli, F; Doll, J; Chome, J

    1989-06-01

    Cystic dystrophy of aberrant pancreatic tissue without chronic pancreatitis is a rare disease described by Potet and Duclert in 1970. Clinical diagnosis is possible by endoscopy and intraluminalsonography; we report the first case diagnosed by intraluminalsonography.

  1. Photocoagulation treatment for clinically significant radiation macular oedema

    Energy Technology Data Exchange (ETDEWEB)

    Kinyoun, J.L.; Zamber, R.W.; Lawrence, B.S.; Barlow, W.E.; Arnold, A.M. [Washington Univ., Seattle, WA (United States)

    1995-02-01

    Macular oedema is a leading cause of vision loss in patients with radiation retinopathy. In an effort to find an effective treatment for this vision threatening complication, 12 eyes (eight patients) were treated with photocoagulation for clinically significant radiation macular oedema (CSRMO) defined as central macular thickening, exudates threatening the macular centre, or one disc area of thickening in the macula. Median visual acuity improved from 20/100 pre-operatively to 20/90 at the initial post-operative examination (mean follow up 5 months) and to 20/75 at the final post-operative examination (mean follow up 39 months). At the final post-operative examination, visual acuity had improved in eight (67%) eyes and six (50%) eyes had complete resolution of the CSRMO; two (17%) other eyes had improved anatomically in that fewer CSRMO criteria were present. These results suggest that macular photocoagulation is effective in decreasing macular oedema and improving vision in eyes with CSRMO. (author).

  2. [Macular Edema in Uveitis - Steroids or VEGF Inhibitors?

    Science.gov (United States)

    Heinz, Carsten; Heiligenhaus, Arnd

    2017-06-09

    Macular edema in uveitis patients is certainly the most frequent complication leading to a permanent and irreversible reduction in vision during the course of the disease. Thanks to optical coherence tomography (OCT) technology and fluorescein angiography (FAG), significantly more macular edemas are detected. Macular edema can be found in various uveitis varieties and can show different clinical patterns. All macular edema should be treated. Macular edema with active inflammation usually reacts very well to general uveitis treatment. In the case of eyes without visible inflammation, however, the response to such therapy is usually less effective. According to the latest treatment recommendations, dexamethasone implants should be used as the first intravitreal therapy. Vascular endothelial growth factor inhibitors (VEGF inhibitors) are second-line treatment regimens. The choice of therapy is, therefore, primarily based on the degree of inflammation and the individual complications, such as glaucoma, lens situation or previous increase in IOP after steroid administration. These individual complications may allow using VEGF inhibitors as first line treatment. An improvement in the macular edema can be achieved with both groups of active substances. Georg Thieme Verlag KG Stuttgart · New York.

  3. Macular micropseudocysts in early stages of diabetic retinopathy.

    Science.gov (United States)

    Tremolada, Gemma; Pierro, Luisa; de Benedetto, Umberto; Margari, Sergio; Gagliardi, Marco; Maestranzi, Gisella; Calori, Giliola; Lorenzi, Mara; Lattanzio, Rosangela

    2011-01-01

    To identify by noninvasive means early retinal abnormalities that may predict diabetic macular edema. The authors analyzed retrospectively data from consecutive patients with Type 1 (n = 16) or Type 2 (n = 23) diabetes who presented for routine follow-up of early retinopathy, had no clinical signs or symptoms of diabetic macular edema, and were evaluated with spectral-domain optical coherence tomography. Age- and gender-matched nondiabetic subjects provided normative data. Spectral-domain optical coherence tomography revealed in the macular region of diabetic patients small hyporeflective areas (median diameter, 55 μm) contained within discrete retinal layers that we named micropseudocysts (MPCs). Micropseudocysts are associated with vascular leakage. The patients showing MPCs had more frequently systemic hypertension and increased central foveal thickness than those without MPCs. The association with increased central foveal thickness was only in the patients with Type 2 diabetes. Macular MPCs in patients with mild diabetic retinopathy appear to reflect leakage and can precede macular thickening. The association of MPCs with increased central foveal thickness in patients with Type 2 diabetes, but not in patients with Type 1 diabetes, points to a greater tendency to retinal fluid accumulation in patients with Type 2 diabetes. Studies in larger cohorts will determine the usefulness of MPCs in strategies to abort diabetic macular edema.

  4. Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration.

    Science.gov (United States)

    den Hollander, Anneke I

    2016-03-01

    The genomic revolution has had a huge impact on our understanding of the genetic defects and disease mechanisms underlying ophthalmic diseases. Two examples are discussed here. The first is Leber congenital amaurosis (LCA), a severe inherited retinal dystrophy leading to severe vision loss in children, and the second is age-related macular degeneration (AMD), the most common cause of vision loss in the elderly. Twenty years ago, the genetic causes of these diseases were unknown. Currently, more than 20 LCA genes have been identified, and genetic testing can now successfully identify the genetic defects in at least 75% of all LCA cases. Gene-specific treatments have entered the clinical trial phase for three LCA genes, and for seven LCA genes gene-specific therapies have been tested in model systems. Age-related macular degeneration is a multifactorial disease caused by a combination of genetic and environmental factors. Currently, more than 40 loci have been identified for AMD, accounting for 15%-65% of the total genetic contribution to AMD. Despite the progress that has been made so far, genetic testing is not yet recommended for AMD, but this may change if we move to clinical trials or treatments that are dependent on an individual's genotype. The identification of serum or plasma biomarkers using other "-omics" technologies may further improve predictive tests and our understanding of the disease mechanisms of AMD. Ultimately, it is anticipated that predictive tests will help to stratify patients for the most suitable therapy, which will enable the development of precision medicine, tailored to individual needs.

  5. Xp21 muscular dystrophy due to X chromosome inversion.

    Science.gov (United States)

    Baxter, P S; Maltby, E L; Quarrell, O

    1997-07-01

    Two brothers with Duchenne muscular dystrophy have an inversion of the X chromosome, 46, Y, inv(X) (p11.2p21.2). Because their mother is an unaffected carrier of the inversion, this confirms that maternal passage of a structurally abnormal X chromosome can cause dystrophinopathy in males. Our experience suggests that as well as molecular genetic analysis, karyotyping can be useful in Xp21 muscular dystrophy.

  6. The new frontier in muscular dystrophy research: booster genes

    DEFF Research Database (Denmark)

    Engvall, Eva; Wewer, Ulla M

    2003-01-01

    More than 30 different forms of muscular dystrophy (MD) have been molecularly characterized and can be diagnosed, but progress toward treatment has been slow. Gene replacement therapy has met with great difficulty because of the large size of the defective genes and because of difficulties...... of the boosters are better understood, drugs may be developed to provide the boost to muscle. Some of the experiences in models of muscular dystrophy may inspire new approaches in other genetic degenerative diseases as well....

  7. Identification of three distinguishable phenotypes in golden retriever muscular dystrophy

    OpenAIRE

    AMBROSIO, C. E.; FADEL, L.; GAIAD, T. P.; MARTINS, D. S.; ARAUJO, K. P. C.; ZUCCONI, E.; BROLIO, M. P.; GIGLIO, R. F.; MORINI, A. C.; JAZEDJE, T.; FROES, T. R.; FEITOSA, M. L. T.; VALADARES, M. C.; BELTRAO-BRAGA, P. C. B.; MEIRELLES, F. V.

    2009-01-01

    Duchenne muscular dystrophy (DMD) is a human disease characterized by progressive and irreversible skeletal muscle degeneration caused by mutations in genes coding for important muscle proteins. Unfortunately, there is no efficient treatment for this disease; it causes progressive loss of motor and muscular ability until death. The canine model (golden retriever muscular dystrophy) is similar to DMD, showing similar clinical signs. Fifteen dogs were followed from birth and closely observed fo...

  8. Pulmonary Endpoints in Duchenne Muscular Dystrophy. A Workshop Summary.

    Science.gov (United States)

    Finder, Jonathan; Mayer, Oscar Henry; Sheehan, Daniel; Sawnani, Hemant; Abresch, R Ted; Benditt, Joshua; Birnkrant, David J; Duong, Tina; Henricson, Erik; Kinnett, Kathi; McDonald, Craig M; Connolly, Anne M

    2017-08-15

    Development of novel therapeutics for treatment of Duchenne muscular dystrophy (DMD) has led to clinical trials that include pulmonary endpoints that allow assessment of respiratory muscle status, especially in nonambulatory subjects. Parent Project Muscular Dystrophy (PPMD) convened a workshop in Bethesda, Maryland, on April 14 and 15, 2016, to summarize published respiratory data in DMD and give guidance to clinical researchers assessing the effect of interventions on pulmonary outcomes in DMD.

  9. Posterior amorphous corneal dystrophy caused by a de novo deletion.

    Science.gov (United States)

    Odent, S; Casteels, I; Cassiman, C; Dieltiëns, M; Hua, M-T; Devriendt, K

    2017-01-01

    We present a newborn diagnosed with posterior amorphous corneal dystrophy (PACD). PACD is a rare disorder with partial or complete posterior lamellar corneal opacification. Genetic screening showed a deletion of chromosome 12q21.33-q22 containing the identified four small leucine-rich proteoglycans (SLRP's) associated with this particular dystrophy. Neither parents were carrier of the deletion. To our knowledge, this is the first report of a de novo mutation causing PACD.

  10. The Association Between Subretinal Drusenoid Deposits in Older Adults in Normal Macular Health and Incident Age-Related Macular Degeneration.

    Science.gov (United States)

    Huisingh, Carrie; McGwin, Gerald; Neely, David; Zarubina, Anna; Clark, Mark; Zhang, Yuhua; Curcio, Christine A; Owsley, Cynthia

    2016-02-01

    Subretinal drusenoid deposits (SDD) have been associated with the progression to late age-related macular degeneration (AMD). To determine whether SDD in eyes in normal macular health increases risk for early AMD, this study examined the association between presence of SDD at baseline in a cohort of older adults in normal macular health and incident AMD 3 years later. Subjects enrolled in the Alabama Study on Early Age-Related Macular Degeneration (ALSTAR) were assessed for the presence of SDD using color fundus photos, infrared reflectance and fundus autofluorescence images, and spectral-domain optical coherence tomography volumes. The study sample included 799 eyes from 455 participants in normal macular health per grading of color fundus photographs using the 9-step Age-Related Eye Disease Study (AREDS) classification system. Age-related macular degeneration was defined as eyes having an AREDS grade ≥2 at the 3-year follow-up. Twenty-five percent of participants had SDD in one or both eyes at baseline. At follow-up visit, 11.9% of eyes in the sample developed AMD. Compared to eyes without SDD, those with SDD were 2.24 (95% confidence interval [CI] 1.36-3.70) times more likely to have AMD at follow-up. After adjusting for age, C-reactive protein quartile, and family history of AMD, the association persisted. Results suggest that SDD in older eyes with normal macular health as defined by the AREDS scale is a risk factor for the development of early AMD. Older adults in seemingly normal macular health yet having SDD may warrant closer clinical monitoring for the possible onset of early AMD.

  11. Outside in: The matrix as a modifier of muscular dystrophy.

    Science.gov (United States)

    Quattrocelli, Mattia; Spencer, Melissa J; McNally, Elizabeth M

    2017-03-01

    Muscular dystrophies are genetic conditions leading to muscle degeneration and often, impaired regeneration. Duchenne Muscular Dystrophy is a prototypical form of muscular dystrophy, and like other forms of genetically inherited muscle diseases, pathological progression is variable. Variability in muscular dystrophy can arise from differences in the manner in which the primary mutation impacts the affected protein's function; however, clinical heterogeneity also derives from secondary mutations in other genes that can enhance or reduce pathogenic features of disease. These genes, called genetic modifiers, regulate the pathophysiological context of dystrophic degeneration and regeneration. Understanding the mechanistic links between genetic modifiers and dystrophic progression sheds light on pathologic remodeling, and provides novel avenues to therapeutically intervene to reduce muscle degeneration. Based on targeted genetic approaches and unbiased genomewide screens, several modifiers have been identified for muscular dystrophy, including extracellular agonists of signaling cascades. This review will focus on identification and possible mechanisms of recently identified modifiers for muscular dystrophy, including osteopontin, latent TGFβ binding protein 4 (LTBP4) and Jagged1. Moreover, we will review the investigational approaches that aim to target modifier pathways and thereby counteract dystrophic muscle wasting. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Cardiac function in muscular dystrophy associates with abdominal muscle pathology.

    Science.gov (United States)

    Gardner, Brandon B; Swaggart, Kayleigh A; Kim, Gene; Watson, Sydeaka; McNally, Elizabeth M

    The muscular dystrophies target muscle groups differentially. In mouse models of muscular dystrophy, notably the mdx model of Duchenne Muscular Dystrophy, the diaphragm muscle shows marked fibrosis and at an earlier age than other muscle groups, more reflective of the histopathology seen in human muscular dystrophy. Using a mouse model of limb girdle muscular dystrophy, the Sgcg mouse, we compared muscle pathology across different muscle groups and heart. A cohort of nearly 200 Sgcg mice were studied using multiple measures of pathology including echocardiography, Evans blue dye uptake and hydroxyproline content in multiple muscle groups. Spearman rank correlations were determined among echocardiographic and pathological parameters. The abdominal muscles were found to have more fibrosis than other muscle groups, including the diaphragm muscle. The abdominal muscles also had more Evans blue dye uptake than other muscle groups. The amount of diaphragm fibrosis was found to correlate positively with fibrosis in the left ventricle, and abdominal muscle fibrosis correlated with impaired left ventricular function. Fibrosis in the abdominal muscles negatively correlated with fibrosis in the diaphragm and right ventricles. Together these data reflect the recruitment of abdominal muscles as respiratory muscles in muscular dystrophy, a finding consistent with data from human patients.

  13. Comparative Study of Anterior Eye Segment Measurements with Spectral Swept-Source and Time-Domain Optical Coherence Tomography in Eyes with Corneal Dystrophies

    Directory of Open Access Journals (Sweden)

    Anna K. Nowinska

    2015-01-01

    Full Text Available Purpose. To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT in eyes with corneal dystrophies (CDs. Methods. Fifty healthy volunteers (50 eyes and 54 patients (96 eyes diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD type 1 = 7 eyes, granular CD type 2 = 2 eyes; macular CD = 23 eyes; and Fuchs endothelial CD = 31 eyes were recruited for the study. Automated and manual central corneal thickness (aCCT, mCCT, anterior chamber depth (ACD, and nasal and temporal trabecular iris angle (nTIA, tTIA were measured and compared with Bland-Altman plots. Results. Good agreement between the TD and SS OCT measurements was demonstrated for mCCT and aCCT in normal individuals and for mCCT in the CDs group. The ACD, nTIA, and tTIA measurements differed significantly in both groups. TBCD, LCD, and FECD caused increased CCT. MCD caused significant corneal thinning. FECD affected all analyzed parameters. Conclusions. Better agreement between SS OCT and TD OCT measurements was demonstrated in normal individuals compared to the CDs group. OCT provides comprehensive corneal deposits analysis and demonstrates the association of CD with CCT, ACD, and TIA measurements.

  14. Reflex sympathetic dystrophy after a burn injury.

    Science.gov (United States)

    van der Laan, L; Goris, R J

    1996-06-01

    Reflex sympathetic dystrophy (RSD) is a disease that can appear after minor trauma or operation to an extremity. The injury may vary from a simple contusion to a fracture. The prevalence of burns as a cause of RSD, within a population of 829 patients with RSD, was studied retrospectively. Prospectively, we documented the medical history, signs and symptoms of all patients with RSD, seen by our department during the period from January 1984 to 31 December 1994. Four patients had developed RSD after a burn injury, resulting in a prevalence of 0.5 per cent. Though the clinical signs of early RSD are similar to those of a (thermal) burn, alertness to recognize inflammatory signs, in combination with the increase in complaints after exercise, is necessary for early diagnosis and treatment of the complicating RSD.

  15. Cocaine-induced reflex sympathetic dystrophy.

    Science.gov (United States)

    Gay, D; Singh, A

    2000-11-01

    Reflex sympathetic dystrophy (RSD) usually follows traumatic injuries or neurologic disorders. The authors report a rare case of RSD that followed intraarterial administration of cocaine in a patient with a history of intravenous drug abuse. The cocaine was self-administered inadvertently into the femoral artery rather than the femoral vein. Despite the intense pain, swelling, and dermatologic changes that followed, the diagnosis of RSD was not considered until scintigraphic studies suggested it. A combination of normal radiographs, a normal leukocyte study, and an abnormal bone scan in the region of tenderness and swelling excluded other possibilities and suggested RSD. In our patient, RSD was likely caused by an ischemic autonomic injury from the vasoconstrictor action of cocaine. Clinical follow-up and relief using phentolamine, an alpha-adrenergic blocker and vasodilator, made the diagnosis of RSD most likely.

  16. Current treatment of adult Duchenne muscular dystrophy.

    Science.gov (United States)

    Wagner, Kathryn R; Lechtzin, Noah; Judge, Daniel P

    2007-02-01

    Patients with Duchenne muscular dystrophy (DMD) are living longer into adulthood due to a variety of improvements in health care practices. This growing patient population presents new therapeutic challenges. In this article, we review the literature on current treatment of adult DMD as well as our own experience as a multidisciplinary team actively caring for 23 men ages 19-38 years of age. Approximately one quarter of our adult DMD patients have remained on moderate dose corticosteroids. Daily stretching exercises are recommended, particularly of the distal upper extremities. Cardiomyopathy is anticipated, detected, and treated early with afterload reduction. Oxygen saturation monitoring, noninvasive positive pressure ventilation and cough assist devices are routinely used. Other medical issues such as osteoporosis, gastrointestinal and urinary symptoms are addressed. Current and future therapies directed at prolonging the lifespan of those with DMD will result in further increases in this adult population with special needs and concerns. These needs are best addressed in a multidisciplinary clinic.

  17. Electrodiagnostic evaluation in feline hypertrophic muscular dystrophy.

    Science.gov (United States)

    Howard, J; Jaggy, A; Busato, A; Gaschen, F

    2004-07-01

    Standard needle electromyography (EMG) of 56 muscles and nerve conduction velocities (NCV) of the ulnar and common peroneal nerves were investigated in each of six cats affected with hypertrophic feline muscular dystrophy, 10 related heterozygote carriers and 10 normal cats. The EMG findings were considered normal in carrier and control cats, and consisted of 33% normal readings, 22% myotonic discharges, 18% fibrillation potentials, 11% prolonged insertional potentials, 10% complex repetitive discharges and 6% positive sharp waves in affected cats. Muscles of the proximal limbs were most frequently affected. No differences in NCV were found between the three cat groups. It was concluded that dystrophin-deficient dystrophic cats have widespread and frequent EMG changes, predominantly myotonic discharges and fibrillation potentials, which are most pronounced in the proximal appendicular muscles.

  18. Natural history of Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Qing KE

    2015-05-01

    Full Text Available Duchenne muscular dystrophy (DMD is X-linked recessive hereditary disease. DMD gene mutations result in dystrophin deficiency, which causes not only muscle movement disorders but also scoliosis, cognitive dysfunction, urinary tract diseases, respiratory diseases and heart diseases. Most patients die in early adult for respiratory and circulatory failure. Early multidisciplinary therapies will significantly delay disease progression and improve patients' quality of life. However, DMD diagnosis and treatment exist significantly time delay now. In this study, we review the natural history of DMD, including motor, cognitive, respiratory and heart function, for improving DMD early recognition, diagnosis and treatment, so as to benefit DMD patients. DOI: 10.3969/j.issn.1672-6731.2015.05.004

  19. Sleep Disordered Breathing in Duchenne Muscular Dystrophy.

    Science.gov (United States)

    LoMauro, Antonella; D'Angelo, Maria Grazia; Aliverti, Andrea

    2017-05-01

    This review aims to explain the inevitable imbalance between respiratory load, drive, and muscular force that occurs in the natural aging of Duchenne muscular dystrophy and that predisposes these patients to sleep disordered breathing (SDB). In DMD, SDB is characterized by oxygen desaturation, apneas, hypercapnia, and hypoventilation during sleep and ultimately develops into respiratory failure during wakefulness. It can be present in all age groups. Young patients risk obstructive apneas because of weight gain, secondary to progressive physical inactivity and prolonged corticosteroid therapy; older patients hypoventilate and desaturate because of respiratory muscle weakness, in particular the diaphragm. These conditions are further exacerbated during REM sleep, the phase of maximal muscle hypotonia during which the diaphragm has to provide most of the ventilation. Evidence is given to the daytime predictors of early symptoms of SDB, important indicators for the proper time to initiate mechanical ventilation.

  20. Treatment of idiopathic macular hole with silicone oil tamponade

    Directory of Open Access Journals (Sweden)

    Ivanovska-Adjievska B

    2012-09-01

    Full Text Available Biljana Ivanovska-Adjievska,1 Salih Boskurt,1 Faruk Semiz,1 Hakan Yuzer,1 Vesna Dimovska-Jordanova21European Eye Hospital, Skopje, Macedonia, 2Clinic for Eye Diseases, University "St Cyril and Methodius", Skopje, MacedoniaPurpose: We analyzed the anatomical and visual outcomes after surgical treatment of idiopathic macular holes with pars plana vitrectomy, internal limiting membrane (ILM peeling using Brilliant Blue dye, and silicone oil tamponade without postoperative posturing.Methods: This was a retrospective interventional study of 10 eyes in eight patients who underwent surgical treatment of idiopathic macular holes using pars plana vitrectomy, ILM peeling using Brilliant Blue dye, and silicone oil tamponade without postoperative posturing. The preoperative staging of macular holes and postoperative anatomic outcomes were assessed using spectral-domain optical coherence tomography.Results: All patients were women with a mean age of 66.86 ± 4.8 years. In two patients, bilateral macular holes were present and both eyes were operated on. Stage 2 macular hole was diagnosed in three eyes, three eyes had stage 3, and four eyes had stage 4 macular holes. Anatomical success and closure of the macular hole was achieved in nine eyes (90% after one operation. In one eye, the macular hole was closed after reoperation. The preoperative mean best-corrected visual acuity (BCVA was 0.15 decimal units (0.8 logMAR units. Until the end of the follow-up period, BCVA was 0.25 decimal units (0.6 logMAR units. Visual acuity was improved in seven patients (70%. In two patients (20%, visual acuity remained at the same level, and in one eye (10%, visual acuity decreased. Postoperatively, all patients reported a significant reduction of metamorphopsia.Conclusion: Initial results after 20G pars plana vitrectomy with peeling of the ILM, use of dye (Brilliant Blue, and tamponade with silicone oil without postoperative posturing gave good anatomical and functional

  1. Risk factors of age-related macular degeneration in Argentina

    Directory of Open Access Journals (Sweden)

    María Eugenia Nano

    2013-04-01

    Full Text Available PURPOSES: To assess the risk factors of age-related macular degeneration in Argentina using a case-control study. METHODS: Surveys were used for subjects' antioxidant intake, age/gender, race, body mass index, hypertension, diabetes (and type of treatment, smoking, sunlight exposure, red meat consumption, fish consumption, presence of age-related macular degeneration and family history of age-related macular degeneration. Main effects models for logistic regression and ordinal logistic regression were used to analyze the results. RESULTS: There were 175 cases and 175 controls with a mean age of 75.4 years and 75.5 years, respectively, of whom 236 (67.4% were female. Of the cases with age-related macular degeneration, 159 (45.4% had age-related macular degeneration in their left eyes, 154 (44.0% in their right eyes, and 138 (39.4% in both eyes. Of the cases with age-related macular degeneration in their left eyes, 47.8% had the dry type, 40.3% had the wet type, and the type was unknown for 11.9%. The comparable figures for right eyes were: 51.9%, 34.4%, and 13.7%, respectively. The main effects model was dominated by higher sunlight exposure (OR [odds ratio]: 3.3 and a family history of age-related macular degeneration (OR: 4.3. Other factors included hypertension (OR: 2.1, smoking (OR: 2.2, and being of the Mestizo race, which lowered the risk of age-related macular degeneration (OR: 0.40. Red meat/fish consumption, body mass index, and iris color did not have an effect. Higher age was associated with progression to more severe age-related macular degeneration. CONCLUSION: Sunlight exposure, family history of age-related macular degeneration, and an older age were the significant risk factors. There may be other variables, as the risk was not explained very well by the existing factors. A larger sample may produce different and better results.

  2. Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

    Directory of Open Access Journals (Sweden)

    Kunka Kamenarova

    2013-01-01

    Full Text Available Here, we report two novel GUCA1A (the gene for guanylate cyclase activating protein 1 mutations identified in unrelated Spanish families affected by autosomal dominant retinal degeneration (adRD with cone and rod involvement. All patients from a three-generation adRD pedigree underwent detailed ophthalmic evaluation. Total genome scan using single-nucleotide polymorphisms and then the linkage analysis were undertaken on the pedigree. Haplotype analysis revealed a 55.37 Mb genomic interval cosegregating with the disease phenotype on chromosome 6p21.31-q15. Mutation screening of positional candidate genes found a heterozygous transition c.250C>T in exon 4 of GUCA1A, corresponding to a novel mutation p.L84F. A second missense mutation, c.320T>C (p.I107T, was detected by screening of the gene in a Spanish patients cohort. Using bioinformatics approach, we predicted that either haploinsufficiency or dominant-negative effect accompanied by creation of a novel function for the mutant protein is a possible mechanism of the disease due to c.250C>T and c.320T>C. Although additional functional studies are required, our data in relation to the c.250C>T mutation open the possibility that transacting factors binding to de novo created recognition site resulting in formation of aberrant splicing variant is a disease model which may be more widespread than previously recognized as a mechanism causing inherited RD.

  3. Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.

    NARCIS (Netherlands)

    Schulz, H.L.; Stoehr, H.; White, K.; Driel, M.A. van; Hoyng, C.B.; Cremers, F.P.M.; Weber, B.

    2002-01-01

    PURPOSE: Computer-assisted sampling of EST data contained within the UniGene human sequences collection is being used to establish a catalog of novel genes that are expressed exclusively or predominantly in the human retina. This provides a valuable source for candidate genes possibly involved in

  4. Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

    DEFF Research Database (Denmark)

    Schatz, Patrik; Sharon, Dror; Al-Hamdani, Sermed

    2016-01-01

    PURPOSE: Our aim was to analyze retinal structure in young patients with Best disease with reference to future gene therapy. METHODS: This was a retrospective observational spectral domain optical coherence tomography study of four patients aged 10 years or less with Best disease. RESULTS: Findings...... could be visualized seemingly undisturbed above the vitelliform lesions, except in the case of choroidal neovascularization. CONCLUSIONS: Clinical variability is evident even among young patients aged 10 years or less with Best disease. The earliest structural alterations seem to occur at the level...

  5. Microcurrent stimulation in the treatment of dry and wet macular degeneration

    National Research Council Canada - National Science Library

    Chaikin, Laurie; Kashiwa, Kellen; Bennet, Michael; Papastergiou, George; Gregory, Walter

    2015-01-01

    To determine the safety and efficacy of the application of transcutaneous (transpalpebral) microcurrent stimulation to slow progression of dry and wet macular degeneration or improve vision in dry and wet macular degeneration...

  6. Macular xanthophylls, lipoprotein-related genes, and age-related macular degeneration1234

    Science.gov (United States)

    Koo, Euna; Neuringer, Martha; SanGiovanni, John Paul

    2014-01-01

    Plant-based macular xanthophylls (MXs; lutein and zeaxanthin) and the lutein metabolite meso-zeaxanthin are the major constituents of macular pigment, a compound concentrated in retinal areas that are responsible for fine-feature visual sensation. There is an unmet need to examine the genetics of factors influencing regulatory mechanisms and metabolic fates of these 3 MXs because they are linked to processes implicated in the pathogenesis of age-related macular degeneration (AMD). In this work we provide an overview of evidence supporting a molecular basis for AMD-MX associations as they may relate to DNA sequence variation in AMD- and lipoprotein-related genes. We recognize a number of emerging research opportunities, barriers, knowledge gaps, and tools offering promise for meaningful investigation and inference in the field. Overviews on AMD- and high-density lipoprotein (HDL)–related genes encoding receptors, transporters, and enzymes affecting or affected by MXs are followed with information on localization of products from these genes to retinal cell types manifesting AMD-related pathophysiology. Evidence on the relation of each gene or gene product with retinal MX response to nutrient intake is discussed. This information is followed by a review of results from mechanistic studies testing gene-disease relations. We then present findings on relations of AMD with DNA sequence variants in MX-associated genes. Our conclusion is that AMD-associated DNA variants that influence the actions and metabolic fates of HDL system constituents should be examined further for concomitant influence on MX absorption, retinal tissue responses to MX intake, and the capacity to modify MX-associated factors and processes implicated in AMD pathogenesis. PMID:24829491

  7. Single night postoperative prone posturing in idiopathic macular hole surgery.

    LENUS (Irish Health Repository)

    2012-02-01

    Purpose. To evaluate the role of postoperative prone posturing for a single night in the outcome of trans pars plana vitrectomy (TPPV) with internal limiting membrane (ILM) peel and 20% perfluoroethane (C2F6) internal tamponade for idiopathic macular hole. Methods. This prospective trial enrolled 14 eyes in 14 consecutive patients with idiopathic macular hole. All eyes underwent TPPV with vision blue assisted ILM peeling with and without phacoemulsification and intraocular lens (IOL) for macular hole. Intraocular gas tamponade (20% C2F6) was used in all cases with postoperative face-down posturing overnight and without specific posturing afterwards. LogMAR visual acuity, appearance by slit-lamp biomicroscopy, and ocular coherence tomography (OCT) scans were compared preoperatively and postoperatively to assess outcome. Results. Among 14 eyes recruited, all eyes were phakic; 50% of patients underwent concurrent phacoemulsification with IOL. The macular holes were categorized preoperatively by OCT appearance, 4 (28.57%) were stage 2, 7 (50%) were stage 3, and 3 (21.43%) were stage 4. Mean macular hole size was 0.35 disk diameters. Symptoms of macular hole had been present for an average of 6.5 months. All holes (100%) were closed 3 and 6 months postoperatively. Mean visual acuity (logMAR) was improved to 0.61 at 3 months and was stable at 6 months after the surgery. None of the eyes had worse vision postoperatively. Conclusions. Vitrectomy with ILM peeling and 20% C2F6 gas with a brief postoperative 1 night prone posturing regimen is a reasonable approach to achieve anatomic closure in idiopathic macular hole. Concurrent cataract extraction did not alter outcomes and was not associated with any additional complications.

  8. Mutation-Induced Deamidation of Corneal Dystrophy-Related Transforming Growth Factor β-Induced Protein

    DEFF Research Database (Denmark)

    Nielsen, Nadia Sukusu; Juhl, Dennis Wilkens; Poulsen, Ebbe Toftgaard

    2017-01-01

    Mutations in the transforming growth factor β-induced protein (TGFBIp) cause phenotypically diverse corneal dystrophies, where protein aggregation in the cornea leads to severe visual impairment. Previous studies have shown a relationship between mutant-specific corneal dystrophy phenotypes...

  9. Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy

    DEFF Research Database (Denmark)

    Andersen, Søren P; Sveen, Marie-Louise; Hansen, Regitze S

    2013-01-01

    We investigated the effect of high-intensity exercise on plasma creatine kinase (CK) in patients with muscular dystrophies.......We investigated the effect of high-intensity exercise on plasma creatine kinase (CK) in patients with muscular dystrophies....

  10. A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

    NARCIS (Netherlands)

    Richard, I.; Bourg, N.; Marchand, S.; Alibert, O.; Eymard, B.; van der Kooi, A. J.; Jackson, C. E.; Garcia, C.; Burgunder, J. M.; Legum, C.; de Visser, M.; Fardeau, M.; Beckmann, J. S.

    1999-01-01

    The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogram and muscle biopsy. Eight independent purely

  11. Experimental Treatment for Duchenne Muscular Dystrophy Gets Boost from Existing Medication

    Science.gov (United States)

    ... on Research Spotlight on Research Experimental Treatment for Duchenne Muscular Dystrophy Gets Boost from Existing Medication By Colleen Labbe, ... the effects of a promising experimental treatment for Duchenne muscular dystrophy (DMD), according to research partially funded by the ...

  12. Does Body Mass Index Predict Premature Cardiomyopathy Onset for Duchenne Muscular Dystrophy?

    Science.gov (United States)

    McKane, Meghann; Soslow, Jonathan H; Xu, Meng; Saville, Benjamin R; Slaughter, James C; Burnette, W Bryan; Markham, Larry W

    2017-04-01

    Duchenne muscular dystrophy leads to cardiomyopathy. The objective of this study was to estimate the association of body mass index with cardiomyopathy onset. Cardiomyopathy was defined as left ventricular ejection fraction Duchenne muscular dystrophy subjects and age of cardiomyopathy onset.

  13. Outcome of Long-Term Corticosteroid Treatment in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical orthopedic effects of chronic daily corticosteroid treatment were evaluated by chart review in boys with genetically confirmed Duchenne muscular dystrophy (DMD followed at the Ohio State University Muscular Dystrophy Clinic between 2000 and 2003.

  14. Outcome of Long-Term Corticosteroid Treatment in Duchenne Muscular Dystrophy

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    The clinical orthopedic effects of chronic daily corticosteroid treatment were evaluated by chart review in boys with genetically confirmed Duchenne muscular dystrophy (DMD) followed at the Ohio State University Muscular Dystrophy Clinic between 2000 and 2003.

  15. Muscular Dystrophy Campaign: Putting Some Financial Muscle Behind Finding a Cure

    OpenAIRE

    Pohlschmidt, Marita

    2012-01-01

    The Muscular Dystrophy Campaign, a London-based charitable organization, funds research on muscle function and muscle disease, including the study of muscle stem cells. Dr. Marita Pohlschmidt, the Muscular Dystrophy Campaign's director of research, describes its vision and goals.

  16. Age related macular degeneration and visual disability.

    Science.gov (United States)

    Christoforidis, John B; Tecce, Nicola; Dell'Omo, Roberto; Mastropasqua, Rodolfo; Verolino, Marco; Costagliola, Ciro

    2011-02-01

    Age-related macular degeneration (AMD) is the leading cause of central blindness or low vision among the elderly in industrialized countries. AMD is caused by a combination of genetic and environmental factors. Among modifiable environmental risk factors, cigarette smoking has been associated with both the dry and wet forms of AMD and may increase the likelihood of worsening pre-existing AMD. Despite advances, the treatment of AMD has limitations and affected patients are often referred for low vision rehabilitation to help them cope with their remaining eyesight. The characteristic visual impairment for both forms of AMD is loss of central vision (central scotoma). This loss results in severe difficulties with reading that may be only partly compensated by magnifying glasses or screen-projection devices. The loss of central vision associated with the disease has a profound impact on patient quality of life. With progressive central visual loss, patients lose their ability to perform the more complex activities of daily living. Common vision aids include low vision filters, magnifiers, telescopes and electronic aids. Low vision rehabilitation (LVR) is a new subspecialty emerging from the traditional fields of ophthalmology, optometry, occupational therapy, and sociology, with an ever-increasing impact on the usual concepts of research, education, and services for visually impaired patients. Relatively few ophthalmologists practise LVR and fewer still routinely use prismatic image relocation (IR) in AMD patients. IR is a method of stabilizing oculomotor functions with the purpose of promoting better function of preferred retinal loci (PRLs). The aim of vision rehabilitation therapy consists in the achievement of techniques designed to improve PRL usage. The use of PRLs to compensate for diseased foveae has offered hope to these patients in regaining some function. However, in a recently published meta-analysis, prism spectacles were found to be unlikely to be of

  17. Macular morphology and visual acuity in the comparison of age-related macular degeneration treatments trials.

    Science.gov (United States)

    Jaffe, Glenn J; Martin, Daniel F; Toth, Cynthia A; Daniel, Ebenezer; Maguire, Maureen G; Ying, Gui-Shuang; Grunwald, Juan E; Huang, Jiayan

    2013-09-01

    To describe the effects of treatment for 1 year with ranibizumab or bevacizumab on macular morphology and the association of macular morphology with visual acuity (VA) in eyes with neovascular age-related macular degeneration (AMD). Prospective cohort study within a randomized clinical trial. Participants in the Comparison of Age-related Macular Degeneration Treatments Trials. Participants were assigned randomly to treatment with ranibizumab or bevacizumab on a monthly or as-needed schedule. Optical coherence tomography (OCT), fluorescein angiography (FA), color fundus photography (FP), and VA testing were performed periodically throughout 52 weeks. Masked readers graded images. General linear models were applied to evaluate effects of time and treatment on outcomes. Fluid type and location and thickness by OCT, size, and lesion composition on FP, FA, and VA. Intraretinal fluid (IRF), subretinal fluid (SRF), subretinal pigment epithelium fluid, and retinal, subretinal, and subretinal tissue complex thickness decreased in all treatment groups. A higher proportion of eyes treated monthly with ranibizumab had fluid resolution at 4 weeks, and the difference persisted through 52 weeks. At 52 weeks, there was little association between the presence of fluid of any type (without regard to fluid location) and the mean VA. However, at all time points, eyes with residual IRF, especially foveal IRF, had worse mean VA (9 letters) than those without IRF. Eyes with abnormally thin (212 μm) retinas had worse VA than those with normal thickness (120-212 μm). At week 52, eyes with larger neovascular lesions or with foveal scar had worse VA than eyes without these features. Anti-vascular endothelial growth factor (VEGF) therapy reduced lesion activity and improved VA in all treatment groups. At all time points, eyes with residual IRF had worse VA than those without. Eyes with abnormally thin or thick retinas, residual large lesions, and scar also had worse VA. Monthly ranibizumab

  18. A CASE OF FULL-THICKNESS MACULAR HOLE IN EYE WITH FOCAL CHOROIDAL EXCAVATION.

    Science.gov (United States)

    Fayyad, Omar Faisal; Al-Hashimi, Mustafa Raad; Fayyad, Faisal Tawfeeq

    2016-12-09

    To report an association between a Stage 4 full-thickness macular hole and focal choroidal excavation. Case report. A 46-year-old male patient with high myopia was referred for macular hole surgery and found to have an associated focal choroidal excavation. The patient underwent uneventful combined procedure with closure of macular hole. Successful macular hole surgery can be achieved even in the presence of focal choroidal excavation.

  19. Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version)"

    OpenAIRE

    Xi-hua LI

    2015-01-01

    The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD) and United Parent Projects Muscular Dystrophy (UPPMD)] and Translational Research in Europe: Assessment and Treatment of Neuromuscular Disease (TREAT-NMD) network. The main document was published i...

  20. Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.

    Science.gov (United States)

    Song, Hongxin; Rossi, Ethan A; Stone, Edwin; Latchney, Lisa; Williams, David; Dubra, Alfredo; Chung, Mina

    2018-01-01

    Several genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood. Here we combine genotyping with high-resolution adaptive optics retinal imaging to elucidate the retinal phenotype at a cellular level in patients with AD-CRD harbouring a defect in the GUCA1A gene. Nine affected members of a four-generation AD-CRD pedigree and three unaffected first-degree relatives underwent clinical examinations including visual acuity, fundus examination, Goldmann perimetry, spectral domain optical coherence tomography and electroretinography. Genome-wide scan followed by bidirectional sequencing was performed on all affected participants. High-resolution imaging using a custom adaptive optics scanning light ophthalmoscope (AOSLO) was performed for selected participants. Clinical evaluations showed a range of disease severity from normal fundus appearance in teenaged patients to pronounced macular atrophy in older patients. Molecular genetic testing showed a mutation in in GUCA1A segregating with disease. AOSLO imaging revealed that of the two teenage patients with mild disease, one had severe disruption of the photoreceptor mosaic while the other had a normal cone mosaic. AOSLO imaging demonstrated variability in the pattern of cone and rod cell loss between two teenage cousins with early AD-CRD, who had similar clinical features and had the identical disease-causing mutation in GUCA1A . This finding suggests that a mutation in GUCA1A does not lead to the same degree of AD-CRD in all patients. Modifying factors may mitigate or augment disease severity, leading to different retinal cellular phenotypes. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  1. FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1.

    Directory of Open Access Journals (Sweden)

    Sandra J Feeney

    Full Text Available Facioscapulohumeral muscular dystrophy (FSHD is an autosomal-dominant disease with no effective treatment. The genetic cause of FSHD is complex and the primary pathogenic insult underlying the muscle disease is unknown. Several disease candidate genes have been proposed including DUX4 and FRG1. Expression analysis studies of FSHD report the deregulation of genes which mediate myoblast differentiation and fusion. Transgenic mice overexpressing FRG1 recapitulate the FSHD muscular dystrophy phenotype. Our current study selectively examines how increased expression of FRG1 may contribute to myoblast differentiation defects. We generated stable C2C12 cell lines overexpressing FRG1, which exhibited a myoblast fusion defect upon differentiation. To determine if myoblast fusion defects contribute to the FRG1 mouse dystrophic phenotype, this strain was crossed with skeletal muscle specific FHL1-transgenic mice. We previously reported that FHL1 promotes myoblast fusion in vitro and FHL1-transgenic mice develop skeletal muscle hypertrophy. In the current study, FRG1 mice overexpressing FHL1 showed an improvement in the dystrophic phenotype, including a reduced spinal kyphosis, increased muscle mass and myofiber size, and decreased muscle fibrosis. FHL1 expression in FRG1 mice, did not alter satellite cell number or activation, but enhanced myoblast fusion. Primary myoblasts isolated from FRG1 mice showed a myoblast fusion defect that was rescued by FHL1 expression. Therefore, increased FRG1 expression may contribute to a muscular dystrophy phenotype resembling FSHD by impairing myoblast fusion, a defect that can be rescued by enhanced myoblast fusion via expression of FHL1.

  2. Intravitreal gas injection for the treatment of diabetic macular edema

    Directory of Open Access Journals (Sweden)

    McHugh D

    2011-10-01

    Full Text Available Dominic McHugh, Bhaskar Gupta, Manzar Saeed King's College Hospital, Denmark Hill, London, England, UK Purpose: This study investigates the efficacy of an intravitreal gas injection in inducing a posterior vitreous detachment (PVD in patients with clinically significant diabetic macular edema refractory to laser therapy. Methods: A local ethics committee-approved technique of an intravitreal injection of pure perfluoropropane gas (C3F8 was performed for all participants. After a period of prone positioning, the patients underwent regular and detailed clinical review. Main outcome measures: The induction of a PVD, change in macular thickness, change in visual acuity. Results: A PVD was induced in all five eyes with subsequent signs of reduction in macular thickness and resolution of exudates. Mean visual improvement was 11 ETDRS (Early Treatment Diabetic Retinopathy Study letters (range 4–21. Apart from a transient vitreous hemorrhage in one eye, there were no significant treatment-related complications. Conclusion: The induction of a PVD by pneumatic retinopexy appears to have a significant influence on diabetic macular edema in eyes which have not successfully responded to macular laser therapy. A randomized clinical trial is justified on the basis of the initial promising data. Keywords: optical coherence tomography, OCT, posterior vitreous detachment, perfluoropropane

  3. VITRECTOMY FOR MACULAR RETINOSCHISIS WITHOUT A DETECTABLE OPTIC DISK PIT.

    Science.gov (United States)

    Haruta, Masatoshi; Yamakawa, Ryoji

    2017-05-01

    To evaluate the efficacy of vitrectomy in the treatment of macular retinoschisis without a detectable optic disk pit. This retrospective interventional case series included eight patients with acquired, unilateral macular retinoschisis with or without foveal detachment. Patients with an optic disk pit, vitreomacular traction, or high myopia were excluded. Six of the eight patients underwent vitrectomy with internal limiting membrane peeling and fluid-air exchange. The surgical outcome was evaluated in terms of the improvement in the macular anatomy and the best-corrected visual acuity. During vitrectomy, all the six eyes were confirmed to have preexisting posterior vitreous detachment. Macular retinoschisis was resolved or reduced in all the six eyes after vitrectomy. The mean central foveal thickness showed significant improvement at the time of the patient's final visit after vitrectomy. The mean best-corrected visual acuity was 20/52 before surgery and 20/31 at the final visit. Vitrectomy might be effective for the treatment of macular retinoschisis without an optic disk pit. Although clinically similar to optic pit maculopathy except for the absence of pit, our intraoperative observations of the posterior hyaloid membrane suggest that maculopathy without optic disk pit has a distinct pathogenesis.

  4. Parainflammation, chronic inflammation, and age-related macular degeneration.

    Science.gov (United States)

    Chen, Mei; Xu, Heping

    2015-11-01

    Inflammation is an adaptive response of the immune system to noxious insults to maintain homeostasis and restore functionality. The retina is considered an immune-privileged tissue as a result of its unique anatomic and physiologic properties. During aging, the retina suffers from a low-grade chronic oxidative insult, which sustains for decades and increases in level with advancing age. As a result, the retinal innate-immune system, particularly microglia and the complement system, undergoes low levels of activation (parainflammation). In many cases, this parainflammatory response can maintain homeostasis in the healthy aging eye. However, in patients with age-related macular degeneration, this parainflammatory response becomes dysregulated and contributes to macular damage. Factors contributing to the dysregulation of age-related retinal parainflammation include genetic predisposition, environmental risk factors, and old age. Dysregulated parainflammation (chronic inflammation) in age-related macular degeneration damages the blood retina barrier, resulting in the breach of retinal-immune privilege, leading to the development of retinal lesions. This review discusses the basic principles of retinal innate-immune responses to endogenous chronic insults in normal aging and in age-related macular degeneration and explores the difference between beneficial parainflammation and the detrimental chronic inflammation in the context of age-related macular degeneration. © Society for Leukocyte Biology.

  5. Effect of methazolamide in patients with refractory uveitic macular edema

    Directory of Open Access Journals (Sweden)

    Yun-Bin Jiang

    2017-07-01

    Full Text Available AIM:To evaluate the efficacy and safety of methazolamide in treating refractory uveitic macular edema. METHODS: Retrospective self-controlled study was designed. A total of 15 patients(20 eyeswith refractory uveitic macular edema which used methazolamide as adjuvant therapy were enrolled in Shanghai First People's Hospital from January 2015 to June 2016. The changes of central macular thickness(CMTand best corrected visual acuity(BCVAwere observed at baseline and 2, 4, 8wk after treatment. We also focused on the incidence of complications and relapse. RESULTS: The CMT was 445.95±154.10μm, 338.83±138.34μm, 251.50±40.20μm, 244.90±35.68μm at baseline, 2, 4 and 8wk after treatment, respectively. The differences among them were statistically significant(F=15.467, PF=5.208, PCONCLUSION: Methazolamide is beneficial in improving macular edema and vision in 4wk. When the cumulative dose is more than 1400mg, we need pay attention to the complications. After discontinuing methazolamide for 1wk, macular edema relapsed in some patients, and more than half of patients recurred after 3mo. So the patients should be followed closely in 3mo after withdrawal of methazolamide.

  6. Macular pseudohaemorrhage secondary to Allen Dot artefact.

    Science.gov (United States)

    Michaels, Luke; Alexander, Philip; Newsom, Richard

    2015-01-05

    A 34-year-old highly myopic (-11.00 D) woman presented to eye clinic with a 3 day history of right eye paracentral blurring. Visual acuities were 6/6 bilaterally. Clinical examination was normal. Fundus photography showed the classic appearance of a macular haemorrhage. This is a recognised complication of high myopia and would have accounted for the patient's symptoms. However, further photography showed that the haemorrhage seemed to 'jump' around the fundus and was even present in the fellow eye. The apparent haemorrhage was revealed to be an imaging artefact. The 'Allen Dot' is a 6 mm black mask incorporated into retinal cameras to reduce reflection. Rarely, in highly myopic eyes, optical artefact can result. To the best of our knowledge, we are the first in the literature to report artefacts from the Allen Dot masquerading as ophthalmic disease. This case re-iterates the importance of clinical examination, especially in high myopes, given the current trend towards virtual clinics. 2015 BMJ Publishing Group Ltd.

  7. Diabetic Macular Edema Pathophysiology: Vasogenic versus Inflammatory

    Directory of Open Access Journals (Sweden)

    Pedro Romero-Aroca

    2016-01-01

    Full Text Available Diabetic macular edema (DME can cause blindness in diabetic patients suffering from diabetic retinopathy (DR. DM parameters controls (glycemia, arterial tension, and lipids are the gold standard for preventing DR and DME. Although the vascular endothelial growth factor (VEGF is known to play a role in the development of DME, the pathological processes leading to the onset of this disease are highly complex and the exact sequence in which they occur is still not completely understood. Angiogenesis and inflammation have been shown to be involved in the pathogenesis of this disease. However, it still remains to be clarified whether angiogenesis following VEGF overexpression is a cause or a consequence of inflammation. This paper provides a review of the data currently available, focusing on VEGF, angiogenesis, and inflammation. Our analysis suggests that angiogenesis and inflammation act interdependently during the development of DME. Knowledge of DME etiology seems to be important in treatments with anti-VEGF or anti-inflammatory drugs. Current diagnostic techniques do not permit us to differentiate between both etiologies. In the future, diagnosing the physiopathology of each patient with DME will help us to select the most effective drug.

  8. Animal models of age related macular degeneration

    Science.gov (United States)

    Pennesi, Mark E.; Neuringer, Martha; Courtney, Robert J.

    2013-01-01

    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 histological features of AMD and provided much insight into the underlying pathological mechanisms of this disease. In spite of the large number of models developed, no one model yet recapitulates all of the features of human AMD. However, these models have helped reveal the roles of chronic oxidative damage, inflammation and immune dysregulation, and lipid metabolism in the development of AMD. Models for induced choroidal neovascularization have served as the backbone for testing new therapies. This article will review the diversity of animal models that exist for AMD as well as their strengths and limitations. PMID:22705444

  9. Relationship between macular pigment and visual function in subjects with early age-related macular degeneration.

    Science.gov (United States)

    Akuffo, Kwadwo Owusu; Nolan, John M; Peto, Tunde; Stack, Jim; Leung, Irene; Corcoran, Laura; Beatty, Stephen

    2017-02-01

    To investigate the relationship between macular pigment (MP) and visual function in subjects with early age-related macular degeneration (AMD). 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 disability (GD), photostress recovery time (PRT), reading performance and subjective visual function, using the National Eye Institute Visual Function Questionnaire-25 (NEI VFQ-25). MP was measured using customised heterochromatic flicker photometry. Letter CS, mesopic and photopic CS, photopic GD and mean reading speed were each significantly (p0.05, for all). MP relates positively to many measures of visual function in unsupplemented subjects with early AMD. The CREST trial will investigate whether enrichment of MP influences visual function among those afflicted with this condition. ISRCTN13894787. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  10. Relationship between macular pigment and visual function in subjects with early age-related macular degeneration

    Science.gov (United States)

    Nolan, John M; Peto, Tunde; Stack, Jim; Leung, Irene; Corcoran, Laura; Beatty, Stephen

    2017-01-01

    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 disability (GD), photostress recovery time (PRT), reading performance and subjective visual function, using the National Eye Institute Visual Function Questionnaire-25 (NEI VFQ-25). MP was measured using customised heterochromatic flicker photometry. Results Letter CS, mesopic and photopic CS, photopic GD and mean reading speed were each significantly (p0.05, for all). Conclusions MP relates positively to many measures of visual function in unsupplemented subjects with early AMD. The CREST trial will investigate whether enrichment of MP influences visual function among those afflicted with this condition. Trial registration number ISRCTN13894787. PMID:27091854

  11. Morphologic imaging in muscular dystrophies and inflammatory myopathies

    Energy Technology Data Exchange (ETDEWEB)

    Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick [CHU de Lille, Clinique neurologique, Lille (France); Morillon, David; Cotten, Anne [CHRU de Lille, Service de Radiologie Osteoarticulaire, Hopital Roger Salengro, Lille (France); Stojkovic, Tanya [G-H Pitie-Salpetriere, Institut de Myologie, Paris (France)

    2010-12-15

    To determine if magnetic resonance imaging (MR imaging) is useful in the diagnostic workup of muscular dystrophies and idiopathic inflammatory myopathies for describing the topography of muscle involvement. MR imaging was performed in 31 patients: 8 with dystrophic myotony types 1 (n = 4) or 2 (n = 4); 11 with limb-girdle muscular dystrophy, including dysferlinopathy, calpainopathy, sarcoglycanopathy, and dystrophy associated with fukutin-related protein mutation; 3 with Becker muscular dystrophy; and 9 with idiopathic inflammatory myopathies, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Analysis of T1 images enabled us to describe the most affected muscles and the muscles usually spared for each muscular disease. In particular, examination of pelvis, thigh, and leg muscles demonstrated significant differences between the muscular diseases. On STIR images, hyperintensities were present in 62% of our patients with muscular dystrophies. A specific pattern of muscular involvement was established for each muscular disease. Hyperintensities observed on STIR images precede fatty degeneration and are not specific for inflammatory myopathies. (orig.)

  12. Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

    Science.gov (United States)

    Cho, Diane H; Tapscott, Stephen J

    2007-02-01

    Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK (myotonic dystrophy protein kinase) on chromosome 19q13.3. Myotonic dystrophy type 2 (DM2) is caused by an unstable CCTG repeat in intron 1 of ZNF9 (zinc finger protein 9) on chromosome 3q21. Therefore, both DM1 and DM2 are caused by a repeat expansion in a region transcribed into RNA but not translated into protein. The discovery that these two distinct mutations cause largely similar clinical syndromes put emphasis on the molecular properties they have in common, namely, RNA transcripts containing expanded, non-translated repeats. The mutant RNA transcripts of DM1 and DM2 aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Whether the entire disease pathology of DM1 and DM2 is caused by interference in RNA processing remains to be seen. This review focuses on the molecular significance of the similarities and differences between DM1 and DM2 in understanding the disease pathology of myotonic dystrophy.

  13. MACULAR ATROPHY FINDINGS BY OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY COMPARED WITH FUNDUS AUTOFLUORESCENCE IN TREATED EXUDATIVE AGE-RELATED MACULAR DEGENERATION.

    Science.gov (United States)

    Takasago, Yukari; Shiragami, Chieko; Kobayashi, Mamoru; Osaka, Rie; Ono, Aoi; Yamashita, Ayana; Tsujikawa, Akitaka; Hirooka, Kazuyuki

    2017-11-28

    To compare the areas of choriocapillaris (CC) nonperfusion and macular atrophy (MA) in treated exudative age-related macular degeneration. This was a prospective, observational, cross-sectional study. Forty-four eyes exhibiting MA (42 patients with age-related macular degeneration), with a dry macula, underwent fundus autofluorescence and optical coherence tomography angiography. The area of MA detected by fundus autofluorescence and CC nonperfusion detected by optical coherence tomography angiography was measured using image analysis software. The rates of concordance between the MA and CC nonperfusion areas were calculated. We qualitatively and quantitatively compared the areas of MA and CC nonperfusion in age-related macular degeneration eyes. The mean areas of MA and CC nonperfusion were 5.95 ± 4.50 mm and 10.66 ± 7.05 mm, respectively (paired t-test, P age-related macular degeneration.This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

  14. EVALUATION OF SHORT-TERM OUTCOMES OF INTRAVITREAL AFLIBERCEPT INJECTIONS FOR AGE-RELATED MACULAR DEGENERATION USING FOCAL MACULAR ELECTRORETINOGRAPHY.

    Science.gov (United States)

    Takayama, Kei; Kaneko, Hiroki; Ueno, Shinji; Maruko, Ruka; Piao, Chang-Hua; Yasuda, Shunsuke; Kawano, Kenichi; Ito, Yasuki; Terasaki, Hiroko

    2017-03-01

    To evaluate the relationship between morphological changes and functional improvements assessed using focal macular electroretinograms after intravitreal aflibercept (IVA) injections in eyes with wet age-related macular degeneration. The clinical records of 42 eyes of 42 consecutive patients with naive, wet age-related macular degeneration received 3 monthly IVA were reviewed. The best-corrected visual acuity, central foveal thickness, outer retinal thickness, inner retinal thickness at baseline and 1 month after each IVA, and focal macular electroretinograms at baseline and 1 month after the first and third IVA were compared. Best-corrected visual acuity was improved after the third IVA (P = 0.0091). Central foveal thickness and outer retinal thickness showed decreases after every IVA (P macular electroretinograms, a- and b-wave amplitudes showed increases after the third IVA (P = 0.0028, P = 0.0012, respectively). Significant correlations were observed between best-corrected visual acuity and central foveal thickness, a-wave amplitude and outer retinal thickness, and b-wave amplitude and inner retinal thickness changes after the third IVA. All parameters significantly recovered after three monthly IVA, with a correlation between functional improvements and morphological changes.

  15. 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...... to 120 minutes of pure oxygen breathing. Methods. Eleven eyes of 11 patients with DME were examined at baseline and while breathing pure oxygen for 120 minutes followed by 120 minutes of breathing atmospheric air. Macular volume was determined by optical coherence tomography, retinal trunk vessel...... diameters by fundus photography, intraocular pressure by pulse-air tonometry, and arterial blood pressure by sphygmomanometry. Results. After initiation of pure oxygen breathing, reductions of 2.6% in RAD (p=0.04) and 11.5% reduction in RVD (p...

  16. Age-related macular degeneration: update for primary care.

    Science.gov (United States)

    Fong, D S

    2000-05-15

    Age-related macular degeneration is the leading cause of severe vision loss among the elderly. In this condition, central vision is lost, but peripheral vision almost always remains intact. Affected persons rarely require canes or guide dogs. The diagnosis of age-related macular degeneration is based on symptoms and ophthalmoscopic findings, and the disease can be classified into atrophic and exudative forms. The two currently proven treatments are laser photocoagulation and photodynamic therapy, but these measures are effective in only a small fraction of eyes with the exudative form of macular degeneration. Vision rehabilitation can help patients maximize their remaining vision and adapt so that they can perform activities of daily living. Families need encouragement in providing support and helping patients adjust to being partially sighted.

  17. Cystoid Macular Edema Induced by Low Doses of Nicotinic Acid

    Directory of Open Access Journals (Sweden)

    Daniela Domanico

    2013-01-01

    Full Text Available Cystoid macular edema (CME is a condition that involves the macula, causing painless vision loss. In this paper, we report a case of niacin-induced bilateral cystoid macular edema (CME in a middle-age woman taking low dose of niacin (18 mg of nicotinic acid. Optical coherence tomography (OCT showed retinal thickening and cystoid spaces in both eyes, whereas fluorescein angiography (FA; HRA 2, Heidelberg Engineering revealed the absence of fluorescein leakage also in later phases. Four weeks after discontinuation of therapy there were a complete disappearance of macular edema at funduscopic examination and an improvement of visual acuity in both eyes. Furthermore OCT showed a normal retinal profile in both eyes. In our opinion considering the wide availability of niacin, medical monitoring and periodical examination should be considered during niacin administration. To our knowledge, this is the first report in the literature that described the very low-dose niacin-induced bilateral niacin maculopathy.

  18. Radiation treatment for age-related macular degeneration

    Energy Technology Data Exchange (ETDEWEB)

    Taniguchi, Tomoko; Mandai, Michiko; Honjo, Megumi; Matsuda, Naoko; Miyamoto, Hideki; Takahashi, Masayo; Ogura, Yuichiro; Sasai, Keisuke [Kyoto Univ. (Japan). Faculty of Medicine

    1996-11-01

    Fifteen eyes of age-related macular degeneration were treated by low-dose radiation. All the affected eyes had subfoveal neovascular membrane. Seventeen nontreated eyes with similar macular lesion served as control. Radiation was performed using photon beam at 6MV. Each eye received daily dose of 2 Gy for 5 consecutive days. When evaluated 9 to 12 months after treatment, the size of neovascular membrane had decreased in 47% of treated eyes and 7% of control eyes. The visual acuity improved by 2 lines or more in 13% of treated eyes and in none of control eyes. When the initial neovascular membrane was less than 1.5 disc diameter in size, the visual acuity had improved or remained stationary in 90% of treated eyes and in 36% of control eyes. The findings show the potential beneficial effect of radiation for age-related macular degeneration. (author)

  19. Dexamethasone Intravitreal Implant for Diabetic Macular Edema During Pregnancy

    DEFF Research Database (Denmark)

    Concillado, Michael; Lund-Andersen, Henrik; Mathiesen, Elisabeth R

    2016-01-01

    PURPOSE: To describe the management of diabetic macular edema during pregnancy with the use of a dexamethasone slow-release intravitreal implant. DESIGN: Retrospective, observational, consecutive case series. METHODS: The study included 5 pregnant women who presented with diabetic macular edema...... injection. RESULTS: Diabetic macular edema involving the foveal center was observed between gestational weeks 9 and 23 in 10 eyes of 5 patients. Dexamethasone intravitreal implant injection was given 10 times in 9 eyes with a mean preinjection center field retinal thickness of 535 μm (range, 239-727 μm......) and a mean preinjection best-corrected visual acuity (BCVA) of 63 approximated Early Treatment Diabetic Retinopathy Study (approxETDRS) letters (range, 50-77 letters). One eye was unavailable for follow-up. In 7 of 8 eyes injection was followed, within 3 weeks, by a greater than 145 μm reduction in foveal...

  20. Visual Acuity, and Macular and Peripapillary Thickness in High Myopia.

    Science.gov (United States)

    Abdolrahimzadeh, Solmaz; Parisi, Francesco; Plateroti, Andrea Maria; Evangelista, Federica; Fenicia, Vito; Scuderi, Gianluca; Recupero, Santi Maria

    2017-11-01

    To investigate best corrected visual acuity (BCVA), and choroidal and retinal thickness values between high myopes without myopic maculopathy and emmetropes. Case control study where 53 myopes with axial length (AL) above 26 mm without myopic maculopathy and 53 age-matched emmetropes with AL between 21.50 and 24.50 were included as controls. Complete ophthalmological examination and biometry were performed. Choroidal and individual retinal layer thickness maps using spectral domain optical coherence tomography were obtained in the macular and peripapillary area with enhanced depth imaging. Peripapillary retinal nerve fiber layer (pRNFL) thickness was obtained using the circular 12°diameter scan. Mean age was 31.9 ± 9.9 and 32.5 ± 9.3 years in the myopes and controls, respectively (p > 0.05). Mean BCVA was 55.32 ± 2.50 versus 57.04 ± 2.27 ETDRS letters, in the myopes and controls, respectively (p = 0.0004). AL was the principal predictive factor for macular and peripapillary CT in myopes and macular CT in controls. BCVA was not influenced by choroidal thickness (CT). BCVA positively correlated with global pRNFL, following correction for age and AL, in both groups (r = 0.38, p = 0.008 and r = 0.38, p = 0.007 in the myopic and control groups, respectively). Statistical analysis following correction for the potential confounding factors of age, gender, AL, gender, AL, macular CT, and peripapillary CT, showed no significant differences in macular and peripapillary thicknesses between the two groups. AL is the principal predictive factor for macular and peripapillary CT in high myopes without maculopathy, and CT is not an independent predictor of visual acuity. Global pRNFL thickness is the only independent predictive factor of BCVA.

  1. Spontaneous resolution of macular edema after silicone oil removal

    Directory of Open Access Journals (Sweden)

    Eyyup Karahan

    2014-12-01

    Full Text Available AIM:To investigate the macular changes in eyes filled with silicone oil (SO and course of these changes after SO removal.METHODS:A retrospective optical coherence tomography scan review was conducted for twenty-four patients who underwent uncomplicated pars plana vitrectomy with SO tamponade for complex retinal detachments were detected with optical coherence tomography before, and one week, one month and three months after SO removal.RESULTS:Mean duration of SO tamponade was 3.6±1.0mo (range:3-7mo. Cystoid macular edema (CME was detected in 3 eyes before SO removal. Submacular fluid was represented in 1 eye before silicone SO removal. Resolution of CME and submacular fluid was achieved 1mo after SO removal in all eyes. Mean best corrected visual acuity (BCVA was 1.15±0.65 (range, hand movement to 0.2 before SO removal in the eyes without macular changes. After SO removal, the mean BCVA values at 1wk and 1 and 3mo, and 0.82±0.23, 0.76±0.21, and 0.70±0.19, all of which were significantly better than baseline (P=0.030, 0.017, 0.006 respectively. In the eyes with macular CME and subretinal fluid the mean BCVA was significantly improved at 3mo after SO removal compared with baseline (P=0.037.CONCLUSION:Decreased visual acuity in eyes filled with SO could be caused by macular complications due to SO. CME and subretinal fluid may resolve without any additional macular surgery after SO removal.

  2. Surgical outcomes of inverted internal limiting membrane flap technique for large macular hole

    Directory of Open Access Journals (Sweden)

    Prabhushanker Mahalingam

    2013-01-01

    Full Text Available We are presenting the initial results of inverted internal limiting membrane (ILM flap technique for large macular hole. Five eyes of five patients with large diameter macular hole (>700 μm were selected. All patients underwent inverted ILM flap technique for macular hole. Anatomical closure and functional success were achieved in all patients. There was no loss of best-corrected visual acuity in any of the patients. Inverted ILM flap technique in macular hole surgery seems to have a better hole closure rates, especially in large diameter macular holes. Larger case series is required to assess the efficacy and safety of this technique.

  3. Reflex sympathetic dystrophy: changing concepts and taxonomy.

    Science.gov (United States)

    Stanton-Hicks, M; Jänig, W; Hassenbusch, S; Haddox, J D; Boas, R; Wilson, P

    1995-10-01

    We present a revised taxonomic system for disorders previously called reflex sympathetic dystrophy (RSD) and causalgia. The system resulted from a special consensus conference that was convened on this topic and is based upon the patient's history, presenting symptoms, and findings at the time of diagnosis. The disorders are grouped under the umbrella term CRPS: complex regional pain syndrome. This overall term, CRPS, requires the presence of regional pain and sensory changes following a noxious event. Further, the pain is associated with findings such as abnormal skin color, temperature change, abnormal sudomotor activity, or edema. The combination of these findings exceeds their expected magnitude in response to known physical damage during and following the inciting event. Two types of CRPS have been recognized: type I, corresponds to RSD and occurs without a definable nerve lesion, and type II, formerly called causalgia refers to cases where a definable nerve lesion is present. The term sympathetically maintained pain (SMP) was also evaluated and considered to be a variable phenomenon associated with a variety of disorders, including CRPS types I and II. These revised categories have been included in the 2nd edition of the IASP Classification of Chronic Pain Syndromes.

  4. Gene Therapy for Duchenne muscular dystrophy

    Science.gov (United States)

    Ramos, Julian; Chamberlain, Jeffrey S

    2015-01-01

    Introduction Duchenne muscular dystrophy (DMD) is a relatively common inherited disorder caused by defective expression of the protein dystrophin. The most direct approach to treating this disease would be to restore dystrophin production in muscle. Recent progress has greatly increased the prospects for successful gene therapy of DMD, and here we summarize the most promising developments. Areas Covered Gene transfer using vectors derived from adeno-associated virus (AAV) has emerged as a promising method to restore dystrophin production in muscles bodywide, and represents a treatment option applicable to all DMD patients. Using information gleaned from PubMed searches of the literature, attendance at scientific conferences and results from our own lab, we provide an overview of the potential for gene therapy of DMD using AAV vectors including a summary of promising developments and issues that need to be resolved prior to large-scale therapeutic implementation. Expert Opinion Of the many approaches being pursued to treat DMD and BMD, gene therapy based on AAV-mediated delivery of microdystrophin is the most direct and promising method to treat the cause of the disorder. The major challenges to this approach are ensuring that microdystrophin can be delivered safely and efficiently without eliciting an immune response. PMID:26594599

  5. Nutritional Challenges in Duchenne Muscular Dystrophy.

    Science.gov (United States)

    Salera, Simona; Menni, Francesca; Moggio, Maurizio; Guez, Sophie; Sciacco, Monica; Esposito, Susanna

    2017-06-10

    Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there are several nutritional aspects that are important to consider, including the deleterious effects of overnutrition on glucose metabolism, mobility, and respiratory and cardiologic functions; the impact of hyponutrition on muscle and ventilatory function; constipation and other gastrointestinal complications; chewing/swallowing difficulties with an increased risk of aspiration that predisposes to infectious diseases and respiratory complications; as well as osteoporosis with an associated increased risk of fractures. The aim of this review is to provide a comprehensive analysis of the nutritional aspects and complications that can start in children with Duchenne muscular dystrophy (DMD) and increase with ageing. These aspects should be considered in the transition from paediatric clinics to adult services. It is shown that appropriate nutritional care can help to improve the quality of life of DMD patients, and a multidisciplinary team is needed to support nutrition challenges in DMD patients. However, studies on the prevalence of overnutrition and undernutrition, gastrointestinal complications, infectious diseases, dysphagia, and reduced bone mass in the different types of NMDs are needed, and appropriate percentiles of weight, height, body mass index, and body composition appear to be extremely important to improve the management of patients with NMD.

  6. Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy

    Directory of Open Access Journals (Sweden)

    Lanza François

    2006-11-01

    Full Text Available Abstract Bernard-Soulier syndrome (BSS, also known as Hemorrhagiparous thrombocytic dystrophy, is a hereditary bleeding disorder affecting the megakaryocyte/platelet lineage and characterized by bleeding tendency, giant blood platelets and low platelet counts. This syndrome is extremely rare as only ~100 cases have been reported in the literature. Clinical manifestations usually include purpura, epistaxis, menorrhagia, gingival and gastrointestinal bleeding. The syndrome is transmitted as an autosomal recessive trait. The underlying defect is a deficiency or dysfunction of the glycoprotein GPIb-V-IX complex, a platelet-restricted multisubunit receptor required for normal primary hemostasis. The GPIb-V-IX complex binds von Willebrand factor, allowing platelet adhesion and platelet plug formation at sites of vascular injury. Genes coding for the four subunits of the receptor, GPIBA, GPIBB, GP5 and GP9, map to chromosomes 17p12, 22q11.2, 3q29, and 3q21, respectively. Defects have been identified in GPIBA, GPIBB, and GP9 but not in GP5. Diagnosis is based on a prolonged skin bleeding time, the presence of a small number of very large platelets (macrothrombocytopenia, defective ristocetin-induced platelet agglutination and low or absent expression of the GPIb-V-IX complex. Prothrombin consumption is markedly reduced. The prognosis is usually good with adequate supportive care but severe bleeding episodes can occur with menses, trauma and surgical procedures. Treatment of bleeding or prophylaxis during surgical procedures usually requires platelet transfusion.

  7. Optimizing Bone Health in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Jason L. Buckner

    2015-01-01

    Full Text Available Duchenne muscular dystrophy (DMD is an X-linked recessive disorder characterized by progressive muscle weakness, with eventual loss of ambulation and premature death. The approved therapy with corticosteroids improves muscle strength, prolongs ambulation, and maintains pulmonary function. However, the osteoporotic impact of chronic corticosteroid use further impairs the underlying reduced bone mass seen in DMD, leading to increased fragility fractures of long bones and vertebrae. These serious sequelae adversely affect quality of life and can impact survival. The current clinical issues relating to bone health and bone health screening methods in DMD are presented in this review. Diagnostic studies, including biochemical markers of bone turnover and bone mineral density by dual energy X-ray absorptiometry (DXA, as well as spinal imaging using densitometric lateral spinal imaging, and treatment to optimize bone health in patients with DMD are discussed. Treatment with bisphosphonates offers a method to increase bone mass in these children; oral and intravenous bisphosphonates have been used successfully although treatment is typically reserved for children with fractures and/or bone pain with low bone mass by DXA.

  8. Nutritional Challenges in Duchenne Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Simona Salera

    2017-06-01

    Full Text Available Neuromuscular diseases (NMDs represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. With the prolongation of survival in patients with NMDs, there are several nutritional aspects that are important to consider, including the deleterious effects of overnutrition on glucose metabolism, mobility, and respiratory and cardiologic functions; the impact of hyponutrition on muscle and ventilatory function; constipation and other gastrointestinal complications; chewing/swallowing difficulties with an increased risk of aspiration that predisposes to infectious diseases and respiratory complications; as well as osteoporosis with an associated increased risk of fractures. The aim of this review is to provide a comprehensive analysis of the nutritional aspects and complications that can start in children with Duchenne muscular dystrophy (DMD and increase with ageing. These aspects should be considered in the transition from paediatric clinics to adult services. It is shown that appropriate nutritional care can help to improve the quality of life of DMD patients, and a multidisciplinary team is needed to support nutrition challenges in DMD patients. However, studies on the prevalence of overnutrition and undernutrition, gastrointestinal complications, infectious diseases, dysphagia, and reduced bone mass in the different types of NMDs are needed, and appropriate percentiles of weight, height, body mass index, and body composition appear to be extremely important to improve the management of patients with NMD.

  9. Falls and stumbles in myotonic dystrophy.

    Science.gov (United States)

    Wiles, C M; Busse, M E; Sampson, C M; Rogers, M T; Fenton-May, J; van Deursen, R

    2006-03-01

    To investigate falls and risk factors in patients with myotonic dystrophy type 1 (DM1) compared with healthy volunteers. 13 sequential patients with DM1 from different kindreds were compared with 12 healthy volunteers. All subjects were evaluated using the Rivermead Mobility Index, Performance Oriented Mobility Assessment, and modified Activities Specific Balance Confidence scale. Measures of lower limb muscle strength, gait speed, and 7-day ambulatory activity monitoring were recorded. Subjects returned a weekly card detailing stumbles and falls. 11 of 13 patients (mean age 46.5 years, seven female) had 127 stumbles and 34 falls over the 13 weeks, compared with 10 of 12 healthy subjects (34.4 years, seven female) who had 26 stumbles and three falls. Patients were less active than healthy subjects but had more falls and stumbles per 5000 right steps taken (mean (SD) events, 0.21 (0.29) v 0.02 (0.02), p = 0.007). Patients who fell (n = 6) had on average a lower Rivermead Mobility score, slower self selected gait speed, and higher depression scores than those who did not. DM1 patients stumble or fall about 10 times more often than healthy volunteers. Routine inquiry about falls and stumbles is justified. A study of multidisciplinary intervention to reduce the risk of falls seems warranted.

  10. Restrictive lung involvement in facioscapulohumeral muscular dystrophy.

    Science.gov (United States)

    Scully, Michele A; Eichinger, Katy J; Donlin-Smith, Colleen M; Tawil, Rabi; Statland, Jeffery M

    2014-11-01

    Few studies have evaluated the frequency or predisposing factors for respiratory involvement in facioscapulohumeral muscular dystrophy type 1 (FSHD1) and type 2 (FSHD2). We performed a prospective cross-sectional observational study of 61 genetically confirmed FSHD participants (53 FSHD1 and 8 FSHD2). Participants underwent bedside pulmonary function testing in sitting and supine positions, a standard clinical history and physical assessment, and manual muscle testing. Restrictive respiratory involvement was suggested in 9.8% (95% confidence interval 2.4-17.3): 7.5% FSHD1 and 25.0% FSHD2 (P = 0.17). Participants with testing suggestive of restrictive lung involvement (n = 6) were more severely affected (P = 0.005), had weaker hip flexion (P = 0.0007), and were more likely to use a wheelchair (P = 0.01). Restrictive respiratory involvement should be considered in all moderate to severely affected FSHD patients with proximal lower extremity weakness. The higher frequency of restrictive lung disease in FSHD2 seen here requires confirmation in a larger cohort of FSHD2 patients. © Published 2014 by Wiley Periodicals, Inc.

  11. Recent aspects on physiopathology of diabetic macular edema

    OpenAIRE

    Mário Martins dos Santos Motta; Jacqueline Coblentz; Laura Gomes Nunes de Melo

    2008-01-01

    O edema macular é a principal causa de baixa visual em pacientes diabéticos. Seu mecanismo de formação é complexo e envolve alterações bioquímicas e estruturais. Os autores fazem uma revisão e atualização dos conceitos fisiopatológicos envolvidos na maculopatia diabética.Macular edema is the leading cause of poor vision in diabetic patients.The mechanism of edema formation is complex and involves biochemical and structural changes. The authors review and update the physiopathologic concepts r...

  12. Unusual macular thickness in Alport syndrome: case report

    Directory of Open Access Journals (Sweden)

    Thais Z. Igami

    2012-08-01

    Full Text Available This case report describes the presence of bilateral macular atrophy in a patient with Alport syndrome and compares this finding with literature. At fundoscopy, there was a discrete circumscribed macular thinning showing intense retinal pigment epithelium color and the presence of whitish circular retinal lesions ("dots" and "flecks" at nasal mid periphery of both eyes. Optical coherence tomography showed bilateral partial atrophy of the neurosensory retina in the macula, with a greater extent in the temporal region. This case describes a rare ophthalmological finding in Alport syndrome and important to be recognized for a precise diagnosis as well as for determining visual prognosis.

  13. Topical Nonsteroidal Anti-Inflammatory Drugs for Macular Edema

    Directory of Open Access Journals (Sweden)

    Andrea Russo

    2013-01-01

    Full Text Available Nonsteroidal anti-inflammatory drugs (NSAIDs are nowadays widely used in ophthalmology to reduce eye inflammation, pain, and cystoid macular edema associated with cataract surgery. Recently, new topical NSAIDs have been approved for topical ophthalmic use, allowing for greater drug penetration into the vitreous. Hence, new therapeutic effects can be achieved, such as reduction of exudation secondary to age-related macular degeneration or diabetic maculopathy. We provide an updated review on the clinical use of NSAIDs for retinal diseases, with a focus on the potential future applications.

  14. Bilateral Serous Macular Detachment in Acute Myelogenous Leukemia

    Directory of Open Access Journals (Sweden)

    Müge Karataş

    2014-03-01

    Full Text Available A 31-year-old woman, diagnosed and treated for acute myelogenous leukemia (AML type M2, complained of blurred vision and general deterioration in vital signs in her fourth week of hospitalization for induction chemotherapy. Her ophthalmologic examination revealed bilateral serous macular detachment. Despite immediate institution of salvage therapy for refractory disease, extensive intraretinal and preretinal hemorrhages developed in both eyes. Three weeks after reinstitution of chemotherapy, the patient deceased. Bilateral serous macular detachment is rarely an ocular manifestation of AML. This may be a sign of leukemic infiltration of the choroid and worsening of the clinical symptoms. (Turk J Ophthalmol 2014; 44: 151-3

  15. Terson Syndrome Associated With Acute Macular Neuropathy Type 2.

    Science.gov (United States)

    Vujosevic, Stela; Testi, Ilaria; Nacci, Elisabetta; Midena, Edoardo

    2017-09-01

    Terson syndrome is defined as the incidence of intraocular hemorrhage in patients following a subarachnoid or intracranial bleed. A 38-year-old female with both intraretinal and subretinal hemorrhages secondary to Terson syndrome underwent repair of a ruptured cerebral aneurysm. One month following resolution of the macular hemorrhages, a paracentral scotoma persisted. Multimodal imaging (morphological and functional) confirmed the presence of acute macular neuroretinopathy Type 2 associated with deep retinal capillary ischemia. Optical coherence tomography angiography illustrated the selective involvement of the deep retinal capillary plexus. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:764-767.]. Copyright 2017, SLACK Incorporated.

  16. Unusual presentation of generalized macular amyloidosis in a young adult

    Directory of Open Access Journals (Sweden)

    Kudur Mohan

    2008-01-01

    Full Text Available Macular amyloidosis is a common problem seen dermatology out-patient department. Generalized macular amyloidosis presenting with a poikilodermatous appearance is rare. In our case, an 18-year-old male presented with generalized hypopigmented macules with a poikilodermatous appearance of 10-year duration. His developmental milestones were normal with negative family history of similar complaints. Histopathology of hyperpigmented lesions revealed hyperkeratosis and acanthosis of epidermis and hypopigmented lesion showing only hyperkeratosis. Both lesions were showing the deposition of amorphous, hazy material in the tips of papillary dermis with perivascular inflammatory infiltrate. Congo red staining of the amorphous material was positive for amyloid.

  17. A case of infantile neuroaxonal dystrophy of neonatal onset.

    Science.gov (United States)

    Fusco, Carlo; Frattini, Daniele; Panteghini, Celeste; Pascarella, Rosario; Garavaglia, Barbara

    2015-03-01

    Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first or second year of life. Mutations in the PLA2G6 gene encoding iPLA2-VI, a calcium-independent phospholipase, have been identified in these children. In classic infantile neuroaxonal dystrophy-affected children, psychomotor regression is the most frequent presentation, usually with ataxia and optic atrophy, followed by the development of tetraparesis. We report a child carrying a homozygous mutation in the PLA2G6 gene with neonatal onset of disease and somewhat different clinical phenotype such as severe congenital hypotonia, marked weakness, and bulbar signs suggesting that infantile neuroaxonal dystrophy can start at birth with atypical phenotype. © The Author(s) 2014.

  18. Myotonic dystrophy in two European grey wolves (Canis lupus).

    Science.gov (United States)

    Pákozdy, A; Leschnik, M; Nell, B; Kolm, U S; Virányi, Z; Belényi, B; Molnár, M J; Bilzer, T

    2007-03-01

    Two related European Grey wolves (Canis lupus) with the history of muscle stiffness beginning at 2 weeks of age were examined in this study. Muscle tone and muscle mass were increased in both animals. Muscle stiffness was worsened by stress so that the animals fell into lateral recumbency. Blood chemistry revealed mildly increased serum creatine kinase activity. Abnormal potentials typical of myotonic discharges were recorded by electromyography. Cataract, first-degree atrioventricular (AV) block and inhomogeneous myocardial texture by ultrasound suggested extramuscular involvement. Myopathology demonstrated dystrophic signs in the muscle biopsy specimen. The presumptive diagnosis based on the in vivo findings was myotonic dystrophy. Immunochemistry of the striated muscles revealed focal absence of dystrophin 1 and beta-dystroglycan in both cases. Cardiac and ophthalmologic involvement suggested a disorder very similar to a human form of myotonic dystrophy. This is the first description of myotonic dystrophy in wolves.

  19. [Posterior polymorphous dystrophy, case report and literature review].

    Science.gov (United States)

    Mendoza-Adam, G; Hernandez-Camarena, J C; Valdez-García, J E

    2015-09-01

    Posterior Polymorphous Dystrophy (DPP) is a rare posterior corneal dystrophy that is genetically transmitted as autosomal dominant. Corneal structures affected in this dystrophy are Descemet membrane and the endothelium. A case is presented on a 47 years old woman with no relevant history, with typical findings of DPP (vesicular and band lesions at the endothelium and posterior Descemet). To our knowledge there are no reported cases of DPP in Latin-American patients in the literature. The clinical manifestations in our patient were found to be very similar to the cases reported in other populations. Copyright © 2014 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  20. Perspectives of stem cell therapy in Duchenne muscular dystrophy.

    Science.gov (United States)

    Meregalli, Mirella; Farini, Andrea; Belicchi, Marzia; Parolini, Daniele; Cassinelli, Letizia; Razini, Paola; Sitzia, Clementina; Torrente, Yvan

    2013-09-01

    Muscular dystrophies are heritable and heterogeneous neuromuscular disorders characterized by the primary wasting of skeletal muscle, usually caused by mutations in the proteins forming the link between the cytoskeleton and the basal lamina. As a result of mutations in the dystrophin gene, Duchenne muscular dystrophy patients suffer from progressive muscle atrophy and an exhaustion of muscular regenerative capacity. No efficient therapies are available. The evidence that adult stem cells were capable of participating in the regeneration of more than their resident organ led to the development of potential stem cell treatments for degenerative disorder. In the present review, we describe the different types of myogenic stem cells and their possible use for the progression of cell therapy in Duchenne muscular dystrophy. © 2012 The Authors Journal compilation © 2012 FEBS.

  1. Incomplete cortical reorganization in macular degeneration.

    Science.gov (United States)

    Liu, Tingting; Cheung, Sing-Hang; Schuchard, Ronald A; Glielmi, Christopher B; Hu, Xiaoping; He, Sheng; Legge, Gordon E

    2010-12-01

    Activity in regions of the visual cortex corresponding to central scotomas in subjects with macular degeneration (MD) is considered evidence for functional reorganization in the brain. Three unresolved issues related to cortical activity in subjects with MD were addressed: Is the cortical response to stimuli presented to the preferred retinal locus (PRL) different from other retinal loci at the same eccentricity? What effect does the role of age of onset and etiology of MD have on cortical responses? How do functional responses in an MD subject's visual cortex vary for task and stimulus conditions? Eight MD subjects-four with age-related onset (AMD) and four with juvenile onset (JMD)-and two age-matched normal vision controls, participated in three testing conditions while undergoing functional magnetic resonance imaging (fMRI). First, subjects viewed a small stimulus presented at the PRL compared with a non-PRL control location to investigate the role of the PRL. Second, they viewed a full-field flickering checkerboard compared with a small stimulus in the original fovea to investigate brain activation with passive viewing. Third, they performed a one-back task with scene images to investigate brain activation with active viewing. A small stimulus at the PRL generated more extensive cortical activation than at a non-PRL location, but neither yielded activation in the foveal cortical projection. Both passive and active viewing of full-field stimuli left a silent zone at the posterior pole of the occipital cortex, implying a lack of complete cortical reorganization. The silent zone was smaller in the task requiring active viewing compared with the task requiring passive viewing, especially in JMD subjects. The PRL for MD subjects has more extensive cortical representation than a retinal region with matched eccentricity. There is evidence for incomplete functional reorganization of early visual cortex in both JMD and AMD. Functional reorganization is more prominent

  2. [Disturbances of binocular vision in macular heterotopia].

    Science.gov (United States)

    Schroeder, B; Krzizok, T; Kaufmann, H; Kroll, P

    1999-08-01

    Tractive translocation of the macula (secondary macular heterotopia) may result in disturbance of binocular vision. The report of a case shall discuss the sensorial problems of these patients. We report of a 40-years old male who had decreased visual acuity and loss of binocular vision for several years due to episodes of uveitis with intravitreous hemorrhage and cataract formation. After bilateral vitrectomy and cataract extraction a good visual acuity was restored in both eyes. Postoperatively, the patient monocularly complained about disturbed egocentric localization (tilting of the visual environment, "past-pointing") and metamorphopsia. Binocularly he was confused by doubled vision with tilted images. Both maculae showed a tractive translocation of 15 degrees downward. Measurements of binocular alignment with the tangent screen showed an excyclotropia of 8 degrees and an exotropia of 7 degrees in all directions of gaze. Haploscopic examination with fusion images demonstrated that sensorial fusion was not possible even with perfect ocular alignment due to disturbed relative retinal localization (obligate fixation disparity). Initially, full time occlusion of the left eye was required. After improvement of symptoms occlusion therapy was slowly tapered. Within one year the patient had learned to suppress the image of his left eye and reported only minor residual visual disturbances even without occlusion of his left eye. Secondary translocation of the macula monocularly results in a disturbance of egocentric localization and in metamorphopsia. Binocularly doubled vision with tilted images and a loss of sensorial fusion are seen. With monocular vision, perceptual adapting to the aberration in egocentric localisation is possible within weeks by reallocation of the retinal meridians in the central nervous system. Binocular improvement of symptoms is limited to the learning of suppression. Improvement of binocular symptoms by adaptation of retinal correspondence does

  3. Treatment of macular degeneration, according to Bangerter.

    Science.gov (United States)

    Teichmann, K D

    1997-10-30

    Age-related macular degeneration (AMD) is a common cause of visual loss among elderly patients. Although some risk factors have been determined, the ultimate cause of the disease is not known. For a long time, therapeutic nihilism has been the rule among ophthalmologists confronted with such patients. Bangerter has not shared this attitude, especially since the time that he incidentally discovered, more than 40 years ago, the beneficial effects of radiotherapy, in discouraging the growth of new vessels at the posterior pole of the eye. A variety of approaches are combined and used by Bangerter in the treatment of the different types of AMD, including retrobulbar injections of either vasodilating medications (in the dry - or atrophic - type) or corticosteroids (in the wet - or exudative - type), general medical measures aimed at improving metabolic and vascular functions such as supplementation with trace elements, antioxidants, and vitamins; ozone therapy; advice to increase physical fitness, improve nutrition, and abstain from smoking; and protection from excessive light exposure. Being convinced of the usefulness of his type of combination treatment, he has always rejected undertaking controlled clinical trials, of only single aspects of the therapy, as unethical and invalid. For this reason, scientific journals have not proven cooperative in several attempts at publishing his results, as collected in retrospective surveys. Recently, however, some of the several approaches combined by Bangerter in treating AMD have been pronounced effective by other investigators. We present here an overview of his treatment approaches, as few people are aware of them, to clear up misconceptions and to set records straight.

  4. Volcano like pattern in optical coherence tomography in chronic diabetic macular edema.

    Science.gov (United States)

    Pai, Sivakami A; Hussain, Nazimul; Hebri, Sudhira P; Lootah, Afra M; Dekhain, Moza A

    2014-04-01

    In this article we herein report an interesting vitreo-macular interface abnormality associated with chronic diabetic cystoid macular edema. It is an observational case study of three diabetic patients examined in the diabetic clinic. All the patients had proliferative diabetic retinopathy with chronic macular edema. A serial cross sectional OCT examination and tracking of both the longitudinal progression of macular thickening and vitreo-macular interface revealed cystoid macular edema with a characteristic hyperreflective vitreous shadow emerging from the vitreofoveal interface. All the patients had dehiscence of inner retinal layers. This particular morphological feature at the vitreo-foveolar interface, which we name as "volcano sign", has not been described earlier. The probable mechanism of such a finding probably could be due to slow progressive leakage of chronic cytoid fluid into the vitreous with condensation of the overlying vitreous. Vitreo-macular traction followed by posterior vitreous detachment probably would have contributed to such a morphological event.

  5. A Novel Episcleral Macular Buckling: Wire-Strengthened Sponge Exoplant for Recurrent Macular Hole and Retinal Detachment in High Myopic Eyes

    OpenAIRE

    Mortada, Hassan A.

    2013-01-01

    The purpose would be to describe and evaluate a novel technique of episcleral macular buckling in postvitrectomy recurrent macular hole retinal detachment in highly myopic eyes. A 7mm silicone sponge strengthened with a U-shaped 0.5mm orthodontics stainless steel wire fed along its length and hand-bent to produce L-shaped buckle of appropriate shape and length, is used. The episcleral macular buckling has performed on 15 highly myopic eyes (axial length > 30mm) with recurrent macular hole ret...

  6. Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy

    DEFF Research Database (Denmark)

    Hauerslev, S; Ørngreen, M C; Hertz, J M

    2013-01-01

    The aim of this study was to investigate whether inflammation and regeneration are prominent in mildly affected muscles of patients with facioscapulohumeral muscular dystrophy type 1A (FSHD1A). Inflammation in muscle has been suggested by MRI studies in patients with FSHD1A.......The aim of this study was to investigate whether inflammation and regeneration are prominent in mildly affected muscles of patients with facioscapulohumeral muscular dystrophy type 1A (FSHD1A). Inflammation in muscle has been suggested by MRI studies in patients with FSHD1A....

  7. Aspectos atuais na fisiopatologia do edema macular diabético Recent aspects on physiopathology of diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Mário Martins dos Santos Motta

    2008-02-01

    Full Text Available O edema macular é a principal causa de baixa visual em pacientes diabéticos. Seu mecanismo de formação é complexo e envolve alterações bioquímicas e estruturais. Os autores fazem uma revisão e atualização dos conceitos fisiopatológicos envolvidos na maculopatia diabética.Macular edema is the leading cause of poor vision in diabetic patients.The mechanism of edema formation is complex and involves biochemical and structural changes. The authors review and update the physiopathologic concepts related to diabetic maculopathy.

  8. Macular laser photocoagulation guided by spectral-domain optical coherence tomography versus fluorescein angiography for diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Gallego-Pinazo R

    2011-05-01

    Full Text Available Roberto Gallego-Pinazo1,2, Ana Marina Suelves-Cogollos1, Rosa Dolz-Marco1, J Fernando Arevalo3, Salvador García-Delpech1, J Luis Mullor4, Manuel Díaz-Llopis1,2,51Department of Ophthalmology, Hospital Universitario La Fe, Valencia, Spain; 2Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain; 3Retina and Vitreous Service, Clinical Ophthalmology Center, Caracas, Venezuela; 4Unit of Experimental Ophthalmology, Hospital Universitario La Fe, Valencia, Spain; 5University of Valencia, Faculty of Medicine, Valencia, SpainBackground: The aim of this study was to compare the efficacy of spectral-domain optical coherence tomography (SD-OCT and fluorescein angiography (FA in the guidance of macular laser photocoagulation for diabetic macular edema.Methods: This was a prospective interventional clinical comparative pilot study. Forty eyes from 24 consecutive patients with diabetic macular edema were allocated to receive laser photocoagulation guided by SD-OCT or FA. Best-corrected visual acuity (BCVA, central macular thickness, and retinal volume were assessed at baseline and two months after treatment.Results: Subjects treated using FA-guided laser improved BCVA from the logarithm of the minimum angle of resolution (logMAR 0.52 ± 0.2 to 0.37 ± 0.2 (P < 0.001, and decreased mean central macular thickness from 397.25 ± 139.1 to 333.50 ± 105.7 µm (P < 0.001 and retinal volume from 12.61 ± 1.6 to 10.94 ± 1.4 mm3 (P < 0.001. Subjects treated using SD-OCT guided laser had improved BCVA from 0.48 ± 0.2 to 0.33 ± 0.2 logMAR (P < 0.001, and decreased mean central macular thickness from 425.90 ± 149.6 to 353.4 ± 140 µm (P < 0.001 and retinal volume from 12.38 ± 2.1 to 11.53 ± 1.1 mm3 (P < 0.001. No significant differences between the groups were found in two-month BCVA (P = 0.505, two-month central macular thickness (P = 0.660, or two-month retinal volume (P = 0.582.Conclusion: The short-term results of this pilot study

  9. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

    OpenAIRE

    Suominen, Tiina; Bachinski, Linda L; Auvinen, Satu; Hackman, Peter; Baggerly, Keith A; Angelini, Corrado; Peltonen, Leena; Krahe, Ralf; Udd, Bjarne

    2011-01-01

    Myotonic dystrophy (DM) is the most common adult-onset muscular dystrophy with an estimated prevalence of 1/8000. There are two genetically distinct types, DM1 and DM2. DM2 is generally milder with more phenotypic variability than the classic DM1. Our previous data on co-segregation of heterozygous recessive CLCN1 mutations in DM2 patients indicated a higher than expected DM2 prevalence. The aim of this study was to determine the DM2 and DM1 frequency in the general population, and to explore...

  10. Metamorphopsia assessment before and after vitrectomy for macular hole

    DEFF Research Database (Denmark)

    Krøyer, Kristian; Christensen, Ulrik; la Cour, Morten

    2009-01-01

    PURPOSE: To evaluate the degree of metamorphopsia in 42 patients before and 6 months after vitrectomy for idiopathic unilateral macular hole. METHODS: Semicircular test and reference stimuli of variable diameters were applied in a binocular test that measured interocular size disparity in patient...

  11. Prognostic significance of delayed structural recovery after macular hole surgery

    DEFF Research Database (Denmark)

    Christensen, Ulrik C; Krøyer, Kristian; Sander, Birgit

    2009-01-01

    PURPOSE: To assess the prognostic significance for visual function of persistent subfoveal fluid and persistent photoreceptor layer discontinuity in eyes in which hole closure had been obtained 3 months after macular hole surgery. DESIGN: Ancillary study of subjects enrolled in a randomized clini...

  12. AGE-RELATED MACULAR DEGENERATION -AN EMERGING AND ...

    African Journals Online (AJOL)

    LIVINGSTON

    Zeaxanthin have also been shown to slow down macular degeneration. These vitamins and minerals are found in dark green leafy vegetables like spinach and orange bell peppers (Zexthin). They are also found in turkey, chicken and cold water fish. While recommending dietary supplements, be mindful of the high risk of ...

  13. Treatment of dry age-related macular degeneration with dobesilate.

    Science.gov (United States)

    Cuevas, P; Outeiriño, L A; Angulo, J; Giménez-Gallego, G

    2012-06-21

    The authors present anatomical and functional evidences of dry age-macular degeneration improvement, after intravitreal treatment with dobesilate. Main outcomes measures were normalisation of retinal structure and function, assessed by optical coherence tomography, fundus-monitored microperimetry, electrophysiology and visual acuity. The effect might be related to the normalisation of the outer retinal architecture.

  14. Diagnosing and monitoring diabetic macular edema: structural and functional tests.

    Science.gov (United States)

    Midena, Edoardo; Vujosevic, Stela

    2015-10-01

    Diabetic macular edema remains a major cause of visual impairment in adults despite the use of intensive glycemic control, photocoagulation therapy and new intravitreal drugs in the treatment of this disease. Although early diagnosis and treatment lead to better results, we still have patients who become legally blind. Therefore, better structural and functional characterization of this disease is necessary in order to customize treatment.

  15. Inverted Internal Limiting Membrane Flap For Large Traumatic Macular Holes.

    Science.gov (United States)

    Abou Shousha, Mohsen Ahmed

    2016-01-01

    The aim of the study was to assess the role of inverted internal limiting membrane flap as a treatment option for large traumatic macular holes.This is a prospective noncomparative study in which 12 eyes with large traumatic macular holes (basal diameter of 1300-2800 μm) since 3 to 6 months were subjected to standard 23-gauge vitrectomy with removal of the posterior hyaloid, brilliant blue G (BBG)-assisted internal limiting membrane peeling in a circular fashion keeping it attached to the edge of the hole to create a flap. At the end of the surgery, air fluid exchange was done with inversion of the internal limiting membrane flap inside the macular hole using the soft tipped cannula and sulfur hexafluoride 20% as tamponade. The main follow-up measures are the best corrected visual acuity and the optical coherence tomography for 6 to 9 months.All the included eyes had a closed hole from the first week postoperative and along the follow-up period (6-9 months). The best corrected visual acuity improved from 20/2000 to 20/200 with a median of 20/400 preoperatively to 20/400 to 20/50 with a median of 20/100 at the end of follow-up period.Inverted internal limiting membrane flap is a good adjuvant to standard vitrectomy in the management of large traumatic macular holes that led to the 100% closure rate and improvement of best corrected visual acuity.

  16. The molecular genetic basis of age-related macular degeneration ...

    Indian Academy of Sciences (India)

    2009-12-10

    Dec 10, 2009 ... (RPE), Bruch's membrane (BM) and choriocapillaries (Fine et al. 2000 ... macular recovery) are experienced by patients causing diffi- culty with ..... BF. Component of alternate complement pathway. 8. 8. Gold et al. 2006; Maller et al. 2006;. McKay et al. 2009; Spencer et al. 2007;. Jakobsdottir et al. 2008 ...

  17. Reproducibility of corneal, macular and retinal nerve fiber layer ...

    African Journals Online (AJOL)

    Abstract. Purpose: To determine the intra-session and inter-session reproducibility of corneal, macular and retinal nerve fiber layer thick- ness (RNFL) measurements with the iVue-100 optical coherence tomography in normal eyes. Methods: These parameters were measured in the right eyes of 50 healthy participants with ...

  18. Complement factor d in age-related macular degeneration

    NARCIS (Netherlands)

    Stanton, C.M.; Yates, J.R.W.; Hollander, A.I. den; Seddon, J.M.; Swaroop, A.; Stambolian, D.; Fauser, S.; Hoyng, C.B.; Yu, Y.; Atsuhiro, K.; Branham, K.; Othman, M.; Chen, W.; Kortvely, E.; Chalmers, K.; Hayward, C.; Moore, A.T.; Dhillon, B.; Ueffing, M.; Wright, A.F.

    2011-01-01

    Purpose. To examine the role of complement factor D (CFD) in age-related macular degeneration (AMD) by analysis of genetic association, copy number variation, and plasma CFD concentrations. Methods. Single nucleotide polymorphisms (SNPs) in the CFD gene were genotyped and the results analyzed by

  19. Prevalence of Age-Related Macular Degeneration in Europe

    NARCIS (Netherlands)

    Colijn, Johanna M.; Buitendijk, Gabriëlle H. S.; Prokofyeva, Elena; Alves, Dalila; Cachulo, Maria L.; Khawaja, Anthony P.; Cougnard-Gregoire, Audrey; Merle, Bénédicte M. J.; Korb, Christina; Erke, Maja G.; Bron, Alain; Anastasopoulos, Eleftherios; Meester-Smoor, Magda A.; Segato, Tatiana; Piermarocchi, Stefano; de Jong, Paulus T. V. M.; Vingerling, Johannes R.; Topouzis, Fotis; Creuzot-Garcher, Catherine; Bertelsen, Geir; Pfeiffer, Norbert; Fletcher, Astrid E.; Foster, Paul J.; Silva, Rufino; Korobelnik, Jean-François; Delcourt, Cécile; Klaver, Caroline C. W.; Ajana, Soufiane; Arango-Gonzalez, Blanca; Arndt, Verena; Bhatia, Vaibhav; Bhattacharya, Shomi S.; Biarnés, Marc; Borrell, Anna; Bühren, Sebastian; Calado, Sofia M.; Cougnard-Grégoire, Audrey; Dammeier, Sascha; de Jong, Eiko K.; de la Cerda, Berta; den Hollander, Anneke I.; Diaz-Corrales, Francisco J.; Diether, Sigrid; Emri, Eszter; Endermann, Tanja; Ferraro, Lucia L.; Garcia, Míriam; Heesterbeek, Thomas J.; Honisch, Sabina; Hoyng, Carel B.; Kersten, Eveline; Kilger, Ellen; Langen, Hanno; Lengyel, Imre; Luthert, Phil; Maugeais, Cyrille; Meester-Smoor, Magda; Monés, Jordi; Nogoceke, Everson; Peto, Tunde; Pool, Frances M.; Rodríguez, Eduardo; Ueffing, Marius; Ulrich Bartz-Schmidt, Karl U.; van Leeuwen, Elisabeth M.; Verzijden, Timo; Zumbansen, Markus; Acar, Niyazi; Anastosopoulos, Eleftherios; Azuara-Blanco, Augusto; Bergen, Arthur; Binquet, Christine; Bird, Alan; Brétillon, Lionel; Buitendijk, Gabrielle; Cachulo, Maria Luz; Chakravarthy, Usha; Chan, Michelle; Chang, Petrus; Colijn, Johanna; Cumberland, Philippa; Cunha-Vaz, José; Daien, Vincent; Deak, Gabor; Delyfer, Marie-Noëlle; den Hollander, Anneke; Dietzel, Martha; Erke, Maja Gran; Fauser, Sascha; Finger, Robert; Fletcher, Astrid; Foster, Paul; Founti, Panayiota; Göbel, Arno; Gorgels, Theo; Grauslund, Jakob; Grus, Franz; Hammond, Christopher; Helmer, Catherine; Hense, Hans-Werner; Hermann, Manuel; Hoehn, René; Hogg, Ruth; Holz, Frank; Hoyng, Carel; Jansonius, Nomdo; Janssen, Sarah; Khawaja, Anthony; Klaver, Caroline; Lamparter, Julia; Le Goff, Mélanie; Leal, Sergio; Lechanteur, Yara; Lehtimäki, Terho; Lotery, Andrew; Leung, Irene; Mauschitz, Matthias; Merle, Bénédicte; Meyer Zu Westrup, Verena; Midena, Edoardo; Miotto, Stefania; Mirshahi, Alireza; Mohan-Saïd, Sadek; Mueller, Michael; Muldrew, Alyson; Nunes, Sandrina; Oexle, Konrad; Rahi, Jugnoo; Raitakari, Olli; Ribeiro, Luisa; Rougier, Marie-Bénédicte; Sahel, José; Salonikiou, Aggeliki; Sanchez, Clarisa; Schmitz-Valckenberg, Steffen; Schweitzer, Cédric; Shehata, Jasmin; Silvestri, Giuliana; Simader, Christian; Souied, Eric; Springelkamp, Henriet; Tapp, Robyn; Verhoeven, Virginie; Von Hanno, Therese; Vujosevic, Stela; Williams, Katie; Wolfram, Christian; Yip, Jennifer; Zerbib, Jennyfer; Zwiener, Isabella

    2017-01-01

    Purpose: Age-related macular degeneration (AMD) is a frequent, complex disorder in elderly of European ancestry. Risk profiles and treatment options have changed considerably over the years, which may have affected disease prevalence and outcome. We determined the prevalence of early and late AMD in

  20. Assessing Errors Inherent in OCT-Derived Macular Thickness Maps

    Directory of Open Access Journals (Sweden)

    Daniel Odell

    2011-01-01

    Full Text Available SD-OCT has become an essential tool for evaluating macular pathology; however several aspects of data collection and analysis affect the accuracy of retinal thickness measurements. Here we evaluated sampling density, scan centering, and axial length compensation as factors affecting the accuracy of macular thickness maps. Forty-three patients with various retinal pathologies and 113 normal subjects were imaged using Cirrus HD-OCT. Reduced B-scan density was associated with increased interpolation error in ETDRS macular thickness plots. Correcting for individual differences in axial length revealed modest errors in retinal thickness maps, while more pronounced errors were observed when the ETDRS plot was not positioned at the center of the fovea (which can occur as a result of errant fixation. Cumulative error can exceed hundreds of microns, even under “ideal observer” conditions. This preventable error is particularly relevant when attempting to compare macular thickness maps to normative databases or measuring the area or volume of retinal features.

  1. Macular volume and central foveal thickness measurements in ...

    African Journals Online (AJOL)

    Objective: To determine macular volume and central foveal thickness measurements in normal eyes of healthy Nigerian adults using Stratus optical coherence tomography. Subjects and Methods: Consenting 100 adults Nigerians with normal eyes were recruited and examined using Carl Zeiss Stratus Optical Coherence ...

  2. Cystoid macular edema in uveitis : More than meets the eye

    NARCIS (Netherlands)

    Kooij, Bram Wouter van

    2006-01-01

    Cystoid macular edema (CME) is a major complication of uveitis, which has an especially severe course in elderly patients. CME was noted in 33% of all uveitis patients, of whom 44% had low vision (visual acuity equal to or less than 20/60) in at least one eye. Of all uveitis patients with low

  3. on visual acuity in age related macular degeneration

    African Journals Online (AJOL)

    marine origin) in the treatment of age related macular degeneration (AMD). In a randomized double blind clinical trial 280 eyes of 280 (157 F, 123 M) patients with wet and dry AMD were randomly assigned in treatment or placebo groups. Patients in ...

  4. Ranibizumab vs. aflibercept for wet age-related macular degeneration

    DEFF Research Database (Denmark)

    Szabo, Shelagh M; Hedegaard, Morten; Chan, Keith

    2015-01-01

    OBJECTIVE: Although a reduced aflibercept (2.0 mg) injection frequency relative to the approved dosing posology is included in national treatment guidelines for wet age-related macular degeneration (AMD), there is limited evidence of its comparative efficacy. The objective was to compare...

  5. Awareness, Knowledge, and Concern about Age-Related Macular Degeneration

    Science.gov (United States)

    Cimarolli, Verena R.; Laban-Baker, Allie; Hamilton, Wanda S.; Stuen, Cynthia

    2012-01-01

    Age-related macular degeneration (AMD)--a common eye disease causing vision loss--can be detected early through regular eye-health examinations, and measures can be taken to prevent visual decline. Getting eye examinations requires certain levels of awareness, knowledge, and concern related to AMD. However, little is known about AMD-related…

  6. Therapeutic Potential of Statins in Age-related Macular Degeneration

    African Journals Online (AJOL)

    Age-related macular degeneration (ARMD) is the leading cause of irreversible vision loss, affecting one in three people aged 75 and above. Although exciting new pharmaceuticals to treat ARMD such as endothelial growth factor (VEGF) inhibitors, are now available, they are effective only in selected group of patients, and ...

  7. Age-related macular degeneration in Onitsha, Nigeria | Nwosu ...

    African Journals Online (AJOL)

    Objectives: To determine the incidence, pattern and ocular morbidity associated with age-related macular degeneration (AMD) at the Guinness Eye Center Onitsha Nigeria. Materials and Methods: The case files of all new patients aged 50 years and above seen between January 1997 and December 2004 were reviewed.

  8. Macular volume and central foveal thickness measurements in ...

    African Journals Online (AJOL)

    Time Domain OCT is more accurate and has faster acquisition time; this machine is not available in our institution. Normal macular volume and central foveal thickness measurements in Nigerian adults is presented and is comparable to that of Indian and Chinese populations, but lower than reported in Caucasians.

  9. Nutritional risk factors for age-related macular degeneration

    NARCIS (Netherlands)

    Ersoy, L.; Ristau, T.; Lechanteur, Y.T.E.; Hahn, M.; Hoyng, C.B.; Kirchhof, B.; Hollander, A.I. den; Fauser, S.

    2014-01-01

    Purpose. To evaluate the role of nutritional factors, serum lipids, and lipoproteins in late age-related macular degeneration (late AMD). Methods. Intake of red meat, fruit, fish, vegetables, and alcohol, smoking status, and body mass index (BMI) were ascertained questionnaire-based in 1147 late AMD

  10. Reproducibility of corneal, macular and retinal nerve fiber layer ...

    African Journals Online (AJOL)

    Purpose: To determine the intra-session and inter-session reproducibility of corneal, macular and retinal nerve fiber layer thickness (RNFL) measurements with the iVue-100 optical coherence tomography in normal eyes. Methods: These parameters were measured in the right eyes of 50 healthy participants with normal ...

  11. Gene-diet interactions in age-related macular degeneration

    Science.gov (United States)

    Age-related macular degeneration (AMD) is a prevalent blinding disease, accounting for roughly 50% of blindness in developed nations. Very significant advances have been made in terms of discovering genetic susceptibilities to AMD as well as dietary risk factors. To date, nutritional supplementation...

  12. Nutritional modulation of age-related macular degeneration

    Science.gov (United States)

    Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly worldwide. It affects 30-50 million individuals and clinical hallmarks of AMD are observed in at least one third of persons over the age of 75 in industrialized countries (Gehrs et al., 2006). Costs associated wi...

  13. Resultado funcional e índice macular em portadores de buraco macular submetidos à cirurgia com remoção da membrana limitante interna Functional outcome and macular index in macular hole patients who underwent surgery with internal limiting membrane removal

    Directory of Open Access Journals (Sweden)

    José Ricardo Diniz

    2008-04-01

    Full Text Available OBJETIVOS: Avaliar o resultado funcional e o índice macular dos portadores de buraco macular submetidos à cirurgia com remoção da membrana limitante interna. MÉTODOS: Quinze olhos de 15 pacientes com buraco macular estágios 2, 3 e 4 foram incluídos no estudo. Todos foram submetidos à cirurgia de buraco macular convencional com remoção da membrana limitante interna corada pelo azul de tripan. Melhor acuidade visual com correção e cortes transversais medidos por tomografia de coerência óptica (OCT foram avaliados no pré- e pós-operatório. O índice macular (razão entre a altura e base do buraco macular foi calculado e correlacionado com o diâmetro mínimo do buraco macular e o ganho de acuidade visual pós-operatória. RESULTADOS: Obteve-se fechamento do buraco macular em todos pacientes operados. Em 86,7%, houve ganho de pelo menos três linhas de visão. O índice macular demonstrou correlação negativa significante com o diâmetro mínimo (r=0,811. Não foi observada correlação significante entre o índice macular e o ganho de acuidade visual pós-operatória (r=0,351. CONCLUSÃO: Os resultados funcionais na cirurgia do buraco macular com remoção da membrana limitante interna foram bons neste grupo de pacientes. O índice macular demonstrou ser compatível com a configuração espacial do buraco macular, porém não foi preditor de resultados visuais.PURPOSE: To evaluate the functional outcome and macular index in patients with macular hole who underwent surgery with internal limiting membrane removal. METHODS: Fifteen eyes of 15 patients with idiopathic macular hole stages 2, 3 or 4 were enrolled in this study. All patients underwent conventional macular hole surgery with trypan blue staining to remove the internal limiting membrane. The best-corrected visual acuity and cross-sectional images of macular hole measured by optical coherence tomography (OCT were evaluated pre- and postoperatively. The macular hole index

  14. Risk of cancer in relatives of patients with myotonic dystrophy

    DEFF Research Database (Denmark)

    Lund, M; Diaz, L J; Gørtz, S

    2014-01-01

    BACKGROUND AND PURPOSE: Myotonic dystrophies (DM) are autosomal dominantly inherited neuromuscular disorders caused by unstable nucleotide repeat expansions. DM and cancer have been associated, but the pathogenesis behind the association remains unclear. It could relate to derived effects of the DM...

  15. Reflex sympathetic dystrophy after modified radical mastectomy: a case report.

    Science.gov (United States)

    Saddison, D K; Vanek, V W

    1993-07-01

    Despite the long history of descriptions of reflex sympathetic dystrophy (RSD), much confusion remains regarding its pathogenesis, diagnosis, and treatment. It most commonly occurs after trauma and is more frequent in women, white persons, and the elderly. The first case of RSD after mastectomy is reported and the proposed pathophysiology and management of RSD are reviewed.

  16. Brain imaging in myotonic dystrophy type 1: A systematic review

    NARCIS (Netherlands)

    Okkersen, K.; Monckton, D.G.; Le, N.; Tuladhar, A.M.; Raaphorst, J.; Engelen, B.G.M. van

    2017-01-01

    OBJECTIVE: To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1). METHODS: We searched Embase (index period 1974-2016) and MEDLINE (index period 1946-2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT,

  17. Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy

    NARCIS (Netherlands)

    Mul, K.; Boogaard, M.L. van den; Maarel, S.M. van der; Engelen, B.G.M. van

    2016-01-01

    PURPOSE OF REVIEW: This review gives an overview of the currently known key clinical and (epi)genetic aspects of facioscapulohumeral muscular dystrophy (FSHD) and provides perspectives to facilitate future research. RECENT FINDINGS: Clinically, imaging studies have contributed to a detailed

  18. Reflex sympathetic dystrophy: Early treatment and psychological aspects

    NARCIS (Netherlands)

    Geertzen, J.H.B.; De Bruijn, H.; De Bruijn-Kofman, A.T.; Arendzen, J.H.

    1994-01-01

    We report the results of two prospective studies of early treatment and psychological aspects in a series of 26 patients with sympathetic reflex dystrophy of the hand in which treatment was started within 3 months after diagnosis. Ismelin blocks is an often used therapy in sympathetic reflex

  19. Muscle phenotype in patients with myotonic dystrophy type 1

    DEFF Research Database (Denmark)

    Andersen, Anne Grete Kielgast; Orngreen, Mette C; Preisler, Nicolai Rasmus

    2012-01-01

    Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand-held dynamometry. Myotonia...

  20. Dysphagia in Duchenne Muscular Dystrophy Assessed by Validated Questionnaire

    Science.gov (United States)

    Archer, Sally K.; Garrod, Rachel; Hart, Nicholas; Miller, Simon

    2013-01-01

    Background: Duchenne muscular dystrophy (DMD) leads to progressive muscular weakness and death, most typically from respiratory complications. Dysphagia is common in DMD; however, the most appropriate swallowing assessments have not been universally agreed and the symptoms of dysphagia remain under-reported. Aims: To investigate symptoms of…

  1. The Child with Muscular Dystrophy in School. Revised.

    Science.gov (United States)

    Schock, Nancy C.

    Practical information on children with muscular dystrophy is intended to help parents and teachers facilitate their inclusion in mainstreamed classrooms. Major topics addressed include the following: transportation arrangements; providing full information to the teacher regarding the child's specific abilities and physical limitations;…

  2. Muscle Weakness and Speech in Oculopharyngeal Muscular Dystrophy

    Science.gov (United States)

    Neel, Amy T.; Palmer, Phyllis M.; Sprouls, Gwyneth; Morrison, Leslie

    2015-01-01

    Purpose: We documented speech and voice characteristics associated with oculopharyngeal muscular dystrophy (OPMD). Although it is a rare disease, OPMD offers the opportunity to study the impact of myopathic weakness on speech production in the absence of neurologic deficits in a relatively homogeneous group of speakers. Methods: Twelve individuals…

  3. Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy

    DEFF Research Database (Denmark)

    Dahlqvist, Julia R; Vissing, Christoffer R; Thomsen, Carsten

    2014-01-01

    OBJECTIVE: In this study, involvement of paraspinal muscles in 50 patients with facioscapulohumeral dystrophy (FSHD) was evaluated using MRI. METHODS: The Dixon MRI technique was used in this observational study to quantify muscle fat content of paraspinal and leg muscles. Muscle strength...

  4. MRI as outcome measure in facioscapulohumeral muscular dystrophy

    DEFF Research Database (Denmark)

    Andersen, Grete; Dahlqvist, Julia R; Vissing, Christoffer R

    2017-01-01

    There is no effective treatment available for facioscapulohumeral muscular dystrophy type 1 (FSHD1), but emerging therapies are under way that call for a better understanding of natural history in this condition. In this prospective, longitudinal study, we used quantitative MRI to assess yearly...

  5. Swallow Characteristics in Patients with Oculopharyngeal Muscular Dystrophy

    Science.gov (United States)

    Palmer, Phyllis M.; Neel, Amy T.; Sprouls, Gwyneth; Morrison, Leslie

    2010-01-01

    Purpose: This prospective investigation evaluates oral weakness and its impact on swallow function, weight, and quality of life in patients with oculopharyngeal muscular dystrophy (OPMD). Method: Intraoral pressure, swallow pressure, and endurance were measured using an Iowa Oral Performance Instrument in participants with OPMD and matched…

  6. Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2

    NARCIS (Netherlands)

    Tieleman, Alide A.; van Vliet, Judith; Jansen, Jan B. M. J.; van der Kooi, Anneke J.; Borm, George F.; van Engelen, Baziel G. M.

    2008-01-01

    The phenotype of DM2 shows similarities as well as differences to that of Myotonic Dystrophy type 1 (DM1). Gastrointestinal dysfunction is common in DM1 and 25% of the patients consider this to be the most disabling consequence of the disease. Little is known about gastrointestinal involvement in

  7. Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.

    NARCIS (Netherlands)

    Tieleman, A.A.; Vliet, J van; Jansen, J.B.M.J.; Kooi, A.J. van der; Borm, G.F.; Engelen, B.G.M. van

    2008-01-01

    The phenotype of DM2 shows similarities as well as differences to that of Myotonic Dystrophy type 1 (DM1). Gastrointestinal dysfunction is common in DM1 and 25% of the patients consider this to be the most disabling consequence of the disease. Little is known about gastrointestinal involvement in

  8. A clinical and genetic study in myotonic dystrophy

    NARCIS (Netherlands)

    C.J. Höweler (Chris)

    1986-01-01

    textabstractThe genetic counselling for myotonic dystrophy patients appears to be relatively simple. The disease is transtnitted as an autosomal dominant trait, and the patients risk of transmitting the abnormal gene to his children is 50%. However, many patients at the age at which genetic

  9. Poor Facial Affect Recognition among Boys with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Hinton, V. J.; Fee, R. J.; De Vivo, D. C.; Goldstein, E.

    2007-01-01

    Children with Duchenne or Becker muscular dystrophy (MD) have delayed language and poor social skills and some meet criteria for Pervasive Developmental Disorder, yet they are identified by molecular, rather than behavioral, characteristics. To determine whether comprehension of facial affect is compromised in boys with MD, children were given a…

  10. Functional protein networks unifying limb girdle muscular dystrophy

    NARCIS (Netherlands)

    Morrée, Antoine de

    2011-01-01

    Limb Girdle Muscular Dystrophy (LGMD) is a rare progressive heterogeneous disorder that can be caused by mutations in at least 21 different genes. These genes are often widely expressed and encode proteins with highly differing functions. And yet mutations in all of them give rise to a similar

  11. Genetic testing for Duchenne/Becker muscular dystrophy in ...

    African Journals Online (AJOL)

    The new mutation rate is high, explained in part by the large size of the gene, and in approximately 1/3 of cases, the mother of an affected boy is not a carrier. Becker muscular dystrophy (BMD) (OMIM #300376) is a milder form of the disease, caused by mutations in the same gene. The effect of the mutations is different for ...

  12. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.

    NARCIS (Netherlands)

    Sluijs, B.M. van der; Hoefsloot, L.H.; Padberg, G.W.A.M.; Maarel, S.M. van der; Engelen, B.G.M. van

    2003-01-01

    This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically

  13. Cytokines and growth factors in Duchene muscular dystrophy patients

    African Journals Online (AJOL)

    Introduction: Dystrophin deficiency associated with Duchene muscular dystrophy (DMD) results in chronic inflammation and severe skeletal muscle degeneration, where the extent of muscle fibrosis contributes to disease severity. The microenvironment of dystrophic muscles is associated with variation in levels of cytokine ...

  14. Antisense mediated exon skipping therapy for duchenne muscular dystrophy (DMD)

    DEFF Research Database (Denmark)

    Brolin, Camilla; Shiraishi, Takehiko

    2011-01-01

    Duchenne Muscular Dystrophy (DMD) is a lethal disease caused by mutations in the dystrophin gene (DMD) that result in the absence of essential muscle protein dystrophin. Among many different approaches for DMD treatment, exon skipping, mediated by antisense oligonucleotides, is one of the most...

  15. Quantitative assessment of calf circumference in Duchenne muscular dystrophy patients

    NARCIS (Netherlands)

    Beenakker, EAC; de Vries, Joeke; Fock, JM; van Tol, M; Brouwer, OF; Maurits, NM; van der Hoeven, JH

    2002-01-01

    Duchenne muscular dystrophy is clinically characterised by progressive muscle weakness and a gradual increase in the size of some affected muscles, especially calf muscles. The extent of calf enlargement is usually determined by subjective visual assessment. The purpose of this study was to

  16. Indicators of Apoptosis in Duchenne Muscular Dystrophy Patients ...

    African Journals Online (AJOL)

    Background: Tissue sections of dystrophic muscle demonstrate apoptotic myonuclei in degenerating muscle fibers of Duchene muscle dystrophy (DMD) patients. The apoptosis cascade can be triggered by 2 main pathways, via an intrinsic, endogenous system such as the mitochondrial Bax/Bcl-2 or via an extrinsic system ...

  17. Duchenne muscular dystrophy - a molecular service | Ballo | South ...

    African Journals Online (AJOL)

    In 1987 a carrier detection and prenatal diagnostic service for Duchenne muscular dystrophy using molecular technology was instituted at the Department of Human Genetics, University of Cape Town, to serve affe.cted families in southern Africa. DNA samples from 100 affected male subjects and 350 of their relatives from a ...

  18. Advances in genetic therapeutic strategies for Duchenne muscular dystrophy.

    Science.gov (United States)

    Guiraud, Simon; Chen, Huijia; Burns, David T; Davies, Kay E

    2015-12-01

    What is the topic of this review? This review highlights recent progress in genetically based therapies targeting the primary defect of Duchenne muscular dystrophy. What advances does it highlight? Over the last two decades, considerable progress has been made in understanding the mechanisms underlying Duchenne muscular dystrophy, leading to the development of genetic therapies. These include manipulation of the expression of the gene or related genes, the splicing of the gene and its translation, and replacement of the gene using viral approaches. Duchenne muscular dystrophy is a lethal X-linked disorder caused by mutations in the dystrophin gene. In the absence of the dystrophin protein, the link between the cytoskeleton and extracellular matrix is destroyed, and this severely compromises the strength, flexibility and stability of muscle fibres. The devastating consequence is progressive muscle wasting and premature death in Duchenne muscular dystrophy patients. There is currently no cure, and despite exhaustive palliative care, patients are restricted to a wheelchair by the age of 12 years and usually succumb to cardiac or respiratory complications in their late 20s. This review provides an update on the current genetically based therapies and clinical trials that target or compensate for the primary defect of this disease. These include dystrophin gene-replacement strategies, genetic modification techniques to restore dystrophin expression, and modulation of the dystrophin homologue, utrophin, as a surrogate to re-establish muscle function. © 2015 The Authors. Experimental Physiology published by John Wiley & Sons Ltd on behalf of The Physiological Society.

  19. Dasatinib as a treatment for Duchenne muscular dystrophy.

    Science.gov (United States)

    Lipscomb, Leanne; Piggott, Robert W; Emmerson, Tracy; Winder, Steve J

    2016-01-15

    Identification of a systemically acting and universal small molecule therapy for Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models, we have identified tyrosine phosphorylation and degradation of β-dystroglycan as a key event in the aetiology of Duchenne muscular dystrophy. Thus, preventing tyrosine phosphorylation and degradation of β-dystroglycan presents itself as a potential therapeutic strategy. Using the dystrophic sapje zebrafish, we have investigated the use of tyrosine kinase and other inhibitors to treat the dystrophic symptoms in this model of Duchenne muscular dystrophy. Dasatinib, a potent and specific Src tyrosine kinase inhibitor, was found to decrease the levels of β-dystroglycan phosphorylation on tyrosine and to increase the relative levels of non-phosphorylated β-dystroglycan in sapje zebrafish. Furthermore, dasatinib treatment resulted in the improved physical appearance of the sapje zebrafish musculature and increased swimming ability as measured by both duration and distance of swimming of dasatinib-treated fish compared with control animals. These data suggest great promise for pharmacological agents that prevent the phosphorylation of β-dystroglycan on tyrosine and subsequent steps in the degradation pathway as therapeutic targets for the treatment of Duchenne muscular dystrophy. © The Author 2015. Published by Oxford University Press.

  20. Phonological Awareness Skills in Young Boys with Duchenne Muscular Dystrophy

    Science.gov (United States)

    Waring, Phoebe; Woodyatt, Gail

    2011-01-01

    Substantial research has detailed the reading deficits experienced by children with Duchenne muscular dystrophy (DMD). Although phonological awareness (PA) is vital in reading development, little is known about PA in the DMD population. This pilot study describes the PA abilities of a group of five young children with DMD, comparing the results…

  1. Cardiac Complications of Fukuyama-Type Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-07-01

    Full Text Available The course of left ventricular function was evaluated using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy (FCMD, in a study at the Tokyo Women’s Medical University, Tokyo, Japan.

  2. Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy

    NARCIS (Netherlands)

    de Visser, M.; Verbeeten, B.

    1985-01-01

    Clinical and computed tomographic (CT) findings in 3 manifesting carriers of Duchenne muscular dystrophy are reported. CT proved to be an important adjunct to the clinical examination: in all our 3 cases a decrease in density was found in various non-paretic muscles

  3. Genetics Home Reference: Duchenne and Becker muscular dystrophy

    Science.gov (United States)

    ... Citation on PubMed Verma S, Anziska Y, Cracco J. Review of Duchenne muscular dystrophy (DMD) for the pediatricians in the community. Clin Pediatr (Phila). 2010 Nov;49(11):1011-7. doi: 10.1177/0009922810378738. Epub 2010 Aug 19. Review. Citation on PubMed Wein N, Alfano L, Flanigan ...

  4. Limb girdle muscular dystrophy: a pathological and immunohistochemical reevaluation

    NARCIS (Netherlands)

    van der Kooi, A. J.; Ginjaar, H. B.; Busch, H. F.; Wokke, J. H.; Barth, P. G.; de Visser, M.

    1998-01-01

    Ninety-seven muscle biopsies from 81 limb girdle muscular dystrophy (LGMD) patients [32 autosomal recessive (AR), 15 autosomal dominant (AD), 34 sporadic] were morphologically reevaluated. Sarcoglycan analysis was done in 37 available muscle biopsies of AR and sporadic patients. Chi-square tests

  5. Language Delay in Duchenne’s Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available Developmental milestones of 130 male children with Duchenne’s muscular dystrophy (DMD and their 59 unaffected siblings were determined by retrospective parental reports and compared by researchers at the City University and Columbia University, New York, NY; and Scottish Rite Children’s Medical Center, Atlanta, GA.

  6. Hyperbaric oxygen therapy for the treatment of radiation-induced macular ischemia

    Directory of Open Access Journals (Sweden)

    Shamim A Haji

    2010-05-01

    Full Text Available Shamim A Haji1,2, Ronald EP Frenkel1,2,31Eye Research Foundation, Stuart, FL, USA; 2East Florida Eye Institute, Stuart, FL, USA; 3Bascom Palmer Eye Institute, Miami, FL, USAPurpose: To report a case of radiation-induced macular ischemia where vision and macular perfusion improved after hyperbaric oxygen (HBO therapy.Methods: A 62-year-old male patient developed radiation-induced macular ischemia after he was treated with radiation for brain glioma. The patient presented with best spectacle-corrected visual acuity (BSCVA acuity of 20/400 in his right eye. Optical coherence tomography (OCT showed central macular thickness of 468 μm. The patient received focal laser, intravitreal triamcinolone, and HBO therapy.Results: The patient’s vision improved from 20/400 to 20/100 after focal laser and intravitreal triamcinolone. His central macular thickness improved from 468 μm to 132 μm. After receiving HBO therapy, his VA improved to 20/50 and fluorescein angiography showed improvement in macular perfusion.Conclusion: HBO therapy improves macular perfusion in patients with radiation-induced macular ischemia.Keywords: macular ischemia, visual acuity, hyperbaric oxygen therapy, macular perfusion

  7. Stem cell transplantation for treating Duchenne muscular dystrophy

    Science.gov (United States)

    Yang, Xiaofeng

    2012-01-01

    OBJECTIVE: To identify global research trends in stem cell transplantation for treating Duchenne muscular dystrophy using a bibliometric analysis of Web of Science. DATA RETRIEVAL: We performed a bibliometric analysis of studies on stem cell transplantation for treating Duchenne muscular dystrophy from 2002 to 2011 retrieved from Web of Science. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed published articles on stem cell transplantation for treating Duchenne muscular dystrophy indexed in Web of Science; (b) original research articles, reviews, meeting abstracts, proceedings papers, book chapters, editorial material, and news items; and (c) publication between 2002 and 2011. Exclusion criteria: (a) articles that required manual searching or telephone access; (b) documents that were not published in the public domain; and (c) corrected papers. MAIN OUTCOME MEASURES: (1) Annual publication output; (2) distribution according to subject areas; (3) distribution according to journals; (4) distribution according to country; (5) distribution according to institution; (6) distribution according to institution in China; (7) distribution according to institution that cooperated with Chinese institutions; (8) top-cited articles from 2002 to 2006; (9) top-cited articles from 2007 to 2011. RESULTS: A total of 318 publications on stem cell transplantation for treating Duchenne muscular dystrophy were retrieved from Web of Science from 2002 to 2011, of which almost half derived from American authors and institutes. The number of publications has gradually increased over the past 10 years. Most papers appeared in journals with a focus on gene and molecular research, such as Molecular Therapy, Neuromuscular Disorders, and PLoS One. The 10 most-cited papers from 2002 to 2006 were mostly about different kinds of stem cell transplantation for muscle regeneration, while the 10 most-cited papers from 2007 to 2011 were mostly about new techniques of stem cell transplantation

  8. Triamcinolona subtenoniana en el edema macular diabético Subtenon triamcinolone in the diabetic macular edema

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    Eddy Mesa Hernández

    2009-12-01

    Full Text Available INTRODUCCIÓN: La prevalencia de la retinopatía diabética está determinada por el tipo de diabetes mellitus y por el tiempo de evolución de la enfermedad. El edema macular es la principal causa de la disminución de la agudeza visual en el paciente diabético. Un diagnóstico precoz y certero de esta enfermedad, unido al establecimiento de un tratamiento adecuado es crucial en el esfuerzo por reducir la incapacidad visual. El propósito de este trabajo fue determinar la efectividad de la triamcinolona subtenoniana como tratamiento del edema macular en un grupo de pacientes diabéticos. MÉTODOS: Se realizó un estudio descriptivo-prospectivo de caso control. La muestra estuvo formada por 30 pacientes diabéticos que fueron atendidos en el Hospital Clínicoquirúrgico "Dr. Miguel Enríquez, desde enero a junio de 2007, con diagnóstico de edema macular diabético que cumplieron con los criterios de inclusión. RESULTADOS: Predominó el sexo femenino, el grupo de edades más frecuentes fue de 55 a 65 años. Se relacionó el tiempo de evolución con la presencia de edema macular, se evidenció una involución de esta patología, así como una mejoría en la agudeza visual después de aplicado el tratamiento y no se presentaron complicaciones graves. CONCLUSIONES: El tratamiento con acetato de triamcinolona por vía subtenoniana posterior es una alternativa efectiva en el tratamiento de el edema macular.INTRODUCTION: Prevalence of diabetic retinopathy is determined by type of diabetes mellitus and the length of development of the disease. Macular edema is the main cause of reduction in visual acuity of the diabetic patient. An early exact diagnosis of the disease together with an adequate treatment is essential to decrease visual disability. The objective of this paper was to evaluate the effectiveness of subtenon triamcinolone as therapy for macular edema in a group of diabetics. METHODS: A prospective descriptive case-control study was

  9. Durable recovery of the macular architecture and functionality of a diagnosed age-related macular degeneration 1 year after a single intravitreal injection of dobesilate

    Science.gov (United States)

    Cuevas, P; Outeiriño, L A; Azanza, C; Giménez-Gallego, G

    2013-01-01

    Among the age-related diseases that affect vision, age-related macular degeneration is the most frequent cause of blindness in patients older than 60 years. In this communication, we report the full anatomical and functional recovery of a patient diagnosed with wet age-related macular degeneration 1 year after a single intravitreal injection of dobesilate. PMID:24225910

  10. Effect of adding oral calcium dobesilate to laser photocoagulation on the macular thickness in patients with diabetic macular edema: a randomized clinical trial.

    Science.gov (United States)

    Feghhi, Mostafa; Farrahi, Fereydoun; Abbaspour, Mohammadreza; Takhtaeian, Akbar

    2014-12-01

    To evaluate the effect of oral calcium dobesilate (Doxium) on macular thickness in clinically significant macular edema (CSME). Overall, 71 eyes of 40 patients with non-proliferative diabetic retinopathy and clinically significant macular edema were included. All patients were received laser treatment for macular edema. Coherence optical tomography was used to determine the retinal thickness. Patients were randomized into two groups: group A received three Doxium capsule daily and group B received three placebo capsule daily for six months. The mean macular thickness before and after treatment in the group A was 340 and 257 micrometers respectively (24.5% reduced), and in the group B was 336 micrometers and 263 micrometers respectively (21.5% reduced). Macular thickness significantly decreased after treatment in both groups and the reduction in group A is higher but the difference of reduction between the two groups was not statistically significant (P>0.05). In respect to the effect of adding oral Doxium to Laser Photocoagulation on the macular thickness in patients with diabetic macular edema, this study showed no statistically significant difference between Doxium and placebo.

  11. Durable recovery of the macular architecture and functionality of a diagnosed age-related macular degeneration 1 year after a single intravitreal injection of dobesilate.

    Science.gov (United States)

    Cuevas, P; Outeiriño, L A; Azanza, C; Giménez-Gallego, G

    2013-11-13

    Among the age-related diseases that affect vision, age-related macular degeneration is the most frequent cause of blindness in patients older than 60 years. In this communication, we report the full anatomical and functional recovery of a patient diagnosed with wet age-related macular degeneration 1 year after a single intravitreal injection of dobesilate.

  12. Effect of Adding Oral Calcium Dobesilate to Laser Photocoagulation on the Macular Thickness in Patients with Diabetic Macular Edema: A Randomized Clinical Trial

    Directory of Open Access Journals (Sweden)

    Mostafa Feghhi

    2014-12-01

    Full Text Available Purpose: To evaluate the effect of oral calcium dobesilate (Doxium on macular thickness in clinically significant macular edema (CSME. Methods: Overall, 71 eyes of 40 patients with non-proliferative diabetic retinopathy and clinically significant macular edema were included. All patients were received laser treatment for macular edema. Coherence optical tomography was used to determine the retinal thickness. Patients were randomized into two groups: group A received three Doxium capsule daily and group B received three placebo capsule daily for six months. Results: The mean macular thickness before and after treatment in the group A was 340 and 257 micrometers respectively (24.5% reduced, and in the group B was 336 micrometers and 263 micrometers respectively (21.5% reduced. Macular thickness significantly decreased after treatment in both groups and the reduction in group A is higher but the difference of reduction between the two groups was not statistically significant (P>0.05. Conclusion: In respect to the effect of adding oral Doxium to Laser Photocoagulation on the macular thickness in patients with diabetic macular edema, this study showed no statistically significant difference between Doxium and placebo.

  13. Blood-retinal barrier glycerol permeability in diabetic macular edema and healthy eyes: estimations from macular volume changes after peroral glycerol

    DEFF Research Database (Denmark)

    Thornit, Dorte Nellemann; Vinten, Carl Martin; Sander, Birgit

    2010-01-01

    PURPOSE: To compare the changes in macular volume (MV) between healthy subjects and patients with diabetic macular edema (DME) after an osmotic load and to determine the glycerol permeability (P(gly)) of the blood-retinal barrier (BRB). METHODS: In this unmasked study, 13 patients with DME and 5 ...

  14. Evaluation of hand orthoses in Duchenne muscular dystrophy.

    Science.gov (United States)

    Weichbrodt, Johanna; Eriksson, Britt-Marie; Kroksmark, Anna-Karin

    2017-07-07

    The purpose of this study was to evaluate whether treatment of boys with Duchenne muscular dystrophy using hand orthoses could benefit joint mobility, grip strength, or fine motor function. Eight boys with Duchenne muscular dystrophy were provided with individually customised rest orthoses. The results were analysed using single-subject design. The study included a baseline and an intervention phase. A follow-up examination was also performed. Boys with less than 50° passive wrist extension mobility were included. Wrist extension of the dominant hand increased in four and was maintained in four. Wrist extension in the non-dominant hand increased in five, was maintained in two and decreased in one. Thumb abduction in the dominant hand increased in six and two remained stable. In the non-dominant hand five increased and three remained stable. Grip strength and fine motor function showed also positive results. This study indicates that the use of hand orthoses in Duchenne muscular dystrophy can delay development of contractures and improve passive wrist extension and thumb abduction. Hand orthoses can therefore be recommended for boys who start to develop contractures in the long finger flexors. Due to small sample size further studies are needed to confirm this result. Implications for rehabilitation Evaluation of hand orthoses in Duchenne muscular dystrophy. Preserved hand function is of uttermost importance for performance of activities in the late stages of Duchenne muscular dystrophy. Contractures of long finger flexors affect hand function and limit performance of daily activities. Hand orthoses can delay development of contractures and preserve hand function and give prerequisites for independence. The occupational therapists should measure wrist joint mobility regularly to be able to find the right time for intervention with hand orthoses in this progressive disorder.

  15. [Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy].

    Science.gov (United States)

    Silva, Helga Cristina Almeida da; Hiray, Marcia; Vainzof, Mariz; Schmidt, Beny; Oliveira, Acary Souza Bulle; Amaral, José Luiz Gomes do

    2017-05-31

    Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU.L -1 (normal 174IU.L -1 ). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia. Copyright © 2017 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  16. Change in macular thickness in a case of refractory diabetic macular edema with dexamethasone intravitreal implant in comparison to intravitreal bevacizumab: A case report

    Directory of Open Access Journals (Sweden)

    Ashish Sharma

    2012-01-01

    Full Text Available We report on the significant improvement of central macular thickness in a case of clinically significant macular edema after dexamethasone 0.7 mg sustained-release intravitreal implant (Ozurdex®; Allergan, Inc, Irvine, CA, USA. Patient presented to us with persistent clinically significant macular edema (CSME in both eyes. Right eye received dexamethasone implant and left eye received two intravitreal bevacizumab injections 1.25 mg/0.05 mL (Avastin®; Genentech Inc., South San Francisco, CA, USA with an interval of four weeks. After six weeks of follow-up, dexamethasone implant in the right eye showed normal macular thickness whereas persistent macular edema (ME was found even after second intravitreal bevacizumab injection in the left eye.

  17. Combination of Anti-VEGF and Laser Photocoagulation for Diabetic Macular Edema: A Review

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    Laura N. Distefano

    2017-01-01

    Full Text Available Diabetic macular edema (DME is the most common cause of vision loss in diabetic patients. Thirty years ago, the Early Treatment Diabetic Retinopathy Study (ETDRS demonstrated that focal/grid laser photocoagulation reduces moderate vision loss from DME by 50% or more; thus, macular photocoagulation became the gold standard treatment for DME. However, with the development of anti-VEGF drugs (bevacizumab, ranibizumab, and aflibercept, better outcomes were obtained in terms of visual acuity gain and decrease in macular thickness in some studies when antiangiogenic drugs were administered in monotherapy. Macular laser therapy may still play an important role as an adjuvant treatment because it is able to improve macular thickness outcomes and reduce the number of injections needed. Here, we review some of the clinical trials that have assessed the efficacy of macular laser treatment, either as part of the treatment protocol or as rescue therapy.

  18. Macular Hole Progression after Intravitreal Bevacizumab for Hemicentral Retinal Vein Occlusion

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    Manish Nagpal

    2011-01-01

    Full Text Available Macular edema secondary to retinal vein occlusion is commonly being treated with off-label intravitreal bevacizumab with good outcomes. A significant reduction in macular edema and improvement in visual acuity is seen following such a treatment with no serious adverse effects. In the reported case, a full-thickness macular hole was noticed one month after intravitreal bevacizumab for macular edema secondary to hemicentral retinal vein occlusion. On a detailed review of the pre- and postoptical coherence tomography scans, it was realized that there was a preexisting stage 2-3 macular hole which was masked by the hemorrhages and edema at the fovea and the macular hole had progressed following the injection.

  19. Idiopathic horseshoe-like macular tear: a case report

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    Kubota M

    2016-07-01

    Full Text Available Masaomi Kubota,1 Tomohiro Shibata,1 Hisato Gunji,1 Hiroshi Tsuneoka2 1Department of Ophthalmology, The Jikei University School of Medicine Kashiwa Hospital, Chiba, 2Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan Background: Although a few cases with idiopathic horseshoe-like macular tear have been reported, the mechanism remains unknown and a standard treatment has yet to be determined. Objective: To report the outcome for a patient with idiopathic horseshoe-like macular tear who underwent vitreous surgery. Case report: A 65-year-old man with no previous injury or ophthalmic disease presented with abnormal vision in his left eye. Best-corrected visual acuity was 0.8 in the right and 0.3 in the left, and the relative afferent pupillary defect was negative. Ophthalmoscopy revealed a horseshoe-like tear on the temporal side of the macula in the left eye. The tear size was 0.75 disc diameters (DD. Optical coherence tomography showed that the focal retinal detachment reached the fovea. A few days after the first visit, there was no longer adhesion of the flap of the tear to the retina and the tear size had increased to 1.5 DD. The patient underwent vitreous surgery similar to large macular hole surgery, with the tear closure repaired using the inverted internal limiting membrane flap technique with 20% SF6 gas tamponade. Although the tear decreased to 0.5 DD after the surgery, complete closure of the tear was not achieved. Conclusion: While cases with horseshoe-like macular tear following trauma and branch retinal vein occlusion have been reported, to the best of our knowledge, this is the first reported idiopathic case. In the present case, there was expansion of the tear until the patient actually underwent surgery. If vertical vitreous traction indeed plays a role in horseshoe-like macular tears, this will need to be taken into consideration at the time of the vitreous surgery in these types of cases. Keywords

  20. Consistency of ocular coherence tomography fast macular thickness mapping in diabetic diffuse macular edema Consistência da tomografia de coerência óptica no edema macular difuso diabético

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    Fábio Petersen Saraiva

    2007-01-01

    Full Text Available 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.OBJETIVOS: Investigar a consistência das medidas de espessura foveal, volume foveal e volume macular total feitas pela tomografia de coerência óptica em pacientes com e sem edema macular difuso diabético. INTRODUÇÃO: A tomografia de coerência óptica é uma t

  1. Distrofia retiniana com onda rápida escotópica (DRORE associada à síndrome dos cabelos anágenos frouxos (SCAF. Parte I: Achados oftalmológicos Scotopic fast wave retinal dystrophy (SFWRD associated with loose anagen hair syndrome (LAHS. Part I: Ophthalmological findings

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    Mário Teruo Sato

    2004-06-01

    ópica associada à síndrome dos cabelos anágenos frouxos, distrofia cujos achados fundoscópicos são diferentes entre homens e mulheres e com traçado eletrorretinográfico característico.PURPOSE: To describe the ophthalmological findings of a new macular dystrophy associated with loose anagen hair syndrome (LAHS. METHODS: Eleven patients of the same family, four of whom presented ocular abnormalities, were examined. Seven patients were submitted to the following examinations: a complete ophthalmological examination, color test, ultrasonography, angiography, visual field, optic disc topography, electro-oculogram (EOG, electroretinogram (ERG, laboratory and dermatological tests, sweat testing, light microscopy (LM and scanning electron microscopy (SEM of the scalp hair. In four patients, children of affected, examination was restricted to an ophthalmological examination and light microscopy and the scanning electron microscopy of the scalp hair. RESULTS: Of the four affected patients, two affected sisters showed pigmentary dispersions in the posterior pole of the retina with macular coloboma. Two brothers showed pigmentary dispersions in the posterior pole, with greater pigmentation and a yellowish aspect of the macular area without coloboma. The results of the ectro-oculogram and electroretinogram were within normal limits in three patients without ocular abnormalities. Whereas, electro-oculogram was subnormal and electroretinogram was subnormal with short implicit time (fast in the scotopic phase of the patients with the macular dystrophy, suggesting that the site of this dystrophy is at the level of the retinal pigment epithelium. Due to this peculiar behavior of the implicit time of the wave, such finding can be considered as fundamental to make the diagnosis of this dystrophy. The denomination could be scotopic fast wave retinal dystrophy (SFWRD. Light microscopy and scanning electron microscopy of scalp hair confirmed the loose anagen hair syndrome. CONCLUSIONS: We

  2. Degeneração macular relacionada à idade: novas perspectivas Age-related macular degeneration: new perspectives

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    Marcio Bittar Nehemy

    2006-12-01

    Full Text Available A degeneração macular relacionada à idade (DMRI é a principal causa de cegueira legal em indivíduos acima de 50 anos de idade. Embora estudos recentes tenham mostrado que o fator genético é significativo, a patogênese da degeneração macular relacionada à idade permanece obscura, e os fatores de risco não estão ainda completamente estabelecidos. Estudos multicêntricos randomizados, publicados nos últimos anos, demonstraram que uma combinação de vitaminas e minerais é eficaz na redução do risco de desenvolvimento de neovascularização e de progressão para os estágios mais avançados da degeneração macular relacionada à idade. De maneira análoga, a terapia fotodinâmica (PDT e a terapia antiangiogênica também tiveram sua eficácia comprovada no tratamento de membrana neovascular coroideana subfoveal associada à degeneração macular relacionada à idade. Ambas reduzem o risco de perda de visão e, eventualmente, permitem melhora temporária da acuidade visual. Outras modalidades de tratamento, tais como fotocoagulação a laser, remoção cirúrgica da membrana e termoterapia transpupilar (TTT, podem beneficiar apenas um pequeno subgrupo de pacientes. Uma melhor compreensão dos mecanismos fisiopatológicos e dos eventos moleculares nas diversas fases da doença deverão propiciar, em futuro próximo, melhores estratégias para o controle e tratamento da degeneração macular relacionada à idade.Age-related macular degeneration (ARMD is a major source of legal blindness in individuals older than 50 years. Even though recent reports suggest that genetics plays an important role, its pathogenesis remains puzzling and the risk factors for its occurrence are not completely established. Vitamin and mineral supplementation reduced the risk of development of choroidal neovascularization (CNV or progression to the most advanced stages of age-related macular degeneration. Photodynamic therapy (PDT and antiangiogenic therapy

  3. Aspectos clínicos e tomográficos dos microburacos maculares Clinical and tomographic aspects of macular microholes

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    Fernando José de Novelli

    2009-02-01

    Full Text Available OBJETIVO: Descrever os aspectos clínicos e tomográficos do microburaco macular. MÉTODOS: Estudaram-se pacientes portadores de microburaco macular de forma retrospectiva e observacional. Apurou-se história clínica, medida de acuidade visual, biomicroscopia de polo posterior, retinografia, angiofluoresceinografia retiniana e tomografia de coerência óptica. RESULTADOS: Examinaram-se oito olhos de sete pacientes portadores de microburaco macular. A idade variou entre 26 e 63 anos (média de 48,8 anos. Seis pacientes eram do sexo feminino (85,7%. Cinco pacientes apresentaram o microburaco macular no olho direito (62,5%. Quanto à sintomatologia, cinco indivíduos referiram diminuição da acuidade visual (71,4%, um referiu escotoma central (14,3% e um não apresentou queixas visuais (14,3%. A angiofluoresceinografia retiniana não mostrou alterações maculares em cinco dos olhos (71,4%. À tomografia de coerência óptica, os oito olhos apresentaram uma lesão foveal hiporrefletiva e menor do que 100 micra, que acometia as camadas mais profundas da retina neurossensorial. CONCLUSÃO: Microburaco macular é um pequeno defeito lamelar presente na camada externa profunda da retina, que é evidente à biomicroscopia macular como uma lesão arredondada avermelhada de tamanho diminuto, levando a pouca repercussão na função visual, sem caráter progressivo. A história clínica, a acuidade visual, a biomicroscopia de fundo e a tomografia de coerência óptica são os principais elementos para a detecção e o estudo dos mecanismos fisiopatológicos responsáveis pela sua origem e evolução.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

  4. The predictive value of optical coherence tomography after grid laser photocoagulation for diffuse diabetic macular oedema

    DEFF Research Database (Denmark)

    Soliman, W.; Sander, B.; Soliman, K.A.E.N.

    2008-01-01

    Purpose: To assess the predictive value of optical coherence tomography (OCT) mapping of retinal thickness and intraretinal morphological changes after macular grid for diffuse diabetic macular oedema (DMO). Methods: We carried out a prospective, non-controlled, case series study, in which 28 con...... patterns and foveal thickness can help to predict the final visual outcome and final foveal thickness; but not the absolute change in either of these parameters after macular laser therapy Udgivelsesdato: 2008/5...

  5. Bilateral macular holes in X-linked retinoschisis: Now the spectrum is wider

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    Manoj Gautam

    2011-01-01

    Full Text Available Bilateral occurrence of macular hole in X-linked retinoschisis is an extremely rare event. Spectral domain optical coherence tomography (OCT findings revealed that formation of a macular hole is secondary to the retinoschisis process alone. Bilateral macular holes should be added to the spectrum of X-linked retinoschisis variations and the retinoschisis process alone should be accounted for their formation.

  6. Intravitreal bevacizumab (Avastin) for neovascular age-related macular degeneration in treatment-naive patients

    DEFF Research Database (Denmark)

    Pedersen, Karen Bjerg; Sjølie, Anne Katrin; Møller, Flemming

    2008-01-01

    Abstract. Purpose: To report the effects of intravitreal bevacizumab (Avastin((R))) in treatment-naive patients with exudative age-related macular degeneration (ARMD) assessed by visual acuity (VA), optical coherence tomography (OCT) and contrast sensitivity. Methods: A prospective, uncontrolled...... was not statistically significant. Mean macular thickness decreased significantly from baseline to all follow-up examinations (P Macular thickness improved significantly at all time...

  7. Severe Macular Edema in Patients with Juvenile Idiopathic Arthritis-Related Uveitis

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    Maria Pia Paroli

    2013-01-01

    unilateral macular edema. OCT revealed massive macular thickening (range from 550 μm to 1214 μm. Conclusions. Macular edema appeared in female adolescent patients in eyes with long-dating CAU submitted to cataract surgery. In such patients, in presence of age-related microvascular changes due to the enhancer effect of sex hormones, cataract extraction should be a factor triggering the retinal complication.

  8. A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

    OpenAIRE

    Mitsuhashi, Satomi; Ohkuma, Aya; Talim, Beril; Karahashi, Minako; Koumura, Tomoko; Aoyama, Chieko; Kurihara, Mana; Quinlivan, Ros; Sewry, Caroline; Mitsuhashi, Hiroaki; Goto, Kanako; Koksal, Burcu; Kale, Gulsev; Ikeda, Kazutaka; Taguchi, Ryo

    2011-01-01

    Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent to...

  9. Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis

    OpenAIRE

    Bhardwaj, Rishi R.; Andrea Duchini

    2010-01-01

    Myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (DMPK) gene resulting in a defective muscular insulin receptor and insulin resistance. We describe a patient with myotonic dystrophy who developed biopsy-proven non-alcoholic steatohepatitis. We suggest that patients with myotonic dystrophy are at risk of developing steatohepatitis. The relationship between defective insulin receptor and development of steatohe...

  10. Characterization of a Dominant Cone Degeneration in a Green Fluorescent Protein–Reporter Mouse with Disruption of Loci Associated with Human Dominant Retinal Dystrophy

    Science.gov (United States)

    Lipinski, Daniel M.; Yusuf, Mohammed; Barnard, Alun R.; Damant, Christopher; Issa, Peter Charbel; Singh, Mandeep S.; Lee, Edward; Davies, Wayne L.; Volpi, Emanuela V.

    2011-01-01

    Purpose. To characterize anatomically and functionally the retinal degeneration observed in a transgenic mouse line (OPN1LW-EGFP) expressing enhanced green fluorescent protein (EGFP) in a subpopulation of cone photoreceptors, and to map the location of the transgenic insertion. Methods. An anatomic comparison of cone survival was carried out between wild type (WT) and transgenic mice at three postnatal time points (P80, P140, and P245). Retinal function was assessed at P245 by ERG and included an ultraviolet flicker stimulus to isolate S-cone function. Chromosomal mapping by FISH and high-resolution mapping on DNA fibers (Fiber-FISH) were performed to identify the location of the transgenic insertion. Results. GFP expression was largely absent in S-cones. Cone numbers were significantly reduced in OPN1LW-EGFP mice at all time points compared to WT, with cone loss independent of GFP expression. Anatomic loss correlated with a functional deficit in dark- and light-adapted ERG responses, including a reduction in UV-flicker response, confirming the degeneration of S-cones. The phenotype of heterozygote mice was slightly less severe than in homozygotes, consistent with a dominantly inherited cone dystrophy. The transgenic insertion mapped to a specific region on chromosome 10 orthologous with loci for progressive bifocal chorioretinal atrophy and North Carolina macular dystrophy on human chromosome 6. Conclusions. Cone loss is global in OPN1LW-EGFP mice and is independent of GFP expression. The mechanism underlying the degeneration remains elusive; however, disruption of loci associated with dominantly inherited retinal degenerations in humans makes this mouse of great interest. PMID:21705682

  11. Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy.

    Science.gov (United States)

    Lipinski, Daniel M; Yusuf, Mohammed; Barnard, Alun R; Damant, Christopher; Charbel Issa, Peter; Singh, Mandeep S; Lee, Edward; Davies, Wayne L; Volpi, Emanuela V; MacLaren, Robert E

    2011-08-22

    PURPOSE. To characterize anatomically and functionally the retinal degeneration observed in a transgenic mouse line (OPN1LW-EGFP) expressing enhanced green fluorescent protein (EGFP) in a subpopulation of cone photoreceptors, and to map the location of the transgenic insertion. METHODS. An anatomic comparison of cone survival was carried out between wild type (WT) and transgenic mice at three postnatal time points (P80, P140, and P245). Retinal function was assessed at P245 by ERG and included an ultraviolet flicker stimulus to isolate S-cone function. Chromosomal mapping by FISH and high-resolution mapping on DNA fibers (Fiber-FISH) were performed to identify the location of the transgenic insertion. RESULTS. GFP expression was largely absent in S-cones. Cone numbers were significantly reduced in OPN1LW-EGFP mice at all time points compared to WT, with cone loss independent of GFP expression. Anatomic loss correlated with a functional deficit in dark- and light-adapted ERG responses, including a reduction in UV-flicker response, confirming the degeneration of S-cones. The phenotype of heterozygote mice was slightly less severe than in homozygotes, consistent with a dominantly inherited cone dystrophy. The transgenic insertion mapped to a specific region on chromosome 10 orthologous with loci for progressive bifocal chorioretinal atrophy and North Carolina macular dystrophy on human chromosome 6. CONCLUSIONS. Cone loss is global in OPN1LW-EGFP mice and is independent of GFP expression. The mechanism underlying the degeneration remains elusive; however, disruption of loci associated with dominantly inherited retinal degenerations in humans makes this mouse of great interest.

  12. Posterior Pole Retinal Detachment Due to a Macular Hole in a Patient with a Boston Keratoprosthesis.

    Science.gov (United States)

    Gologorsky, Daniel; Williams, Basil K; Flynn, Harry W

    2017-04-01

    To describe the clinical course of a patient with a Boston Keratoprosthesis type I who developed a localized posterior pole retinal detachment secondary to a macular hole. A 73-year-old patient with a Boston Keratoprosthesis developed a localized posterior pole retinal detachment secondary to a macular hole. The retinal detachment was repaired with a 23-gauge pars plana vitrectomy, membrane peel, fluid-air exchange and 18% C3F8. Retinal reattachment was achieved but the macular hole remained open. A posterior pole retinal detachment secondary to a macular hole can be repaired using standard techniques despite the limited view through a Boston Keratoprosthesis.

  13. [Cystoid macular oedema after fingolimod treatment in multiple sclerosis].

    Science.gov (United States)

    Asensio-Sánchez, V M; Trujillo-Guzmán, L; Ramoa-Osorio, R

    2014-03-01

    A woman, treated with immunomodulatory and immunosuppressive drugs for multiple sclerosis, developed macular oedema 4 months after oral fingolimod administration. The patient was previously seen by an ophthalmologist, with a normal anterior segment and funduscopic examination. Four months after the treatment she referred to decreased visual acuity in both eyes. The funduscopic and OCT examination now revealed cystoid macular oedema (CME). Attention to visual changes and periodic funduscopic examinations are an important part of monitoring while using fingolimod. In our patient early recognition and discontinuation of fingolimod did not result in resolution of the CME. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  14. Grid pattern Argon Laser photocoagulation for diabetic diffuse macular edema

    Directory of Open Access Journals (Sweden)

    Karkhane R

    1998-05-01

    Full Text Available Purpose: to determine the effect of Grid pattern laser photocoagulation on diabetic diffuse macular edema with assessment of visual outcome. Patients & Methods: The author reviewed the medical records of 84 eyes of 62 patients with diabetic diffuse macular edema treated with Grid pattern green Argon laser photocoagulation in Farabi Eye Hospital between the years 1992-1995, the follow-up period was 16-48 months (average 24.55±6.42, median 28 mounths. Results: Visual acuity was improved in 11.9%; unchanged in 65.4% and worsened in 22.7% of eyes. Conclusion: In assessing long-term visual outcome, Grid laser photocoagulation is an effective modality in maintaining or improving visual acuity.

  15. Intravitreal ranibizumab for diabetic macular oedema in previously vitrectomized eyes

    DEFF Research Database (Denmark)

    Laugesen, Caroline Schmidt; Ostri, Christoffer; Brynskov, Troels

    2017-01-01

    PURPOSE: There is little information about the efficacy of intravitreal vascular endothelial growth factor (VEGF) inhibition in vitrectomized eyes. This study aimed to evaluate the efficacy of anti-VEGF (ranibizumab) on diabetic macular oedema in previously vitrectomized eyes. METHODS: A nationwide...... retrospective review of medical records from 2010 to 2013. RESULTS: We identified 33 previously vitrectomized eyes in 28 patients treated with ranibizumab injections for diabetic macular oedema. Median follow-up was 323 days (interquartile range 72-1404 days). Baseline mean visual acuity was 0.57 logMAR (95% CI......). The mean reduction in CFT was 14% (95% CI 4-24%, p = 0.01). Sixteen eyes (48.5%) became devoid of oedema on the last OCT scan. Despite the significant reduction in CFT, the visual acuity remained unchanged. CONCLUSION: Intravitreal ranibizumab can be effective in previously vitrectomized eyes with diabetic...

  16. Localized bi-nasal macular edema in optic chiasmal syndrome

    Directory of Open Access Journals (Sweden)

    Alejandro J Lavaque

    2013-01-01

    Full Text Available A 28-year-old healthy male complaining of vision loss in his right eye was discovered to have localized bi-nasal macular edema in the presence of a pituitary adenoma. The presence of a junctional scotoma composed by a central scotoma in the right eye associated with superior temporal quadrantanopia in the fellow eye was seen. The pattern detected in the visual field suggested the presence of an expansive mass at the level of the optic chiasm. Optical coherence tomography findings also revealed subtle macular thickness beyond normal in the superior and nasal quadrants of both maculae. This report illustrates the importance of suspecting a pituitary adenoma in the light of uncharacteristic retinal alterations.

  17. Fingolimod Associated Bilateral Cystoid Macular Edema—Wait and See?

    Science.gov (United States)

    Pul, Refik; Osmanovic, Alma; Schmalstieg, Holger; Pielen, Amelie; Pars, Kaweh; Schwenkenbecher, Philipp; Sühs, Kurt Wolfram; Yildiz, Özlem; Frank, Benedikt; Stangel, Martin; Skripuletz, Thomas

    2016-01-01

    Fingolimod 0.5-mg once-daily is an approved therapy for patients with relapsing–remitting multiple sclerosis (MS). Several pivotal and real-world studies have demonstrated that fingolimod is associated with the development of macular edema (ME). Herein, we present a case of a diabetic MS patient who developed severe bilateral ME during fingolimod treatment. By means of this case study we provide a detailed review about fingolimod associated macular edema (FAME), its current incidence with or without diabetes mellitus, and previous therapy attempts and outcomes in MS patients. Intravitreal administration of antibodies raised against vascular endothelial growth factor A (VEGF-A) has not yet been used in the management of FAME, however, the excellent therapeutic response in our patient may justify the use of anti-VEGF-A agents in combination with cessation of fingolimod to achieve fast resolution of FAME and to prevent visual deficits, particularly in bilateral FAME. PMID:27983657

  18. Fingolimod Associated Bilateral Cystoid Macular Edema—Wait and See?

    Directory of Open Access Journals (Sweden)

    Refik Pul

    2016-12-01

    Full Text Available Fingolimod 0.5-mg once-daily is an approved therapy for patients with relapsing–remitting multiple sclerosis (MS. Several pivotal and real-world studies have demonstrated that fingolimod is associated with the development of macular edema (ME. Herein, we present a case of a diabetic MS patient who developed severe bilateral ME during fingolimod treatment. By means of this case study we provide a detailed review about fingolimod associated macular edema (FAME, its current incidence with or without diabetes mellitus, and previous therapy attempts and outcomes in MS patients. Intravitreal administration of antibodies raised against vascular endothelial growth factor A (VEGF-A has not yet been used in the management of FAME, however, the excellent therapeutic response in our patient may justify the use of anti-VEGF-A agents in combination with cessation of fingolimod to achieve fast resolution of FAME and to prevent visual deficits, particularly in bilateral FAME.

  19. Bevacizumab in macular serous detachments associated with Waldenstrom's macroglobulinemia.

    Science.gov (United States)

    Kapoor, Kapil G; Wagner, Maxwell S

    2015-01-01

    Waldenström's macroglobulinemia (WM) is a lymphoproliferative B-cell disorder characterized by monoclonal proliferation of immunoglobulin M. WM can be associated with impressive hyperviscosity retinopathy and a unique tendency to develop serous macular detachments. These have been described as immunogammopathy maculopathy and portend a poor visual prognosis, often persisting despite multiple plasmapheresis treatments. In this case report, the authors demonstrate the accelerated resolution of hyperviscosity retinopathy and associated macular detachments in a patient with WM with marked visual improvement. This case report serves to raise awareness of the potential role of anti-vascular endothelial growth factor modulation in the treatment of patients with hyperviscosity retinopathy associated with WM. Copyright 2015, SLACK Incorporated.

  20. Age-related macular degeneration: epidemiology and optimal treatment

    DEFF Research Database (Denmark)

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

    2002-01-01

    Age-related macular degeneration (AMD) is a common macular disease affecting elderly people in the Western world. It is characterised by the appearance of drusen in the macula, accompanied by choroidal neovascularisation (CNV) or geographic atrophy. The disease is more common in Caucasian...... individuals than in pigmented races. In predominantly Caucasian populations, the age-standardised prevalence of AMD in at least one eye is 7760 cases per million. The age-standardised cumulated 1-year incidence of AMD in at least one eye is 1051 cases per million individuals. AMD is the most important single...... cause of blindness among Caucasian individuals in developed countries. Blindness resulting from AMD rarely occurs before age 70, and most cases occur after age 80. The age-standardised 1-year incidence of legal blindness resulting from AMD is 212 cases per million. Two-thirds of AMD cases have CNV...

  1. Wearable diagnostic system for age-related macular degeneration.

    Science.gov (United States)

    Mohaghegh, N; Zadeh, E Ghafar; Magierowski, S

    2016-08-01

    This paper presents a novel head-mounted point-of-care diagnostic system for detection and continuous monitoring of Age-related Macular Degeneration (AMD). This wearable embedded open-source platform enables accurate monitoring of AMD by taking advantage of multiple standard graphical interface techniques such as Amsler Grid, Threshold Amsler Grid, Macular Computerized Psychophysical Test and Preferential Hyperacuity Perimeter (PHP). Here, we describe the proposed multi-Grid or so-called NGRID software and elaborate on the hardware prototype. This prototype includes a commercially available Oculus HMD incorporated with a single board computer. As the first step towards a fully integrated wearable system, this paper successfully proves the functionality of head-mounted graphical interface device ready for a live demonstration. Participants can experience this device and take a 10-minute AMD eye-exam. Furthermore, NGRID has been approved and permitted for an in-hospital clinical trial.

  2. The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease.

    Science.gov (United States)

    Minnerop, Martina; Weber, Bernd; Schoene-Bake, Jan-Christoph; Roeske, Sandra; Mirbach, Sandra; Anspach, Christian; Schneider-Gold, Christiane; Betz, Regina C; Helmstaedter, Christoph; Tittgemeyer, Marc; Klockgether, Thomas; Kornblum, Cornelia

    2011-12-01

    Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T(1)/T(2)/diffusion-weighted). Voxel-based morphometry and diffusion tensor imaging with tract-based spatial statistics were applied for voxel-wise analysis of cerebral grey and white matter affection (P(corrected) brain changes with clinical and neuropsychological data. White matter lesions rated visually were more prevalent and severe in myotonic dystrophy type 1 compared with controls, with frontal white matter most prominently affected in both disorders, and temporal lesions restricted to myotonic dystrophy type 1. Voxel-based morphometry analyses demonstrated extensive white matter involvement in all cerebral lobes, brainstem and corpus callosum in myotonic dystrophy types 1 and 2, while grey matter decrease (cortical areas, thalamus, putamen) was restricted to myotonic dystrophy type 1. Accordingly, we found more prominent white matter affection in myotonic dystrophy type 1 than myotonic dystrophy type 2 by diffusion tensor imaging. Association fibres throughout the whole brain, limbic system fibre tracts, the callosal body and projection fibres (e.g. internal/external capsules) were affected in myotonic dystrophy types 1 and 2. Central motor pathways were exclusively impaired in myotonic dystrophy type 1. We found mild executive and attentional deficits in our patients when neuropsychological tests were corrected for manual motor dysfunctioning. Regression analyses revealed associations of white matter affection with several clinical parameters in both disease entities, but not with neuropsychological performance. We showed that depressed mood and fatigue were more prominent in patients with myotonic dystrophy type 1

  3. Bilateral macular injury caused by a femtosecond laser.

    Science.gov (United States)

    de Juan-Marcos, L; Cañete-Campos, C; Cruz-González, F; López-Corral, A; Hernández-Galilea, E

    2014-11-01

    We describe the case of a 35-year-old man who arrived in the Emergency Department with bilateral macular injury caused by accidental exposure to an industrial femtosecond laser. Workers operating industrial lasers must protect their eyes properly when handling these devices. Otherwise, retina damage may occur which usually is recoverable. However, sometimes this damage causes permanent visual loss. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  4. Complement pathway biomarkers and age-related macular degeneration

    Science.gov (United States)

    Gemenetzi, M; Lotery, A J

    2016-01-01

    In the age-related macular degeneration (AMD) ‘inflammation model', local inflammation plus complement activation contributes to the pathogenesis and progression of the disease. Multiple genetic associations have now been established correlating the risk of development or progression of AMD. Stratifying patients by their AMD genetic profile may facilitate future AMD therapeutic trials resulting in meaningful clinical trial end points with smaller sample sizes and study duration. PMID:26493033

  5. Smoking and Age-Related Macular Degeneration: Review and Update

    Directory of Open Access Journals (Sweden)

    Sara Velilla

    2013-01-01

    Full Text Available Age-related macular degeneration (AMD is one of the main socioeconomical health issues worldwide. AMD has a multifactorial etiology with a variety of risk factors. Smoking is the most important modifiable risk factor for AMD development and progression. The present review summarizes the epidemiological studies evaluating the association between smoking and AMD, the mechanisms through which smoking induces damage to the chorioretinal tissues, and the relevance of advising patients to quit smoking for their visual health.

  6. Macular structural characteristics in children with Down syndrome.

    Science.gov (United States)

    O'Brien, Scott; Wang, Jingyun; Smith, Heather A; Donaldson, Dana L; Haider, Kathryn M; Roberts, Gavin J; Sprunger, Derek T; Neely, Daniel E; Plager, David A

    2015-12-01

    This prospective study aimed to investigate macular structural characteristics in children with Down syndrome compared to those in healthy children. Two groups of children (aged 6-16 years) were enrolled: children with Down syndrome (Down syndrome group, N = 17) and age-matched healthy children who were full-term at birth (control group, N = 18). Eligible patients had visual acuity of 20/100 or better and gestational age at birth of ≥ 36 weeks. Fourier domain optical coherence tomography was used for imaging of the macular retinal structure, and retinal volume scans centered on the macula were obtained. Central subfield thickness (CST) and the thickness of the inner and outer retinal layer regions were analyzed using the instrument's segmentation software. The analysis of data is provided for the right eye only, since there was no significant difference between right and left eyes for either the Down syndrome or control groups. Children in the Down syndrome group generally had identifiable retinal structure. The CST for the full retina and inner and outer retinal layers were all significantly greater in the Down syndrome group than the control group (independent t test, all p Down syndrome had macular thickness outside the normal range. Visual acuity in the Down syndrome group was not directly correlated with increased CST (t = 1.288, r = 0.326, p = 0.202). On average, CST in the Down syndrome group was greater than that in the control group, suggesting abnormal macular development in children with Down syndrome.

  7. Results of macular hole surgery combined with PEA and IOL.

    Science.gov (United States)

    Kumagai, K; Ogino, N

    2001-09-01

    We evaluated the factors affecting closure and postoperative visual acuity, as well as complications among idiopathic macular hole surgery cases comprising 631 eyes in 576 patients. Almost all the surgeries were combined with simultaneous intraocular lens surgery (triple surgery). In some cases, the standard method was accompanied by internal limiting membrane peeling around the macular hole or abrasion of retinal pigment epithelium at the base of the macular holes. We found that male gender and short eye axial length were associated with closure and postoperative visual acuity. Although the frequency of peripheral retinal tears during surgery was high, the frequency of postoperative retinal detachment was less than 2%. The reopening frequency was about 5% among all cases, and was highest among eyes that underwent the abrasion method. There were no other significant complications. Internal limiting membrane peeling is effective for treatment of cases with unfavorable preoperative conditions. However, the standard method is sufficiently effective for cases with favorable preoperative conditions. Further analysis is required to evaluate postoperative visual function by methods other than visual acuity. Further study of internal limiting membrane peeling, as a treatment alternative, is also required.

  8. Intraocular lens iris fixation. Clinical and macular OCT outcomes

    Directory of Open Access Journals (Sweden)

    Garcia-Rojas Leonardo

    2012-10-01

    Full Text Available Abstract Background To assess the efficacy, clinical outcomes, visual acuity (VA, incidence of adverse effects, and complications of peripheral iris fixation of 3-piece acrylic IOLs in eyes lacking capsular support. Thirteen patients who underwent implantation and peripheral iris fixation of a 3-piece foldable acrylic PC IOL for aphakia in the absence of capsular support were followed after surgery. Clinical outcomes and macular SD-OCT (Cirrus OCT; Carl Zeiss Meditec, Germany were analyzed. Findings The final CDVA was 20/40 or better in 8 eyes (62%, 20/60 or better in 12 eyes (92%, and one case of 20/80 due to corneal astigmatism and mild persistent edema. No intraoperative complications were reported. There were seven cases of medically controlled ocular hypertension after surgery due to the presence of viscoelastic in the AC. There were no cases of cystoid macular edema, chronic iridocyclitis, IOL subluxation, pigment dispersion, or glaucoma. Macular edema did not develop in any case by means of SD-OCT. Conclusions We think that this technique for iris suture fixation provides safe and effective results. Patients had substantial improvements in UDVA and CDVA. This surgical strategy may be individualized however; age, cornea status, angle structures, iris anatomy, and glaucoma are important considerations in selecting candidates for an appropriate IOL fixation method.

  9. Changes of macular thickness in HIV positive patients using OCT

    Directory of Open Access Journals (Sweden)

    Shang Li

    2014-10-01

    Full Text Available AIM: To assess the changes of macular thickness of acquire immunodeficiency syndrome(AIDSpatients. METHODS: The study based on the data analysis of 38 human immunodeficiency virus(HIVpositive patients(64 eyes. According to CD4 count and whether cytomegalovirus retinitis(CMVRhappened, the patients were divided into 3 groups. Group A included 16 patients(32 eyes, in which CD4 count was 50cells/μL and CMVR did not happen. Group C included 12 patients(12 eyes, in which CD4 count was RESULTS: The mean foveal thicknesses in groups A, B, C and D were 254.03±15.63μm, 263.11±17.12μm, 304.50±50.62μm and 257.64±8.54μm in order. Compared with foveal thickness in each group, there were significant differences in general(F=12.933, P=0.000. The mean foveal thickness in groups CMVR increased, which was of significant difference(P=0.000, compared with other groups.CONCLUSION: CMVR can impair the structure and function of macular, which then seriously affects the visual function of patients. It's helpful to understand the progress and prognosis of CMVR disease by observing macular structure with OCT in early time.

  10. Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy Types 1 and 2.

    Science.gov (United States)

    Mair, Dorothea; Huegens-Penzel, Monika; Kress, Wolfram; Roth, Christian; Ferbert, Andreas

    2017-01-01

    Facioscapulohumeral muscular dystrophy (FSHD) presents with 2 genetically distinct types. We describe for the first time the MRI patterns of leg muscle involvement in type 2 and compare it with type 1. The intramuscular fat content was assessed on lower extremity axial T1-weighted MRI scans in 6 FSHD1 and 5 FSHD2 patients. Overall, the muscle involvement profile did not differ substantially between FSHD1 and FSHD2. In the thigh, the dorsomedial compartment including the semimembranosus, semitendinosus and adductor magnus was the most affected. The quadriceps was mostly spared, but isolated involvement of the rectus femoris was common. Fat infiltration in the distal soleus and the medial gastrocnemius with sparing of the lateral gastrocnemius was a common finding; involvement of the tibialis anterior was less frequent. A proximal-to-distal increase in fat content was frequently present in some muscles. Muscle involvement appears to be independent of type, confirming a similar pathophysiological pathway in FSHD1 and FSHD2. © 2016 S. Karger AG, Basel.

  11. Muscular dystrophy meets protein biochemistry, the mother of invention.

    Science.gov (United States)

    Funk, Steven D; Miner, Jeffrey H

    2017-03-01

    Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ability to polymerize within the muscle fiber BM. Defects in this BM lead to muscle fiber damage from the force of contraction. In this issue of the JCI, McKee and colleagues use a laminin polymerization-competent, designer chimeric BM protein in vivo to restore function of a polymerization-defective laminin, leading to normalized muscle structure and strength in a mouse model of MDC1A. Delivery of such a protein to patients could ameliorate many aspects of their disease.

  12. Limb-girdle muscular dystrophies in India: A review

    Directory of Open Access Journals (Sweden)

    Satish V Khadilkar

    2017-01-01

    Full Text Available Limb-girdle muscular dystrophies (LGMDs are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.

  13. Limb-girdle Muscular Dystrophies in India: A Review

    Science.gov (United States)

    Khadilkar, Satish V.; Faldu, Hinaben Dayalal; Patil, Sarika Bapuso; Singh, Rakesh

    2017-01-01

    Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India. PMID:28615891

  14. Limb girdle muscular dystrophy due to mutations in POMT2

    DEFF Research Database (Denmark)

    Østergaard, Sofie Thurø; Johnson, Katherine; Stojkovic, Tanya

    2018-01-01

    BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four...... of the left hemisphere in a third patient. Most affected muscle groups were hip and knee flexors and extensors on strength testing. On MRI, most affected muscles were hamstrings followed by paraspinal and gluteal muscles. The 12 patients in our cohort carried 11 alleles with known mutations, whereas 11 novel...... mutations accounted for the remaining 13 alleles. CONCLUSION: We describe the first cohort of patients with LGMD2N and show that unlike other LGMD types, all patients had cognitive impairment. Primary muscle involvement was found in hamstring, paraspinal and gluteal muscles on MRI, which correlated well...

  15. Muscular dystrophies: key elements for everyday diagnosis and management

    Directory of Open Access Journals (Sweden)

    Alberto Palladino

    2013-12-01

    Full Text Available Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life. In recent years, cardiac involvement has been observed in a growing number of genetic muscle diseases, and considerable progress has been made in understanding the relationships between disease skeletal muscle and cardiac muscle disease. This review will focus on the skeletal muscle diseases most commonly associated with cardiac complications that can be diagnosed by echocardiography, such as dystrophinopathies including Duchenne (DMD and Becker (BMD muscular dystrophies, cardiomyopathy of DMD/BMD carriers and X-L dilated cardiomyopathy.

  16. Challenges to oligonucleotides-based therapeutics for Duchenne muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Goyenvalle Aurélie

    2011-02-01

    Full Text Available Abstract Antisense oligonucleotides are short nucleic acids designed to bind to specific messenger RNAs in order to modulate splicing patterns or inhibit protein translation. As such, they represent promising therapeutic tools for many disorders and have been actively developed for more than 20 years as a form of molecular medicine. Although significant progress has been made in developing these agents as drugs, they are yet not recognized as effective therapeutics and several hurdles remain to be overcome. Within the last few years, however, the prospect of successful oligonucleotides-based therapies has moved a step closer, in particular for Duchenne muscular dystrophy. Clinical trials have recently been conducted for this myopathy, where exon skipping is being used to achieve therapeutic outcomes. In this review, the recent developments and clinical trials using antisense oligonucleotides for Duchenne muscular dystrophy are discussed, with emphasis on the challenges ahead for this type of therapy, especially with regards to delivery and regulatory issues.

  17. Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.

    Science.gov (United States)

    Govoni, Alessandra; Magri, Francesca; Brajkovic, Simona; Zanetta, Chiara; Faravelli, Irene; Corti, Stefania; Bresolin, Nereo; Comi, Giacomo P

    2013-12-01

    Muscular dystrophy is a heterogeneous group of genetic disorders characterised by progressive muscle tissue degeneration. No effective treatment has been discovered for these diseases. Preclinical and clinical studies aimed at the development of new therapeutic approaches have been carried out, primarily in subjects affected with dystrophinopathies (Duchenne and Becker muscular dystrophy). In this review, we outline the current therapeutic approaches and past and ongoing clinical trials, highlighting both the advantages and limits of each one. The experimental designs of these trials were based on different rationales, including immunomodulation, readthrough strategies, exon skipping, gene therapy, and cell therapy. We also provide an overview of available outcome measures, focusing on their reliability in estimating meaningful clinical improvement in order to aid in the design of future trials. This perspective is extremely relevant to the field considering the recent development of novel therapeutic approaches that will result in an increasing number of clinical studies over the next few years.

  18. The importance of genetic diagnosis for Duchenne muscular dystrophy.

    Science.gov (United States)

    Aartsma-Rus, Annemieke; Ginjaar, Ieke B; Bushby, Kate

    2016-03-01

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  19. Clinical diagnosis of high myopia with cone dystrophy

    Directory of Open Access Journals (Sweden)

    Qing-He Li

    2014-04-01

    Full Text Available High myopia associated with cone dystrophy is relatively rare in clinical practice. Because the two diseases have a certain genetic predisposition, with the disease developed, clinical examination and clinical symptoms have some similarities, one disease diagnosis is easily confused or masked by the other diagnosis, especially in the face of patients with high myopia associated abnormalities, we should carefully screen abnormal visual function of its own or combined cone dystrophy diagnosis. In addition, the development of the disease may mutually reinforce, aggravate the symptoms of each other, which is likely to cause mission or misdiagnosis, or delay the proper treatment. Therefore, it is clinically difficult to correct and comprehensively and timely diagnosis.

  20. [Diagnosis and natural history of Duchenne muscular dystrophy].

    Science.gov (United States)

    Desguerre, I; Laugel, V

    2015-12-01

    Duchenne myopathy is today the most frequently encountered progressive muscular dystrophy in children, with an inexorable, progressive development to death in the third decade. Improvement in survival is related to improvement in orthopaedic management, early screening of cardiac and respiratory complications, but no curative therapy can be applied today beyond recent pharmacogenetic advances. This diagnosis is raised with evidence of proximal muscular deficit beginning after an interval free of symptoms lasting from 1 to several years. Muscular dystrophy's mechanism is suggested by a significant increase in CK (creatine kinase) and confirmed by muscle biopsy. The clinical motor and cognitive heterogeneity of this disease and its natural history need to be well known because it conditions future therapeutic trials. Identification of outcome measures such as the 6-minute walk test, the MFM score, manual muscle testing musculaire, or biomarkers is indispensable for patient follow-up and collaborative studies. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  1. Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy

    DEFF Research Database (Denmark)

    Andersen, Grete; Prahm, Kira P; Dahlqvist, Julia R

    2015-01-01

    OBJECTIVE: To investigate the effect of regular aerobic training and postexercise protein-carbohydrate supplementation in patients with facioscapulohumeral muscular dystrophy (FSHD). METHODS: In this randomized, double-blind, placebo-controlled parallel study, we randomized untrained men (n = 21)...... not add any further improvement to training effects alone. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that regular aerobic training with or without postexercise protein-carbohydrate supplementation improves fitness and workload in patients with FSHD....

  2. Sarcopenia and sarcopenic obesity in patients with muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Luciano eMerlini

    2014-10-01

    Full Text Available Aging sarcopenia and muscular dystrophy are two conditions characterized by lower skeletal muscle quantity, lower muscle strength, and lower physical performance. Aging is associated with a peculiar alteration in body composition called sarcopenic obesity characterized by a decrease in lean body mass and increase in fat mass. To evaluate the presence of sarcopenia and obesity in a cohort of adult patients with muscular dystrophy we have used the measurement techniques considered golden standard for sarcopenia that is for muscle mass dual energy X-ray absorptiometry (DXA, for muscle strength hand held dynamometry, and for physical performance gait speed. The study involved 14 adult patients with different types of muscular dystrophy. We were able to demonstrate that all patient were sarcopenic-obese. We showed in fact that all were sarcopenic based on appendicular lean, fat & bone free, mass index (ALMI. In addition all resulted obese according to the % of body fat determined by DXA in contrast with their body mass index ranging from underweight to obese. Skeletal muscle mass determined by DXA was markedly reduced in all patients and correlated with residual muscle strength determined by hand held dynamometry, and physical performances determined by gait speed and respiratory function. Finally we showed that ALMI was the best linear explicator of muscle strength and physical function. Altogether, our study suggest the relevance of a proper evaluation of body composition in muscular dystrophy and we propose to use, both in research and practice, the measurement techniques that has already been demonstrated effective in aging sarcopenia.

  3. NAD+ biosynthesis ameliorates a zebrafish model of muscular dystrophy.

    Directory of Open Access Journals (Sweden)

    Michelle F Goody

    Full Text Available Muscular dystrophies are common, currently incurable diseases. A subset of dystrophies result from genetic disruptions in complexes that attach muscle fibers to their surrounding extracellular matrix microenvironment. Cell-matrix adhesions are exquisite sensors of physiological conditions and mediate responses that allow cells to adapt to changing conditions. Thus, one approach towards finding targets for future therapeutic applications is to identify cell adhesion pathways that mediate these dynamic, adaptive responses in vivo. We find that nicotinamide riboside kinase 2b-mediated NAD+ biosynthesis, which functions as a small molecule agonist of muscle fiber-extracellular matrix adhesion, corrects dystrophic phenotypes in zebrafish lacking either a primary component of the dystrophin-glycoprotein complex or integrin alpha7. Exogenous NAD+ or a vitamin precursor to NAD+ reduces muscle fiber degeneration and results in significantly faster escape responses in dystrophic embryos. Overexpression of paxillin, a cell adhesion protein downstream of NAD+ in this novel cell adhesion pathway, reduces muscle degeneration in zebrafish with intact integrin receptors but does not improve motility. Activation of this pathway significantly increases organization of laminin, a major component of the extracellular matrix basement membrane. Our results indicate that the primary protective effects of NAD+ result from changes to the basement membrane, as a wild-type basement membrane is sufficient to increase resilience of dystrophic muscle fibers to damage. The surprising result that NAD+ supplementation ameliorates dystrophy in dystrophin-glycoprotein complex- or integrin alpha7-deficient zebrafish suggests the existence of an additional laminin receptor complex that anchors muscle fibers to the basement membrane. We find that integrin alpha6 participates in this pathway, but either integrin alpha7 or the dystrophin-glycoprotein complex is required in conjunction

  4. Genome Editing Gene Therapy for Duchenne Muscular Dystrophy

    OpenAIRE

    Hotta, Akitsu

    2015-01-01

    Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by loss of function of the dystrophin gene on the X chromosome. Gene augmentation of dystrophin is challenging due to the large size of the dystrophin cDNA. Emerging genome editing technologies, such as TALEN and CRISPR-Cas9 systems, open a new erain the restoration of functional dystrophin and are a hallmark of bona fide gene therapy. In this review, we summarize current genome editing approaches, properties of target cell...

  5. Gastrointestinal Dysfunction in Patients with Duchenne Muscular Dystrophy

    OpenAIRE

    Lo Cascio, Christian M.; Goetze, Oliver; Latshang, Tsogyal D.; Bluemel, Sena; Frauenfelder, Thomas; Bloch, Konrad E.

    2016-01-01

    BACKGROUND In adult patients with Duchenne muscular dystrophy (DMD) life-threatening constipation has been reported. Since gastrointestinal function in DMD has not been rigorously studied we investigated objective and subjective manifestations of gastrointestinal disturbances in DMD patients. METHODS In 33 patients with DMD, age 12-41 years, eating behavior and gastrointestinal symptoms were evaluated by questionnaires. Gastric emptying half time (T1/2) and oro-cecal transit time (OCTT) we...

  6. Cognitive and personality function in myotonic muscular dystrophy.

    OpenAIRE

    Bird, T. D.; Follett, C; GRIEP, E

    1983-01-01

    Twenty-nine patients with myotonic dystrophy from 14 families were tested with the Wechsler and Shipley measures of cognitive function. Forty-one per cent of the subjects had little or no physical handicap. Approximately one-third had low Wechsler scores, whereas 7% had relatively high scores. There was a trend for affected females to have poorer cognitive function than males. Limited cognitive ability correlated with maternal inheritance of the gene and severe physical handicap, but there we...

  7. Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management

    OpenAIRE

    TOUSSAINT, MICHEL; Davidson, Zoe; Bouvoie, Veronique; Evenepoel, Nathalie; Haan, Jurn; Soudon, Philippe

    2016-01-01

    Abstract Purpose: Duchenne muscular dystrophy (DMD) is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing (dysphagia). Recent studies on dysphagia in DMD clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little guidance is available for its management. This paper aims to provide a step-by-step algorithm to fac...

  8. A bedside measure of body composition in Duchenne muscular dystrophy.

    Science.gov (United States)

    Elliott, Sarah A; Davidson, Zoe E; Davies, Peter S W; Truby, Helen

    2015-01-01

    In clinical practice, monitoring body composition is a critical component of nutritional assessment and weight management in boys with Duchenne muscular dystrophy. We aimed to evaluate the accuracy of a simple bedside measurement tool for body composition, namely bioelectrical impedance analysis, in boys with Duchenne muscular dystrophy. Measures of fat-free mass were determined using a bioelectrical impedance analysis machine and compared against estimations obtained from a reference body composition model. Additionally, the use of raw impedance values was analyzed using three existing predictive equations for the estimation of fat-free mass. Accuracy of bioelectrical impedance analysis was assessed by comparison against the reference model by calculation of biases and limits of agreement. Body composition was measured in 10 boys with Duchenne muscular dystrophy, mean age 9.01 ± 2.34 years. The bioelectrical impedance analysis machine values of fat-free mass were on average 2.3 ± 14.1 kg higher than reference values. Limits of agreement (based on 95% confidence interval of the mean) were -7.4 to 2.9 kg. There was a significant correlation between the mean fat-free mass and difference in fat-free mass between the bioelectrical impedance analysis machine and the reference model (r = -0.86; P = 0.02) suggesting that the bias was not consistent across the range of measurements. The most accurate predictive equation for the estimation of fat-free mass using raw impedance values was the equation by Pietrobelli et al. (mean difference, -0.7 kg; 95% limits of agreement, -3.5 to 2.0 kg). In a clinical setting, where a rapid assessment of body composition is advantageous, the use of raw impedance values, combined with the equation by Pietrobelli et al., is recommended for the accurate estimation of fat-free mass, in boys with Duchenne muscular dystrophy. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Corticosteroid Treatment Impact on Spinal Deformity in Duchenne Muscular Dystrophy

    OpenAIRE

    Sanzarello, Ilaria; Merlini, Luciano; Traina, Francesco; Rosa, Michele Attilio; Faldini, Cesare

    2014-01-01

    Duchenne muscular dystrophy is a progressive disease with loss of ambulation at around 9-10 years of age, followed, if untreated, by development of scoliosis, respiratory insufficiency, and death in the second decade of life. This review highlights the natural history of the disease, in particular, with regard to the development of the spinal deformity and how this complication has been modified by surgical interventions and overall by corticosteroid treatment. The beneficial effect of cortic...

  10. Axonal dystrophy in the brain of mice with Sanfilippo syndrome.

    Science.gov (United States)

    Beard, Helen; Hassiotis, Sofia; Gai, Wei-Ping; Parkinson-Lawrence, Emma; Hopwood, John J; Hemsley, Kim M

    2017-09-01

    Axonal dystrophy has been described as an early pathological feature of neurodegenerative disorders including Alzheimer's disease and amyotrophic lateral sclerosis. Axonal inclusions have also been reported to occur in several neurodegenerative lysosomal storage disorders including Mucopolysaccharidosis type IIIA (MPS IIIA; Sanfilippo syndrome). This disorder results from a mutation in the gene encoding the lysosomal sulphatase sulphamidase, and as a consequence heparan sulphate accumulates, accompanied by secondarily-stored gangliosides. The precise basis of symptom generation in MPS IIIA has not been elucidated, however axonal dystrophy may conceivably lead to impaired vesicular trafficking, neuronal dysfunction and/or death. We have utilised a faithful murine model of MPS IIIA to determine the spatio-temporal profile of neuronal inclusion formation and determine the effect of restoring normal lysosomal function. Dopaminergic (tyrosine hydroxylase-positive), cholinergic (choline acetyltransferase-positive) and GABAergic (glutamic acid decarboxylase65/67-positive) neurons were found to exhibit axonal dystrophy in MPS IIIA mouse brain. Axonal lesions present by ~seven weeks of age were Rab5-positive but lysosomal integral membrane protein-2 negative, suggesting early endosomal involvement. By 9-12-weeks of age, immunoreactivity for the autophagosome-related proteins LC3 and p62 and the proteasomal subunit 19S was noted in the spheroidal structures, together with wildtype α-synuclein, phosphorylated Thr-181 Tau and amyloid precursor protein, indicative of impaired axonal trafficking. Sulphamidase replacement reduced but did not abrogate the axonal lesions. Therefore, if axonal dystrophy impairs neuronal activity and ultimately, neuronal function, its incomplete resolution warrants further investigation. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Impending A New Epoch In Duchenne Muscular Dystrophy (DMD) Treatment

    OpenAIRE

    Aijaz Khan

    2017-01-01

    Duchenne muscular dystrophy (DMD) is a disorder related to X-chromosomes that alters 1 in 3500-5600 males which are newly born. Basically illustrated due to the protein known as dystrophin in muscle tissue , that causes continuous catastrophe till death in the 3 decagon of life .The one and only treatment till now which is efficient in lagging the evolution of this ailment is known as corticosteroids, that has been delineated to boost tendon vitality in randomized composed anal...

  12. Comparison and interchangeability of macular thickness measured with Cirrus OCT and Stratus OCT in myopic eyes.

    Science.gov (United States)

    Wang, Geng; Qiu, Kun-Liang; Lu, Xue-Hui; Zhang, Ming-Zhi

    2015-01-01

    To investigate the difference of macular thickness measurements between stratus optical coherence tomography (OCT) and Cirrus OCT (Carl Zeiss Meditec, Dublin, CA, USA) in the same myopic patient and to develop a conversion equation to interchange macular thickness obtained with these two OCT devices. Eighty-nine healthy Chinese adults with spherical equivalent (SE) ranging from -1.13 D to -9.63 D were recruited. The macular thickness was measured by Cirrus OCT and Stratus OCT. The correlation between macular thickness and axial length and the agreement between two OCT measurements were evaluated. A formula was generated to interchange macular thickness obtained with two OCT devices. Average macular thickness measured with Stratus OCT (r=-0.280, P=0.008) and Cirrus OCT (r=-0.224, P=0.034) were found to be negatively correlated with axial length. No statistically significant correlation was found between axial length and central subfield macular thickness (CMT) measured with Stratus OCT (r=0.191, P=0.073) and Cirrus OCT (r=0.169, P=0.113). The mean CMT measured with Cirrus OCT was 53.63±7.94 µm thicker than with Stratus OCT. The formula CMTCirrus OCT=78.328+0.874×CMTStratus OCT was generated to interchange macular thickness obtained with two OCT devices. Macular thickness measured with Cirrus OCT were thicker than with Stratus OCT in myopic eyes. A formula can be used to interchange macular thickness measured with two OCT devices in myopic eyes. Studies with different OCT devices and larger samples are warranted to enable the comparison of macular values measured with different OCT devices.

  13. Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration.

    Science.gov (United States)

    Stasiukonyte, Neringa; Liutkeviciene, Rasa; Vilkeviciute, Alvita; Banevicius, Mantas; Kriauciuniene, Loresa

    2017-01-01

    Age-related macular degeneration is the leading cause of blindness in elderly individuals in developed countries. The etiology and pathophysiology of age-related macular degeneration have not been elucidated yet. Knowing that the main pathological change of age-related macular degeneration is formation of drusen containing about 40% of lipids, there have been attempts to find associations between age-related macular degeneration and genes controlling lipid metabolism. To determine the frequency of CYP2C19 (G681A) Rs4244285 and CYP1A2 (-163C>A) Rs762551 genotypes in patients with age-related macular degeneration. The study enrolled 150 patients with early age-related macular degeneration and 296 age- and gender-matched healthy controls. The genotyping of Rs4244285 and Rs762551 was carried out by using the real-time polymerase chain reaction method. The CYP1A2 (-163C>A) Rs762551 C/C genotype was more frequently detected in patients with age-related macular degeneration than in the control group (32.7% vs. 21.6%, p = 0.011) and was associated with an increased risk of developing early age-related macular degeneration (OR = 1.759, 95% CI: 1.133-2.729; p = 0.012). The CYP1A2 (-163C>A) Rs762551 C/A genotype was more frequently documented in the control group compared with patients with age-related macular degeneration (46.3% vs. 30.7%, p = 0.002) and was associated with a decreased risk of having age-related macular degeneration (OR = 0.580. 95% CI: 0.362-0.929, p = 0.023) in the co-dominant model. The study showed that the CYP1A2 (-163C>A) Rs762551 C/C genotype was associated with an increased risk of age-related macular degeneration.

  14. Complement Factor H 402H Variant and Reticular Macular Disease

    Science.gov (United States)

    Smith, R. Theodore; Merriam, Joanna E.; Sohrab, Mahsa A.; Pumariega, Nicole M.; Barile, Gaetano; Blonska, Anna M.; Haans, Raymond; Madigan, David; Allikmets, Rando

    2013-01-01

    Objective To determine the association of high-risk alleles in the complement factor H (CFH; Y402H, rs1061170) and age-related maculopathy susceptibility (ARMS2; A69S, rs10490924) genes with reticular macular disease (RMD), a major clinical subphenotype of age-related macular degeneration (AMD). Methods Using retinal images from the Columbia Macular Genetics Study, we identified 67 subject individuals with RMD. A comparison group of 64 subjects with AMD without RMD was matched by ethnicity, age, sex, and AMD clinical stage. Results In the RMD group, 53 of 67 subjects (79.1%) were female, the mean age was 83 years, and 47 of 67 (70.1%) had late AMD, with closely matched values in the non-RMD group. The frequencies of the CFH 402H allele were 39.6% in the RMD group (53 of 134 individuals) and 58.6% in the non-RMD group (75 of 128 individuals) (χ2=8.8; P=.003; odds ratio, 0.46 [95% confidence interval, 0.28–0.76]). The corresponding frequencies of the risk allele for ARMS2 were 44.0% (40 of 128 individuals) and 31.3% (40 of 128 individuals), respectively (χ2=4.0; P=.045; odds ratio, 1.73 [95% confidence interval, 1.04–2.90]). Homozygosity for 402Hwas particularly associated with the absence of RMD, occurring in 8 of 67 subjects (11.9%) with RMD vs 24 of 64 subjects (37.5%) without RMD(P χ.001). Retinal macular disease also was associated with hypertension among male patients. Conclusions The AMD-associated CFH 402H risk variant is significantly associated with the absence of RMD but enhanced risk for RMD is conferred by the ARMS2 69S AMD risk allele. These results are consistent with the hypothesis that 402H may confer a survival benefit against certain infections, some of which may cause RMD. Clinical Relevance Reticular macular disease may be genetically distinct from the rest of AMD. PMID:21825189

  15. Prevention of visual field defects after macular hole surgery.

    LENUS (Irish Health Repository)

    Cullinane, A B

    2012-02-03

    BACKGROUND\\/AIM: The pathogenesis of visual field loss associated with macular hole surgery is uncertain but a number of explanations have been proposed, the most convincing of which is the effect of peeling of the posterior hyaloid, causing either direct damage to the nerve fibre layer or to its blood supply at the optic nerve head. The purpose of this preliminary prospective study was to determine the incidence of visual field defects following macular hole surgery in cases in which peeling of the posterior hyaloid was confined only to the area of the macula. METHODS: 102 consecutive eyes that had macular hole surgery had preoperative and postoperative visual field examination using a Humphrey\\'s perimeter. A comparison was made between two groups: I, those treated with vitrectomy with complete posterior cortical vitreous peeling; and II, those treated with a vitrectomy with peeling of the posterior hyaloid in the area of the macula but without attempting a complete posterior vitreous detachment. Specifically, no attempt was made to separate the posterior hyaloid from the optic nerve head. Eyes with stage II or III macular holes were operated. Autologous platelet concentrate and non-expansile gas tamponade was used. Patients were postured prone for 1 week. RESULTS: In group I, 22% of patients were found to have visual field defects. In group II, it was possible to separate the posterior hyaloid from the macula without stripping it from the optic nerve head and in these eyes no pattern of postoperative visual field loss emerged. There were no significant vision threatening complications in this group. The difference in the incidence of visual field loss between group I and group II was significant (p=0.02). The anatomical and visual success rates were comparable between both groups. CONCLUSION: The results from this preliminary study suggest that the complication of visual field loss after macular surgery may be reduced if peeling of the posterior hyaloid is

  16. Intravitreal pegaptanib for the treatment of ischemic diabetic macular edema

    Directory of Open Access Journals (Sweden)

    Kiire CA

    2015-12-01

    Full Text Available Christine A Kiire, Rupal Morjaria, Anna Rudenko, Alexina Fantato, Lewis Smith, Amy Smith, Victor Chong Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK Purpose: Pegaptanib has been shown to be effective in treating diabetic macular edema (DME. In the original Phase II/III trial, however, patients with macular ischemia were excluded. In this study, we treated patients with ischemic DME. Methods: Macular ischemia was defined as a 30% increase in the area of the foveal avascular zone (FAZ at 45 seconds on fundus fluorescein angiography. In addition, the participants had diffuse foveal-involving DME with a central subfield thickness (CST of >300 µm on spectral-domain optical coherence tomography. Five intravitreal pegaptanib injections were given 6 weeks apart. The final study visit was 6 weeks after the fifth injection. The primary outcome was change in the size of FAZ. Secondary outcomes were change in best-corrected visual acuity (BCVA and the change in CST. Results: Thirty participants were enrolled. Three were unable to complete the full course of treatment. Their outcomes were carried forward for the first part of this analysis. There was no statistically significant change in the mean size of the FAZ from baseline to the final visit. Subclassifying participants as those with minimal/moderate ischemia (16 participants, FAZ area <1,000 pixels and those with more severe ischemia (14 participants, FAZ area >1,000 pixels also showed no statistically significant change in the mean area of the FAZ. On average, BCVA increased and CST decreased from baseline to the final visit, but these changes were not statistically significant. Using per protocol analysis on those participants who completed the full course of treatment, the mean BCVA increased from 49.2 to 53.9 letters (P=0.046. Conclusion: In this study, intravitreal injection of pegaptanib did not significantly alter the size of the FAZ in participants

  17. Relation between macular morphology and treatment frequency during twelve months with ranibizumab for diabetic macular edema.

    Directory of Open Access Journals (Sweden)

    Yuki Mori

    Full Text Available To investigate whether baseline optical coherence tomography (OCT parameters can predict the treatment frequency of intravitreal ranibizumab (IVR injections during the first year in patients with diabetic macular edema (DME treated with pro re nata (PRN IVR injections.We retrospectively reviewed 68 eyes of 63 patients with center-involved DME who received IVR injections for 12 months or longer according to three monthly IVR injections followed by the PRN dosing. We measured the mean retinal thicknesses in the individual subfields of the Early Treatment Diabetic Retinopathy Study grid and evaluated the qualitative and quantitative parameters on OCT sectional images. We investigated the relationship between these OCT parameters at baseline and the number of IVR injections during the 12-month follow-up.Three loading doses were administered to 10 eyes; four to seven annualized IVR injections were administered to 34 eyes. The number of eyes that received IVR injections decreased gradually until month 6 and was almost constant from months 7 to 11. No relationships were seen between the treatment frequency and baseline systemic factors and the ophthalmic examination findings. Univariate analyses showed that the number of IVR injections during the first year was associated with the mean retinal thickness in the individual subfields and the transverse length of the disrupted external limiting membrane (ELM and ellipsoid zone of the photoreceptors. Multivariate analysis showed a significant association with the thickness in the inferior subfield alone. The treatment frequency during the 12-month follow-up was not correlated with improved visual acuity but was associated with the decrease in the central subfield thickness and disrupted ELM.The retinal thickness in the inferior subfield predicts the treatment frequency during the first year in eyes with DME treated with PRN IVR injections.

  18. El ruboxistaurin, una alternativa en el edema macular diabético The ruboxistaurin, an alternative in the diabetic macular edema

    OpenAIRE

    María Emoé Pérez Muñoz; Juana Elvira Maciques Rodríguez

    2012-01-01

    Antecedentes: el edema macular es la principal causa de baja visión en personas con retinopatía diabética. Objetivo: revisar los resultados del tratamiento con ruboxistaurin en el edema macular diabético. Desarrollo: la hiperglucemia, entre otras alteraciones metabólicas, activa la proteína quinasa C, lo que contribuye a la disfunción microvascular, trastorno importante en la patogenia del edema macular diabético. Diversos procederes terapéuticos se han utilizado en su tratamiento. En los últ...

  19. Recurrent and migratory reflex sympathetic dystrophy in children.

    Science.gov (United States)

    Tong, H C; Nelson, V S

    2000-01-01

    Reflex sympathetic dystrophy is a syndrome characterized by superficial pain and tenderness associated with swelling, vasomotor instability, and dystrophic changes of the skin. In children, it is rarely reported and is felt to have a more benign and self-limited course. This case illustrates that, in children, reflex sympathetic dystrophy can occur without any previous history of trauma, and may be recurrent and migratory. A review of the literature is included. An 11-year-old girl, with no history of trauma, presented in 1992 with spontaneous onset of right leg pain. She was diagnosed with reflex sympathetic dystrophy, and she was treated unsuccessfully with oral medications. Her symptoms then resolved in 2 weeks after receiving epidural anaesthesia and aggressive physical therapy. Over the next 5 years, she presented to the paediatric rehabilitation clinic three times with recurrent RSD in her bilateral arms. The first two times were refractory to conservative management and resolved with four stellate ganglion blocks. The third recurrence persisted with three stellate ganglion blocks and resolved with gabapentin.

  20. Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Francesca Sciandra

    2015-01-01

    Full Text Available In skeletal muscle, dystroglycan (DG is the central component of the dystrophin-glycoprotein complex (DGC, a multimeric protein complex that ensures a strong mechanical link between the extracellular matrix and the cytoskeleton. Several muscular dystrophies arise from mutations hitting most of the components of the DGC. Mutations within the DG gene (DAG1 have been recently associated with two forms of muscular dystrophy, one displaying a milder and one a more severe phenotype. This review focuses specifically on the animal (murine and others model systems that have been developed with the aim of directly engineering DAG1 in order to study the DG function in skeletal muscle as well as in other tissues. In the last years, conditional animal models overcoming the embryonic lethality of the DG knock-out in mouse have been generated and helped clarifying the crucial role of DG in skeletal muscle, while an increasing number of studies on knock-in mice are aimed at understanding the contribution of single amino acids to the stability of DG and to the possible development of muscular dystrophy.