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

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Erdem Yuksel

2016-04-01

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

ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1.

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Saffra, Norman; Seidman, Carly Jane; Rakhamimov, Aleksandr; Tsang, Stephen H

2017-05-04

A 57-year-old man with a past medical history of diabetes presented for consultation with a several year history of slowly progressive vision loss in both eyes, which continued to deteriorate over 7 years of follow-up. Multimodal imaging was performed and was significant for the following: on spectral domain optical coherence tomography, a gap lesion was present in the ellipsoid layer, beneath the umbo, as well as subtle macular changes on auto fluorescence imaging. Multifocal electroretinography was performed and was abnormal, and a clinical diagnosis of occult macular dystrophy was made. The patient was subsequently evaluated with genetic testing that revealed a novel p.P73S:c 217C>T nonsense mutation within the retinitis pigmentosa 1-like-1 (RP1L1) gene. The clinical significance of the identified variation will require further investigation. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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

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Mário Teruo Sato

2002-03-01

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

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

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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.

[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

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Qi, Yan-hua; Dang, Xiu-hong; Su, Hong; Zhou, Nan; Liang, Ting; Wang, Zheng; Huang, Shang-zhi

2010-02-01

The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes of MCD. Corneal button of the proband was obtained from penetrating keratoplasty for the treatment of severe corneal dystrophy. The sections and ultrathin sections of this specimen were examined under light microscope and transmission electron microscope (TEM). Genomic DNA was extracted from leukocytes in peripheral blood from the family members. The coding region of CHST6 was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by direct sequencing and restriction enzyme digestion. Histochemical study revealed positive results of colloidal iron stain. TEM revealed enlargement of smooth endoplasmic reticulum and the presence of intracytoplasmic vacuoles. Two mutations, Q298X Y358H, were identified in exon 3 of CHST6. Three patients were compound heterozygotes of these two mutations. The C892T transversion occurred at codon 298 turned the codon of glutamine to a stop codon; the T1072C transversion occurred at codon 358 caused a missense mutation, tyrosine to histidine. All six unaffected family members were heterozygotes. These two mutations were not detected in any of the 100 control subjects. The novel compound heterozygous mutation results in loss of CHST6 function and causes the occurrence of MCD. This is the first report of this gene mutation.

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

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

2006-04-01

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

Pattern Dystrophy of the Macula in a Case of Steinert Disease

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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.

Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.

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Sparrow, Janet R; Duncker, Tobias; Woods, Russell; Delori, François C

2016-01-01

Since the lipofuscin of retinal pigment epithelial (RPE) cells has been implicated in the pathogenesis of Best vitelliform macular dystrophy, we quantified fundus autofluorescence (quantitative fundus autofluorescence, qAF) as an indirect measure of RPE lipofuscin levels. Mean non-lesion qAF was found to be within normal limits for age. By spectral domain optical coherence tomography (SD-OCT) vitelliform lesions presented as fluid-filled subretinal detachments containing reflective material. We discuss photoreceptor outer segment debris as the source of the intense fluorescence of these lesions and loss of anion channel functioning as an explanation for the bullous photoreceptor-RPE detachment. Unexplained is the propensity of the disease for central retina.

Cone rod dystrophies

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Hamel, Christian P

2007-01-01

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 always advised. Currently

Cone rod dystrophies

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Hamel Christian P

2007-02-01

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

[Central aleolar choroidal dystrophy in sibilings coexisting with alopecia].

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Brydak-Godowska, Joanna; Dróbecka-Brydak, Ewa; Paćkowska, Maria; Kecik, Dariusz

2007-01-01

Central areolar choroidal dystrophy is localized in macular region and is characterized by atrophy of pigment epithelium, photoreceptors and choriocapillaris. This paper presents the history of two sibilings at the age of 23 and 30, with central aleolar choroidal dystrophy coexisting with alopecia. The results of erg, eog and fluorescein angiography are presented. The results of therapy for glaucoma associated with the Sturge-Weber syndrome are often disappointing.

Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

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Paloma, E; Martínez-Mir, A; Vilageliu, L; Gonzàlez-Duarte, R; Balcells, S

2001-06-01

The ABCA4 gene has been involved in several forms of inherited macular dystrophy. In order to further characterize the complex genotype-phenotype relationships involving this gene, we have performed a mutation analysis of ABCA4 in 14 Spanish patients comprising eight STGD (Stargardt), four FFM (fundus flavimaculatus), and two CRD (Cone-rod dystrophy) patients. SSCP (single-strand conformation polymorphism) analysis and DNA sequencing of the coding and 5' upstream regions of this gene allowed the identification of 16 putatively pathogenic alterations, nine of which are novel. Most of these were missense changes, and no patient was found to carry two null alleles. Overall, the new data agree with a working model relating the different pathogenic phenotypes to the severity of the mutations. When considering the information presented here together with that of previous reports, a picture of the geographic distribution of three particular mutations emerges. The R212C change has been found in French, Italian, Dutch, German, and Spanish but not in British patients. In the Spanish collection, R212C was found in a CRD patient, indicating that it may be a rather severe change. In contrast, c.2588G>C, a very common mild allele in the Dutch population, is rarely found in Southern Europe. Interestingly, the c.2588G>C mutation has been found in a double mutant allele together with the missense R1055W. Finally, the newly described L1940P was found in two unrelated Spanish patients, and may be a moderate to severe allele. Copyright 2001 Wiley-Liss, Inc.

Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family

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Farhad Nejat

2018-03-01

Full Text Available Macular corneal dystrophy (MCD is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6 gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implicated in different forms of RP. Herein, we report on a 9-member family with 2 girls and 5 boys. Both parents, one of the girls and one of the boys had normal eye vision and another boy had keratoconus. Other children (1 girl and 2 boys suffered from both MCD and RP. Corneal transplantation and medical supplements were used for MCD and RP during the follow-up period, respectively. Based on the family tree, it seems that the inheritance of both diseases is autosomal recessive. Based on our search of databases, there is no report on the simultaneous presence of MCD and RP. To the best of our knowledge, the present article is the first case report on this topic. Molecular genetic investigation is needed to clarify the mechanism of concurrent MCD and RP.

Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome.

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

2015-03-12

We report an unusual association of a pattern dystrophy of the retinal pigment epithelium and homonymous hemianopia in a woman diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome. 2015 BMJ Publishing Group Ltd.

Achondroplasia and Macular Coloboma.

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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.

Respiratory function in facioscapulohumeral muscular dystrophy 1

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Wohlgemuth, M.; Horlings, G.C.; Kooi, E.L. van der; Gilhuis, H.J.; Hendriks, J.C.M.; Maarel, S.M. van der; Engelen, B.G.M. van; Heijdra, Y.F.; Padberg, G.W.A.M.

2017-01-01

To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying degrees of severity ranging from ambulatory

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

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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.

FFA STUDY OF MACULAR LESIONS

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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

Delayed healing of corneal epithelium after phototherapeutic keratectomy for lattice dystrophy.

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Das, Sujata; Langenbucher, Achim; Seitz, Berthold

2005-04-01

To evaluate the time period necessary for complete epithelial healing after phototherapeutic keratectomy (o-PTK) carried out for various superficial corneal opacities. A total of 197 eyes were divided into 9 groups: group 1, Cogan dystrophy including recurrences (n = 15); group 2, Reis Bucklers dystrophy including recurrences (n = 12); group 3, granular dystrophy including recurrences (n = 63); group 4, lattice dystrophy including recurrences (n = 19); group 5, macular dystrophy including recurrences (n = 10); group 6, herpetic scars (n = 5); group 7, corneal scars of nonherpetic origin (including scrofulous, traumatic, central keratoconus, post-pterygium surgery) (n = 31); group 8, Salzmann nodular degeneration (n = 22); and group 9, miscellaneous (such as bullous keratopathy, acute chemical burn, corneal degeneration) (n = 20). After o-PTK, patients were examined daily at the slit lamp using fluorescein and blue light. The time period necessary for complete healing of the epithelial defect was compared among these groups. Delayed healing was considered where the epithelium was not closed after 7 days. One hundred sixty-one eyes (95%) healed within 7 days. Overall, 63%, 80%, and 85% of epithelial defects were closed within 3, 4, and 5 days, respectively. Out of 9 eyes that had delayed healing, 6 eyes (67%) belonged to lattice dystrophy category. Mean time taken for healing in group 4 (8.6 +/- 8.4 days) was significantly longer than those in group 1 (3.0 +/- 1.5 days, P = 0.009), group 2 (3.7 +/- 3.1 days, P = 0.03), group 3 (3.1 +/- 1.5 days, P = 0.001), group 5 (2.7 +/- 0.8 days, P = 0.01), group 7 (3.6 +/- 2.4 days, P = 0.007), group 8 (3.3 +/- 1.3 days, P = 0.009), and group 9 (3.0 +/- 1.9 days, P = 0.011). Eyes with lattice corneal dystrophy suffered from delayed epithelial healing after o-PTK. In addition to adequate counseling, these patients should be followed up closely until complete closure of the epithelium to avoid ulceration, scarring, or even

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.

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Matsuzaka, Yasunari; Kishi, Soichiro; Aoki, Yoshitsugu; Komaki, Hirofumi; Oya, Yasushi; Takeda, Shin-Ichi; Hashido, Kazuo

2014-11-01

Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic disorders. In clinical tests for these diseases, creatine kinase (CK) is generally used as diagnostic blood-based biomarker. However, because CK levels can be altered by various other factors, such as vigorous exercise, etc., false positive is observed. Therefore, three microRNAs (miRNAs), miR-1, miR-133a, and miR-206, were previously reported as alternative biomarkers for duchenne muscular dystrophy (DMD). However, no alternative biomarkers have been established for the other muscular dystrophies. We, therefore, evaluated whether these miR-1, miR-133a, and miR-206 can be used as powerful biomarkers using the serum from muscular dystrophy patients including DMD, myotonic dystrophy 1 (DM1), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), becker muscular dystrophy (BMD), and distal myopathy with rimmed vacuoles (DMRV) by qualitative polymerase chain reaction (PCR) amplification assay. Statistical analysis indicated that all these miRNA levels in serum represented no significant differences between all muscle disorders examined in this study and controls by Bonferroni correction. However, some of these indicated significant differences without correction for testing multiple diseases (P < 0.05). The median values of miR-1 levels in the serum of patients with LGMD, FSHD, and BMD were approximately 5.5, 3.3 and 1.7 compared to that in controls, 0.68, respectively. Similarly, those of miR-133a and miR-206 levels in the serum of BMD patients were about 2.5 and 2.1 compared to those in controls, 1.03 and 1.32, respectively. Taken together, our data demonstrate that levels of miR-1, miR-133a, and miR-206 in serum of BMD and miR-1 in sera of LGMD and FSHD patients showed no significant differences compared with those of controls by Bonferroni correction. However, the results might need increase in sample sizes to evaluate these three miRNAs as

Preferred retinal locus in macular disease: characteristics and clinical implications.

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Greenstein, Vivienne C; Santos, Rodrigo A V; Tsang, Stephen H; Smith, R Theodore; Barile, Gaetano R; Seiple, William

2008-10-01

To investigate the location and fixation stability of preferred retinal locations (PRLs) in patients with macular disease, and the relationship among areas of abnormal fundus autofluorescence, the PRL and visual sensitivity. Fifteen patients (15 eyes) were studied. Seven had Stargardt disease, 1 bull's eye maculopathy, 5 age-related macular degeneration, 1 Best disease, and 1 pattern dystrophy. All tested eyes had areas of abnormal fundus autofluorescence. The PRL was evaluated with fundus photography and the Nidek microperimeter. Visual field sensitivity was measured with the Nidek microperimeter. Of the 15 eyes, 4 had foveal and 11 had eccentric fixation. Eccentric PRLs were above the atrophic lesion and their stability did not depend on the degree of eccentricity from the fovea. Visual sensitivity was markedly decreased in locations corresponding to hypofluorescent areas. Sensitivity was not decreased in hyperfluorescent areas corresponding to flecks but was decreased if hyperfluorescence was in the form of dense annuli. Eccentric PRLs were in the superior retina in regions of normal fundus autofluorescence. Fixation stability was not correlated with the degree of eccentricity from the fovea. To assess the outcomes of treatment trials it is important to use methods that relate retinal morphology to visual function.

SIRT1: A Novel Target for the Treatment of Muscular Dystrophies

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Atsushi Kuno

2016-01-01

Full Text Available Muscular dystrophies are inherited myogenic disorders accompanied by progressive skeletal muscle weakness and degeneration. Duchenne muscular dystrophy (DMD is the most common and severe form of muscular dystrophy and is caused by mutations in the gene that encodes the cytoskeletal protein dystrophin. The treatment for DMD is limited to glucocorticoids, which are associated with multiple side effects. Thus, the identification of novel therapeutic targets is urgently needed. SIRT1 is an NAD+-dependent histone/protein deacetylase that plays roles in diverse cellular processes, including stress resistance and cell survival. Studies have shown that SIRT1 activation provides beneficial effects in the dystrophin-deficient mdx mouse, a model of DMD. SIRT1 activation leads to the attenuation of oxidative stress and inflammation, a shift from the fast to slow myofiber phenotype, and the suppression of tissue fibrosis. Although further research is needed to clarify the molecular mechanisms underlying the protective role of SIRT1 in mdx mice, we propose SIRT1 as a novel therapeutic target for patients with muscular dystrophies.

Prevalence and correlates of apathy in myotonic dystrophy type 1

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Gallais, Benjamin; Montreuil, Mich?le; Gargiulo, Marcela; Eymard, Bruno; Gagnon, Cynthia; Laberge, Luc

2015-01-01

Background Apathy in DM1 has long been acknowledged in clinical practice. However, a major drawback is that the concept has been only sparsely explored in previous specific studies. This study aimed to determine the prevalence of apathy in myotonic dystrophy (DM1), to compare it with facioscapulohumeral dystrophy (FSHD) patients and normal healthy controls, and explore its relationship to psychopathological features and cognitive function. Methods Levels of apathy in 38 DM1 patients with adul...

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

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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

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

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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.

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study

OpenAIRE

Baldanzi, Sigrid; Bevilacqua, Francesca; Lorio, Rita; Volpi, Leda; Simoncini, Costanza; Petrucci, Antonio; Cosottini, Mirco; Massimetti, Gabriele; Tognoni, Gloria; Ricci, Giulia; Angelini, Corrado; Siciliano, Gabriele

2016-01-01

Background Myotonic dystrophy type 1 (Steinert?s disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gastrointestinal tract, endocrine system, and central nervous system, finally responsible of increasing disabilities and secondary social consequences. To date, DM1-related brain involvement represents a challenging field of research. It is well known that DM1 patients frequently ...

Comparative proteomic analyses of macular and peripheral retina of cynomolgus monkeys (Macaca fascicularis).

Science.gov (United States)

Okamoto, Haru; Umeda, Shinsuke; Nozawa, Takehiro; Suzuki, Michihiro T; Yoshikawa, Yasuhiro; Matsuura, Etsuko T; Iwata, Takeshi

2010-01-01

The central region of the primate retina is called the macula. The fovea is located at the center of the macula, where the photoreceptors are concentrated to create a neural network adapted for high visual acuity. Damage to the fovea, e.g., by macular dystrophies and age-related macular degeneration, can reduce central visual acuity. The molecular mechanisms leading to these diseases are most likely dependent on the proteins in the macula which differ from those in the peripheral retina in expression level. To investigate whether the distribution of proteins in the macula is different from the peripheral retina, proteomic analyses of tissues from these two regions of cynomolgus monkeys were compared. Two-dimensional gel electrophoresis and mass spectrometry identified 26 proteins that were present only in the macular gel spots. The expression levels of five proteins, cone photoreceptor specific arrestin-C, gamma-synuclein, epidermal fatty acid binding protein, tropomyosin 1alpha chain, and heterogeneous nuclear ribonucleoproteins A2/B1, were significantly higher in the macula than in the peripheral retina. Immunostaining of macula sections by antibodies to each identified protein revealed unique localization in the retina, retinal pigment epithelial cells and the choroidal layer. Some of these proteins were located in cells with higher densities in the macula. We suggest that it will be important to study these proteins to determine their contribution to the pathogenesis and progression of macula diseases.

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.

Myotonic Muscular Dystrophy

Science.gov (United States)

... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area.

Science.gov (United States)

Stanislovaitiene, Daiva; Zaliuniene, Dalia; Krisciukaitis, Algimantas; Petrolis, Robertas; Smalinskiene, Alina; Lesauskaite, Vita; Tamosiunas, Abdonas; Lesauskaite, Vaiva

2017-01-01

Age-related macular degeneration (ARMD), a progressive retinal disease, is responsible for an impaired central vision in about 180 million people worldwide. Current options for ARMD prevention and treatment are limited due to an incomplete understanding of disease etiopathogenesis. We aimed to test the hypothesis that the single nucleotide polymorphism rs5888 of SCARB1 gene reflecting lipid and antioxidant micronutrient metabolism pathways is associated with ARMD susceptibility and to evaluate if there is any relation between SCARB1 rs5888 and the macular lesion area. The prospective case-control study included patients with ARMD (n = 215) and the reference group (n = 238) drawn from a random sample of the Lithuanian population (n = 1436). The genotyping test of SCARB1 rs5888 was carried out using the real-time polymerase chain reaction method. Regression analysis adjusted by gender and age demonstrated that SCARB1 rs5888 TT genotype significantly decreased the odds for ARMD development (OR: 0.61, 95%; CI: 0.380-0.981, p = 0.04). A smoking habit and leading an outdoor life are associated with larger macular lesion areas in ARMD patients (0.54 (0.00-39.06) vs. 3.09 (0.02-19.30) and 0.27 (0.00-34.57) vs. 0.75 (0.00-39.06), respectively). In late stage ARMD subjects with CT genotype, the macular lesion area was larger than in TT carriers (7.64 (0.49-39.06) mm 2 vs. 5.02 (0.03-37.06) mm 2 , p = 0.006). SCARB1 rs5888 and environmental oxidative stress have a prominent role in ARMD susceptibility, early ARMD progression to advanced stage disease and even in the outcome of the disease-an area of macular lesion.

High-intensity interval training in facioscapulohumeral muscular dystrophy type 1

DEFF Research Database (Denmark)

Andersen, Grete; Heje, Karen; Buch, Astrid Emile

2017-01-01

of muscle damage in facioscapulohumeral muscular dystrophy type 1 (FSHD1). We aimed to determine whether HIT is safe and effective in FSHD1 in a randomized, controlled parallel study. Untrained adults with genetically verified FSHD1 (n = 13) able to perform cycle-ergometer exercise were randomized to 8......, workload, 6-min walk distance, 5-time sit-to-stand time, muscle strength, and daily activity levels were measured. Pain, fatigue, and plasma-CK were monitored. Twelve patients completed the randomized part of the study. Plasma-CK levels and pain scores were unaffected by HIT. Supervised HIT improved...... counterintuitive to perform HIT in muscular dystrophies, but this RCT shows that regular HIT is safe, efficacious, and well liked by moderately affected patients with FSHD1, which suggests that HIT is a feasible method for rehabilitating patients with FSHD1....

CLOSING MACULAR HOLES WITH "MACULAR PLUG" WITHOUT GAS TAMPONADE AND POSTOPERATIVE POSTURING.

Science.gov (United States)

Chakrabarti, Meena; Benjamin, Preethi; Chakrabarti, Keya; Chakrabarti, Arup

2017-03-01

To investigate the surgical results of macular hole surgery without gas tamponade or postoperative posturing in patients with Stage 3 and Stage 4 macular holes with ≥500 μm mean base diameter. Retrospective interventional case series. Twenty-six patients with Stage 3 and Stage 4 macular holes. Twenty-six eyes of 26 patients with Stage 3 and Stage 4 macular holes and a mean base diameter of 892.8 ± 349 μm underwent pars plana 23-gauge vitrectomy with broad internal limiting membrane peel (ILM peel), inverted ILM flap repositioning (ILMR), and use of autologous gluconated blood clumps as a macular plug to close the macular hole. No fluid-air exchange, endotamponade, or postoperative posturing was used. The subjects were followed up for 12 months. The anatomical outcome of the procedure was evaluated by fundus examination and optical coherence tomography. Spectral domain optical coherence tomography was used to study the restoration of the outer retinal layer integrity in the postoperative period. The preoperative and postoperative best-corrected visual acuities in logMAR units were compared to evaluate functional outcome. Macular hole closure and best-corrected visual acuity before and after surgery. Twenty-six patients with mean age 62.8 ± 7.3 years, preoperative median best-corrected visual acuity 6/60 (1.0 logMAR units), and a mean base diameter of 892.8 ± 349 μm underwent surgery to close macular holes without gas tamponade or postoperative posturing. Twenty patients (76.9%) were phakic. Twenty eyes (76.92%) had Stage 3 macular holes and 6 eyes (23.10%) had Stage 4 macular holes. After a single surgery, hole closure was achieved in 100% of eyes. The median best-corrected visual acuity improved from 6/60 (1.0 logMAR units) to 6/18 (0.50 logMAR units) (P hole closure with statically significant functional improvement for large Stage 3 and Stage 4 macular holes.

Myotonic Dystrophy Type 1 Management and Therapeutics.

Science.gov (United States)

Smith, Cheryl A; Gutmann, Laurie

2016-12-01

Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders. At present, there is no curative or disease-modifying treatment, although clinical treatment trials have become more promising. Management focuses on genetic counseling, preserving function and independence, preventing cardiopulmonary complications, and symptomatic treatment (e.g., pain, myotonia, hypersomnolence, etc.). Currently, there is an increasing international consensus on monitoring and treatment options for these patients which necessitates a multidisciplinary team to provide comprehensive, coordinated clinical care.

Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Science.gov (United States)

Testa, Francesco; Melillo, Paolo; Di Iorio, Valentina; Orrico, Ada; Attanasio, Marcella; Rossi, Settimio; Simonelli, Francesca

2014-12-01

To evaluate disease progression in a cohort of patients with a clinical and genetic diagnosis of Stargardt disease. Longitudinal cohort study. A total of 56 selected patients with a clinical and molecular diagnosis of Stargardt disease, an early age of onset, and a median follow-up length of 2 years. Patients underwent routine examination, including full-field electroretinography, microperimetry, and optical coherence tomography. Best-corrected visual acuity (BCVA), mean retinal sensitivity, fixation stability, preferred retinal locus, inner segment/outer segment (IS/OS) junction loss, and atrophic lesion area. A total of 56 patients with a mean age at disease onset of 15.3 years (range, 3-28 years), a mean disease duration of 12.1 years, and a mean age at baseline of 27.4 years were analyzed. The median BCVA was 20/200 in both eyes. Optical coherence tomography parameters (IS/OS alteration and retinal pigment epithelium lesion area) were obtained in only 49 patients because the signal quality was poor in the remaining 7 patients. Optical coherence tomography revealed a mean retinal pigment epithelium lesion area of 2.6 mm(2), preserved foveal IS/OS in 4.1% of patients, loss of foveal IS/OS in 59.2% of patients, and extensive loss of macular IS/OS in 36.7% of patients. Microperimetric findings showed a reduced macular sensitivity (mean, 10 decibels [dB]) and an unstable fixation in half of the patient cohort. The longitudinal analysis showed a significant progressive reduction of BCVA and macular sensitivity (at an estimated rate of 0.04 decimals and 1.19 dB/year, respectively) associated with a significant enlargement of retinal pigment epithelium lesion area (0.282 mm(2)/year). No significant changes in ophthalmoscopic findings and electroretinographic responses were detected. This study highlights the importance of microperimetry and optical coherence tomography in monitoring patients with Stargardt disease. Quantifying the decline of visual functionality and

Macular function and morphological features in juvenile Stargardt disease: Longitudinal study

Science.gov (United States)

Testa, Francesco; Melillo, Paolo; Iorio, Valentina Di; Orrico, Ada; Attanasio, Marcella; Rossi, Settimio; Simonelli, Francesca

2014-01-01

Purpose to evaluate disease progression in a cohort of patients with clinical and genetic diagnosis of Stargardt disease. Design longitudinal cohort study. Subjects 56 selected patients with a clinical and molecular diagnosis of Stargardt disease, an early age of onset and a median follow-up length of two years. Methods patients underwent routine examination including full-field electroretinography, microperimetry and optical coherence tomography. Main Outcome Measures best corrected visual acuity, mean retinal sensitivity, fixation stability, preferred retinal locus, inner-outer segment (IS/OS) junction loss, atrophic lesion area. Results 56 patients with a mean age of disease onset of 15.3 years (range: 3 - 28 years), a mean disease length of 12.1 years and a mean age at baseline of 27.4 years were analyzed. The median best corrected visual acuity was 20/200 in both eyes. Optical coherence tomography parameters (IS/OS alteration and retinal pigment epithelium lesion area) were obtained in 49 patients because signal quality was poor in the remaining 7 patients. Optical coherence tomography revealed a mean retinal pigment epithelium lesion area of 2.6 mm2, preserved foveal IS/OS in 4.1% of patients, loss of foveal IS/OS in 59.2%, and extensive loss of macular IS/OS in 36.7%. Microperimetric findings showed a reduced macular sensitivity (mean 10 dB) and an unstable fixation in half of the patient cohort. The longitudinal analysis showed a significant progressive reduction of best corrected visual acuity and macular sensitivity (at an estimated rate of 0.04 decimals and 1.19 dB per year, respectively) associated with a significant enlargement of retinal pigment epithelium lesion area (0.282 mm2 per year). No significant changes in ophthalmoscopic findings and electroretinographic responses were detected. Conclusions this study highlights the importance of microperimetry and optical coherence tomography in monitoring Stargardt patients. In fact, quantifying the

Association of HTRA1 rs11200638 with age-related macular degeneration (AMD) in Brazilian patients.

Science.gov (United States)

Lana, Tamires Prates; da Silva Costa, Sueli Matilde; Ananina, Galina; Hirata, Fábio Endo; Rim, Priscila Hae Hyun; Medina, Flávio MacCord; de Vasconcellos, José Paulo Cabral; de Melo, Mônica Barbosa

2018-01-01

Age-related macular degeneration is a multifactorial disease that can lead to vision impairment in older individuals. Although the etiology of age-related macular degeneration remains unknown, risk factors include age, ethnicity, smoking, hypertension, obesity, and genetic factors. Two main loci have been identified through genome-wide association studies, on chromosomes 1 and 10. Among the variants located at the 10q26 region, rs11200638, located at the HTRA1 gene promoter, has been associated with age-related macular degeneration in several populations and is considered the main polymorphism. We conducted a replication case-control study to analyze the frequency and participation of rs11200638 in the etiology of age-related macular degeneration in a sample of patients and controls from the State of São Paulo, Brazil, through polymerase chain reaction and enzymatic digestion. The frequency of the A allele was 57.60% in patients with age-related macular degeneration and 36.45% in controls (p value age-related macular degeneration group compared to the control group (p = 1.21 e-07 and 0.0357, respectively). No statistically significant results were observed after stratification in dry versus wet types or advanced versus non-advanced forms. To our knowledge, this is the first time the association between rs11200638 and overall age-related macular degeneration has been reported in South America.

Comparison of ketorolac 0.45% versus diclofenac 0.1% for macular thickness and volume after uncomplicated cataract surgery.

Science.gov (United States)

Lee, Tae Hee; Choi, Won; Ji, Yong Sok; Yoon, Kyung Chul

2016-05-01

To compare the effects of ketorolac 0.45% and diclofenac 0.1% on macular thickness and volume after uncomplicated cataract surgery. A total of 76 eyes of 76 patients who underwent uncomplicated cataract surgery were included. Patients were treated with either diclofenac 0.1% (38 eyes) or ketorolac 0.45% (38 eyes) after surgery. The macular thickness and volume were obtained with optical coherence tomography (OCT). Central subfield thickness (CST, OCT 1 mm zone), total foveal thickness (TFT, OCT 3 mm zone), total macular thickness (TMT, OCT 6 mm zone), average macular thickness (AMT) and total macular volume (TMV) were compared between the two study groups. No significant differences between groups were found in macular thickness or volume 1 month after cataract surgery. Two months after surgery, the ketorolac group had significantly lower CST, TFT, TMT and AMT than the diclofenac group (p diclofenac group. Following uncomplicated cataract surgery, topical ketorolac 0.45% was more effective than diclofenac 0.1% in preventing increases in macular thickness and volume. © 2015 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

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

Reflex sympathetic dystrophy/complex regional pain syndrome, type 1

African Journals Online (AJOL)

Enrique

with MRI every 3 months and the bone marrow oedema disappeared after 6 months. Introduction ... SA JOURNAL OF RADIOLOGY • August 2004. Reflex sympathetic dystrophy/complex regional pain syndrome, type 1 ... may be either trauma of external origin or iatrogenic, post surgery. In some patients particularly children ...

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

Science.gov (United States)

Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella

2013-12-01

Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis. We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time. Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.

Infrastructure for Clinical Trials in Duchenne Dystrophy

Science.gov (United States)

2010-09-13

A Zimmerman, T Duong, J Florence and the CINRG Investigators. Pulmonary Function Characteristics of Boys with Duchenne and Becker Muscular Dystrophy ...designated CINRG site staff 1. Has the participant been clinically diagnosed with Limb-Girdle or Becker muscular dystrophy ? LGMD BMD 2. Was...Number: W81XWH-09-1-0592 TITLE: CINRG: Infrastructure for Clinical Trials in Duchenne Dystrophy PRINCIPAL INVESTIGATOR: Avital Cnaan, PhD

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

NARCIS (Netherlands)

Kamsteeg, E.J.; Kress, W.; Catalli, C.; Hertz, J.M.; Witsch-Baumgartner, M.; Buckley, M.F.; Engelen, B.G.M. van; Schwartz, M.; Scheffer, H.

2012-01-01

Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy. The symptoms and severity of myotonic dystrophy type l (DM1) ranges from severe and congenital forms, which frequently result in death because of respiratory deficiency, through to

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.

Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A

Energy Technology Data Exchange (ETDEWEB)

Speer, M.C.; Yamaoka, L.H.; Stajich, J.; Lewis, K. [and others

1995-08-28

The Bethlem myopathy, an autosomal-dominant myopathy, shows a distribution of proximal muscle weakness similar to that observed in dominant limb-girdle muscular dystrophy (LGMD). Yet the Bethlem myopathy differs from most limb-girdle dystrophies in two important regards. First, the Bethlem myopathy presents with joint contractures most commonly observed at the elbows, ankles, and neck. Secondly, disease onset in the Bethlem myopathy is in early childhood, while most dominant LGMDs present with adult onset. 6 refs., 1 fig.

Distrofia em forma-de-borboleta: relato de caso Butterfly-shaped pattern dystrophy: case report

Directory of Open Access Journals (Sweden)

David Leonardo Cruvinel Isaac

2007-02-01

Full Text Available Os autores apresentam um caso de distrofia macular em forma-de-borboleta, diagnosticado em paciente do sexo masculino, apresentando concomitante atrofia do epitélio pigmentado da retina e perda visual central em um dos olhos. Os achados relatados contrariam conceitos inicialmente disponíveis de curso sempre benigno da doença. A lesão característica e bem delimitada no pólo posterior e a angiofluoresceinografia, permitiram estabelecer o diagnóstico. Descreve-se ainda, pela primeira vez, os achados da distrofia em forma-de-borboleta à tomografia de coerência óptica.The authors present a case of butterfly-shaped pattern dystrophy diagnosed in a male patient, with retinal pigmented epithelium atrophy and central visual acuity decrease in one of the eyes. The evolution of this case was not benign as described in previous reports. A well-defined lesion located in the posterior pole of both eyes associated with fluorescein angiography allowed the diagnosis of this pattern dystrophy. Optical coherence tomography was performed, showing the aspects of the pathology, for the first time.

Telomere shortening is associated to TRF1 and PARP1 overexpression in Duchenne muscular dystrophy.

Science.gov (United States)

Aguennouz, M'Hammed; Vita, Gian Luca; Messina, Sonia; Cama, Annamaria; Lanzano, Natalia; Ciranni, Annamaria; Rodolico, Carmelo; Di Giorgio, Rosa Maria; Vita, Giuseppe

2011-12-01

Telomere shortening is thought to contribute to premature senescence of satellite cells in Duchenne muscular dystrophy (DMD) muscle. Telomeric repeat binding factor-1 (TRF1) and poly (ADP-ribose) polymerase-1 (PARP1) are proteins known to modulate telomerase reverse transcriptase (TERT) activity, which controls telomere elongation. Here we show that an age-dependent telomere shortening occurs in DMD muscles and is associated to overexpression of mRNA and protein levels of TRF1 and PARP1. TERT expression and activity are detectable in normal control muscles and they slightly increase in DMD. This is the first demonstration of TRF1 and PARP1 overexpression in DMD muscles. They can be directly involved in replicative senescence of satellite cells and/or in the pathogenetic cascade through a cross-talk with oxidative stress and inflammatory response. Modulation of these events by TRF1 or PARP1 inhibition might represent a novel strategy for treatment of DMD and other muscular dystrophies. Copyright © 2010 Elsevier Inc. All rights reserved.

What Is Macular Edema?

Science.gov (United States)

... 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? ...

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...

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? ...

Cell membrane integrity in myotonic dystrophy type 1: implications for therapy

NARCIS (Netherlands)

Gonzalez, A.M.M.; Kranzen, J.; Croes, H.J.E.; Bijl, S.; Broek, W.J.A.A. van den; Kessel, I.D.G. van; Engelen, B.G.M. van; Deutekom, J.C. van; Wieringa, B.; Mulders, S.A.; Wansink, D.G.

2015-01-01

Myotonic Dystrophy type 1 (DM1) is a multisystemic disease caused by toxic RNA from a DMPK gene carrying an expanded (CTG*CAG)n repeat. Promising strategies for treatment of DM1 patients are currently being tested. These include antisense oligonucleotides and drugs for elimination of expanded RNA or

Cystoid macular edema

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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

Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family

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Galantuomo MS

2016-11-01

Full Text Available Maria Silvana Galantuomo,1,* Maurizio Fossarello,1 Alberto Cuccu,1 Roberta Farci,1 Markus N Preising,2 Birgit Lorenz,2 Pietro Emanuele Napoli1,* 1Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, Italy; 2Department of Ophthalmology, Faculty of Medicine, Justus-Liebig-University, Giessen, Germany *These authors contributed equally to this work Background: Juvenile X-linked retinoschisis (RS1, OMIM: 312700 is a hereditary vitreoretinal dystrophy characterized by bilateral foveal schisis and, in half of the patients, splitting through the nerve fiber layer in the peripheral retina. In the first decade of life, patients usually develop a decrease in visual acuity. Long-term visual outcomes can be poor due to the limited number of known successful treatments. Purpose: The purposes of this study were to present, for the first time, a p.Arg197Cys missense mutation in the RS1 gene (OMIM: 300839 in a four-generation Italian family with RS1 and to examine the clinical response to the treatment with acetazolamide tablets alone or in combination with dorzolamide eye drops as assessed by spectral-domain optical coherence tomography (SD-OCT. Methods: Eleven individuals, including two brothers with RS1 (patients 1 and 2, underwent a full medical history examination and a comprehensive ocular assessment that involved SD-OCT, fluorescein angiography, electroretinography and DNA analysis. Each RS1 patient received oral acetazolamide (375 mg daily during the first three months. Thereafter, patient 1 continued only with dorzolamide eyedrops three times a day for a period of three months, while patient 2 spontaneously stopped both medications. Results: Sequence analysis of the RS1 gene identified a hemizygous c.589C>T (p.Arg197Cys missense mutation in exon 6, which has not been previously reported in an Italian family. A different response to the medical therapy was observed in the four eyes of the two affected brothers hemizygous for

Limb-Girdle Muscular Dystrophy (LGMD)

Science.gov (United States)

... Marie-Tooth Disease (CMT) Congenital Muscular Dystrophy (CMD) Duchenne Muscular Dystrophy (DMD) Emery-Dreifuss Muscular Dystrophy Endocrine Myopathies Metabolic Diseases of Muscle Mitochondrial Myopathies (MM) Myotonic Dystrophy (DM) Spinal-Bulbar ...

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.

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

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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

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

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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

Clinical analysis of intravitreal injection of triamcinolone acetonide combined macular grid photocoagulation treatment for macular edema

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Xian-Hua Jing

2014-10-01

Full Text Available AIM: To investigate the clinical efficacy and safety of intravitreal injection of triamcinolone combined macular grid photocoagulation treatment for macular edema. METHODS: Totally 150 cases(150 eyeswith macular edema in our hospital from July 2009 to November 2013 were selected, which were randomly divided into study group(75 cases, 75 eyesand control group(75 cases, 75 eyes. The cases in control group were treated with macular grid photocoagulation treatment, those in the study group used triamcinolone acetonide combined macular grid photocoagulation treatment. Best corrected visual acuity(BCVA, parallel optical coherence tomography(OCTand fundus fluorescein angiography(FFAwere detected before treatment, after treatment 7d, 1, 3, and 9mo. RESULTS:After the treatment, patients' vision were significantly improved in two groups(PPPP>0.05. Fovea macular neurosensory retinal thickness in the study group was significantly lower than that in control group(PCONCLUSION: Triamcinolone acetonide combined macular grid photocoagulation treatment is accurate, can effectively improve the visual acuity, reduce macular edema, it is safe and reliable, and suitable for clinical application.

The macular xanthophylls.

Science.gov (United States)

Ahmed, Shazia S; Lott, McGregor N; Marcus, Dennis M

2005-01-01

The macular pigments are predominantly composed of three carotenoids: lutein, zeaxanthin, and meso-zeaxanthin. These carotenoids are concentrated and distributed in a selective manner. The properties of these pigments are further explored along with their methods of uptake, stabilization, and storage. The dual nature of these pigments as filters and antioxidants are elaborated upon in relation to their protective effects upon the macula, specifically in age-related macular degeneration. Evidence suggests that increased levels of macular pigment are correlated with a decreased risk of age-related macular degeneration. Many have sought to exploit this therapeutic relation. Studies reveal that oral supplementation with lutein and zeaxanthin can increase the levels of macular pigments in the retina and plasma. The effects of such supplementation on actual ocular function have yet to be fully addressed. New and standardized methods of assessing macular pigment density are discussed and future areas of research to further our understanding of macular xanthophylls as they pertain to age-related macular degeneration are highlighted.

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

Science.gov (United States)

Mathews, Katherine D; Cunniff, Chris; Kantamneni, Jiji R; Ciafaloni, Emma; Miller, Timothy; Matthews, Dennis; Cwik, Valerie; Druschel, Charlotte; Miller, Lisa; Meaney, F John; Sladky, John; Romitti, Paul A

2010-09-01

The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in 1 of the participating sites. Critical diagnostic elements of each abstracted record are reviewed independently by >4 clinicians and assigned to 1 of 6 case definition categories (definite, probable, possible, asymptomatic, female, not Duchenne/Becker muscular dystrophy) by consensus. As of November 2009, 815 potential cases were reviewed. Of the cases included in analysis, 674 (82%) were either ''definite'' or ''probable'' Duchenne/Becker muscular dystrophy. These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009.

Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies

OpenAIRE

Meola, G.

2013-01-01

Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert's disease) was described more than 100 years ago and is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) was identified only 18 years ago and is caused by a (CCTG)n expansion in ZNF9/CNBP....

Macular thickness after glaucoma filtration surgery.

Science.gov (United States)

Sesar, Antonio; Cavar, Ivan; Sesar, Anita Pusić; Geber, Mia Zorić; Sesar, Irena; Laus, Katia Novak; Vatavuk, Zoran; Mandić, Zdravko

2013-09-01

The aim of present study was to analyze early postoperative changes in the macular area using optical coherence tomography (OCT) after uncomplicated glaucoma filtration surgery. This prospective study included 32 patients (34 eyes) with open-angle glaucoma, which underwent trabeculectomy with or without use of mitomycin C. Exclusion criteria were macular edema, uveitis, age-related macular degeneration, blurred optical media, secondary glaucoma and angle-closure glaucoma. All standard clinical examinations were made before surgery, at the 2nd day, 1 week and 1 month after surgery. Tomography of the macula was performed during every examination using Cirrus HD OCT for the analysis of central subfield thickness. Results show that thickening of the macula was slightly higher 1 week and 1 month after operation in comparison with baseline end 2nd day postoperativelly. There was no significant difference in the change of macular thickness in patients who have used topical prostaglandins compared with those who have used other topical medications. Also, there was no difference in macular changes between patients treated with or without mitomycin C. In conclusion, we found a slight subclinical increase in macular thickness after uncomplicated trabeculectomy, for which we considered that was the result in reduction of intraocular pressure after glaucoma surgery. Macular thickening after glaucoma filtering surgery could be a physiological reaction to the stress of the retina caused by a sudden reduction of intraocular pressure and it is the consequence of altered relationship between capillary pressure and interstitial fluid pressure.

Monocyte chemoattractant protein 1, intercellular adhesion molecule 1, and vascular cell adhesion molecule 1 in exudative age-related macular degeneration.

Science.gov (United States)

Jonas, Jost B; Tao, Yong; Neumaier, Michael; Findeisen, Peter

2010-10-01

To examine intraocular concentrations of monocyte chemoattractant protein 1 (MCP-1), soluble intercellular adhesion molecule 1 (sICAM-1), soluble vascular cell adhesion molecule 1 (sVCAM-1), and vascular endothelial growth factor (VEGF) in eyes with exudative age-related macular degeneration (AMD). The investigation included a study group of 28 patients (28 eyes) with exudative AMD and a control group of 25 patients (25 eyes) with cataract. The concentrations of MCP-1, sICAM-1, sVCAM-1, and VEGF in aqueous humor samples obtained during surgery were measured using a solid-phase chemiluminescence immunoassay. The study group as compared with the control group had higher aqueous concentrations of sICAM-1 (mean [SD], 844 [2073] vs 246 [206] pg/mL, respectively; P < .001), sVCAM-1 (mean [SD], 7978 [7120] vs 2999 [1426] pg/mL, respectively; P < .001), and MCP-1 (mean [SD], 587 [338] vs 435 [221] pg/mL, respectively; P = .07). The concentration of VEGF did not vary significantly between the groups (P = .76). The MCP-1 concentration was significantly associated with macular thickness (r = 0.40; P = .004). It decreased significantly with the type of subfoveal neovascular membrane (classic membrane type, occult membrane, retinal pigment epithelium detachment) (P = .009). The concentrations of sICAM-1, sVCAM-1, and VEGF were not significantly associated with membrane type and macular thickness (P ≥ .18). Concentrations of MCP-1, sICAM-1, and sVCAM-1 are significantly associated with exudative AMD, even in the presence of normal VEGF concentrations. Intraocular MCP-1 concentrations are correlated with the subfoveal neovascular membrane type and the amount of macular edema. One may infer that MCP-1, sICAM-1, and sVCAM-1 could potentially be additional target molecules in therapy for exudative AMD.

What Is Macular Edema?

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Full Text Available ... Ophthalmology/Strabismus Ocular Pathology/Oncology Oculoplastics/Orbit Refractive Management/Intervention Retina/Vitreous Uveitis ... Macular Edema Sections What Is Macular Edema? What Causes Macular Edema? Macular ...

RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations

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Li eJiang

2014-04-01

Full Text Available RNA interference (RNAi knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal degeneration mouse models. The allele-specific model expresses transgenic bovine GCAP1(Y99C establishing a rapid RP-like phenotype, whereas the nonallele-specific model expresses mouse GCAP1(L151F producing a slowly progressing cone/rod dystrophy (CORD. The late onset GCAP1(L151F-CORD mimics the dystrophy observed in human GCAP1-CORD patients. Subretinal injection of scAAV2/8 carrying shRNA expression cassettes specific for bovine or mouse GCAP1 showed strong expression at one week post-injection. In both allele-specific (GCAP1(Y99C-RP and nonallele-specific (GCAP1(L151F-CORD models of dominant retinal dystrophy, RNAi-mediated gene silencing enhanced photoreceptor survival, delayed onset of degeneration and improved visual function. Such results provide a proof of concept toward effective RNAi-based gene therapy mediated by scAAV2/8 for dominant retinal disease based on GCAP1 mutation. Further, nonallele-specific RNAi knockdown of GCAP1 may prove generally applicable toward the rescue of any human GCAP1-based dominant cone-rod dystrophy.

Quantitative analysis of macular retinal thickness and macular volume in diabetic retinopathy

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Ying Zhao

2017-12-01

Full Text Available AIM: To evaluate and characterize the macular thickness and macular volume in patients of different stages of diabetic retinopathy with special-domain optical coherence tomography(SD-OCT. METHODS: Totally 40 patients(78 eyeswith diabetic retinopathy were recruited in the study from January 2016 to January 2017 in our hospital. According to the international clinical classification of diabetic retinopathy, 20 cases(40 eyeswere categorized as non-proliferative diabetic retinopathy(NPDRgroup and 20 cases proliferative diabetic retinopathy(PDRgroup(38 eyes. All subjects were examined and analyzed with Early Treatment Diabetic Retinopathy Study(ETDRSsubfields, which were embedded in HS(Haag-Streitwith diameter of 1, 3 and 6mm.The changes of retinal thickness and volume of the macular center were measured. RESULTS: The thickness of macular foveolar in NPDR group and PDR group were 252.57±31.36μm, 362.47±20.81μm. The retinal thickness of inner superior subfield(ISMand inner nasal subfield(INMwere the thickest; that of inner inferior subfield(IIMwas next to ISM and INM, and that of inner temporal subfield was the thinnest. Of the outer subfields, the retinal thickness of outer superior subfield(OSMwas the thickest; that of outer nasal subfield(ONMwas next to OSM, and that of outer temporal subfield(OTMand outer inferior subfield(OIMwas the thinnest. The value of macular central concave thickness and retinal thickness in each quadrant of the NPDR group were less than those of the PDR group, the difference was statistically significant(P3, 0.28±0.16mm3, the upper and nasal sides of the middle part of the partition were the largest, the inferior and the temporal side were the smallest. The nasal side of the outer loop was the largest, the upper was the second, the temporal side and the inferior were the smallest. The volume of macular central fovea and the retinal volume in each quadrant of the NPDR group were smaller than those of the PDR group, the

What Are the Types of Muscular Dystrophy?

Science.gov (United States)

... muscular dystrophy? There are more than 30 forms of muscular dystrophy (MD), with information on the primary types included in the table below. 1 Duchenne (DMD) What It Is Common Symptoms How It ...

Emerging strategies for cell and gene therapy of the muscular dystrophies

OpenAIRE

Muir, Lindsey A.; Chamberlain, Jeffrey S.

2009-01-01

The muscular dystrophies are a heterogeneous group of over 40 disorders that are characterised by muscle weakness and wasting. The most common are Duchenne muscular dystrophy and Becker muscular dystrophy, which result from mutations within the gene encoding dystrophin; myotonic dystrophy type 1, which results from an expanded trinucleotide repeat in the myotonic dystrophy protein kinase gene; and facioscapulohumeral dystrophy, which is associated with contractions in the subtelomeric region ...

Molecular mechanisms of muscle atrophy in myotonic dystrophies

OpenAIRE

Timchenko, Lubov

2013-01-01

Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, muscle atrophy, and muscle weakness. DM1 and DM2 pathologies are caused by expansion of CTG and CCTG repeats in non-coding regions of the genes encoding myotonic dystrophy protein kinase (DMPK) and Zinc finger protein 9 (ZNF9) respectively. These expansions cause DM pathologies through accumulation of mutant RNAs that alter RNA metabolism in p...

INDUCTION OF MACULAR DETACHMENT FOR THE TREATMENT OF PERSISTENT OR RECURRENT IDIOPATHIC MACULAR HOLES.

Science.gov (United States)

Szigiato, Andrei-Alexandru; Gilani, Fatimah; Walsh, Mark K; Mandelcorn, Efrem D; Muni, Rajeev H

2016-09-01

To analyze the efficacy of induced macular detachment for the treatment of persistent or recurrent idiopathic macular holes after treatment with one or more standard pars plana vitrectomies (PPVs) with internal limiting membrane peeling. This study is a retrospective consecutive case series of 10 patients who underwent a PPV with subretinal balanced salt solution injection from 2011 to 2014 to treat persistent or recurrent idiopathic macular holes. All patients had previously undergone PPV with internal limiting membrane peeling. Visual acuity, ocular examination findings, and optical coherence tomographic images were reviewed preoperatively and postoperatively to assess the anatomical and visual outcomes of this procedure. Nine of the 10 patients who underwent the procedure had closure of their macular holes postoperatively (90%) and remained closed 6 months postoperatively. Most patients reported a subjective visual improvement. A mean objective visual improvement of 16 letters (Early Treatment Diabetic Retinopathy Study, 0.324 logMAR) was seen between preoperative and 6-month postoperative assessments of all patients (pre = 1.490, post = 1.166; P = 0.022). Subgroup analysis of patients with successful closure revealed 20 letters of improvement (0.398 logMAR) in visual acuity (pre = 1.491, post = 1.093; P = 0.004). There were no intraoperative or postoperative complications. In eyes with persistent or recurrent idiopathic macular holes after standard PPV with internal limiting membrane peeling, repeat PPV with subretinal balanced salt solution injection to create a macular detachment may be a viable surgical treatment option. Our results show improved anatomical and visual outcomes postoperatively that compare favorably to other case series describing various surgical treatments for these challenging cases.

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...... was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na(+) -K(+) pump content. Results: Muscle strength correlated with a decline in Na(+) -K(+) pump content (r = 0.60, P

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)

Familial trends in a population with macular holes.

Science.gov (United States)

Kay, Christine Nichols; Pavan, Peter Reed; Small, Laurie Buccina; Zhang, Tao; Zamba, Gideon K D; Cohen, Steven Myles

2012-04-01

To determine if patients with macular hole report an increased family history of macular hole compared with control patients and compare the report of family history between patients with unilateral and bilateral macular holes. This was a multicenter case-control study. Charts of patients coded with diagnosis of macular hole were reviewed, and the diagnosis of idiopathic full-thickness macular hole was ascertained in 166 patients. The control group comprised 136 patients without macular hole or trauma who presented with senile cataract. Family history was obtained from all patients through a telephone interview. Six of 166 (3.6%) macular hole patients surveyed reported a history of macular hole in a primary relative compared with none of 136 (0.0%) control patients (odds ratio is infinity, with 95% confidence interval 1.295 to infinity); however, this finding may be explained by confounders such as age and number of family members. Two of the 142 (1.4%) patients with unilateral holes versus 4 of the 24 (16.7%) patients with bilateral holes reported a family history (odds ratio is 0.0714, with 95% confidence interval 0.0063 to 0.5537), and this finding remains significant when logistic regression is performed to evaluate variables of age and number of family members as potential confounders. There is an increased report of familial occurrence of macular hole in patients with macular holes compared with control patients; however, logistic regression relates this finding to variables of age and number of family members. Patients with bilateral macular holes are more likely to report a family history of macular hole than patients with unilateral macular holes, and this finding remains significant in the presence of age and number of family members. These findings may suggest a familial component to macular hole.

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.

What Is Macular Edema?

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Full Text Available ... Eye Health A-Z Symptoms Glasses & Contacts Tips & Prevention News Ask an Ophthalmologist Patient Stories Español Eye ... Macular Edema Symptoms Macular Edema Diagnosis Macular Edema Treatment What Is Macular Edema? Leer en Español: ¿Qué ...

Morphologic imaging in muscular dystrophies and inflammatory myopathies

International Nuclear Information System (INIS)

Degardin, Adrian; Lacour, Arnaud; Vermersch, Patrick; Morillon, David; Cotten, Anne; Stojkovic, Tanya

2010-01-01

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.)

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.)

PAI-1–regulated miR-21 defines a novel age-associated fibrogenic pathway in muscular dystrophy

Science.gov (United States)

Ardite, Esther; Perdiguero, Eusebio; Vidal, Berta; Gutarra, Susana; Serrano, Antonio L.

2012-01-01

Disruption of skeletal muscle homeostasis by substitution with fibrotic tissue constitutes the principal cause of death in Duchenne muscular dystrophy (DMD) patients, yet the implicated fibrogenic mechanisms remain poorly understood. This study identifies the extracellular PAI-1/urokinase-type plasminogen activator (uPA) balance as an important regulator of microribonucleic acid (miR)–21 biogenesis, controlling age-associated muscle fibrosis and dystrophy progression. Genetic loss of PAI-1 in mdx dystrophic mice anticipated muscle fibrosis through these sequential mechanisms: the alteration of collagen metabolism by uPA-mediated proteolytic processing of transforming growth factor (TGF)–β in muscle fibroblasts and the activation of miR-21 expression, which inhibited phosphatase and tensin homologue and enhanced AKT signaling, thus endowing TGF-β with a remarkable cell proliferation–promoting potential. Age-associated fibrogenesis and muscle deterioration in mdx mice, as well as exacerbated dystrophy in young PAI-1−/− mdx mice, could be reversed by miR-21 or uPA-selective interference, whereas forced miR-21 overexpression aggravated disease severity. The PAI-1–miR-21 fibrogenic axis also appeared dysregulated in muscle of DMD patients, providing a basis for effectively targeting fibrosis and muscular dystrophies in currently untreatable individuals. PMID:22213800

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.

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.

What Is Macular Edema?

Medline Plus

Full Text Available ... Macular Edema Treatment What Is Macular Edema? Leer en Español: ¿Qué es un edema macular? Dec. 01, 2010 Macular edema is swelling or thickening of the eye's macula, the part of your eye responsible for detailed, central vision. The macula is a very small area ...

Internal limiting membrane flap transposition for surgical repair of macular holes in primary surgery and in persistent macular holes.

Science.gov (United States)

Leisser, Christoph; Hirnschall, Nino; Döller, Birgit; Varsits, Ralph; Ullrich, Marlies; Kefer, Katharina; Findl, Oliver

2018-03-01

Classical or temporal internal limiting membrane (ILM) flap transposition with air or gas tamponade are current trends with the potential to improve surgical results, especially in cases with large macular holes. A prospective case series included patients with idiopathic macular holes or persistent macular holes after 23-G pars plana vitrectomy (PPV) and ILM peeling with gas tamponade. In all patients, 23-G PPV and ILM peeling with ILM flap transposition with gas tamponade and postoperative face-down position was performed. In 7 of 9 eyes, temporal ILM flap transposition combined with pedicle ILM flap could be successfully performed and macular holes were closed in all eyes after surgery. The remaining 2 eyes were converted to pedicle ILM flap transposition with macular hole closure after surgery. Three eyes were scheduled as pedicle ILM flap transposition due to previous ILM peeling. In 2 of these eyes, the macular hole could be closed with pedicle ILM flap transposition. In 3 eyes, free ILM flap transposition was performed and in 2 of these eyes macular hole could be closed after surgery, whereas in 1 eye a second surgery, performed as pedicle ILM flap transposition, was performed and led to successful macular hole closure. Use of ILM flaps in surgical repair of macular hole surgery is a new option of treatment with excellent results independent of the diameter of macular holes. For patients with persistent macular holes, pedicle ILM flap transposition or free ILM flap transposition are surgical options.

Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome)

OpenAIRE

Cacucci, Laura; Ricci, Beatrice; Moretti, Maria; Gasparini, Giulio; Pelo, Sandro; Grippaudo, Cristina

2017-01-01

Myotonic dystrophy, or Steinert’s disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewin...

Macular Buckling Surgery for Retinal Detachment Associated with Macular Hole in High Myopia Eye

Directory of Open Access Journals (Sweden)

Kenan Sönmez

2017-12-01

Full Text Available A 68-year-old woman presented to our clinic with a 1-month history of central scotoma and visual loss in her right eye. The best corrected visual acuity (BCVA was hand motion in her right eye. Fundus examination showed myopic chorioretinal degeneration in association with posterior staphyloma and the retina was slightly elevated throughout the macula. Optical coherence tomography (OCT revealed retinal detachment involving the posterior pole with a macular hole and staphyloma. The patient underwent pars plana vitrectomy, internal limiting membrane peeling, macular buckling, and perfluoropropane gas tamponade. At 3-month follow-up, her BCVA was improved to counting fingers at 1 meter and flattened retina with closed macular hole was observed by OCT. Myopic macular hole with retinal detachment associated with posterior staphyloma represent a challenge regarding their management and several surgical techniques have been described. Although satisfactory anatomical improvement is achieved in these eyes after surgery, the visual acuity outcomes may be poorer than expected due to the chorioretinal atrophy at the posterior pole.

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.

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Science.gov (United States)

Waddell, Leigh B; Lemckert, Frances A; Zheng, Xi F; Tran, Jenny; Evesson, Frances J; Hawkes, Joanne M; Lek, Angela; Street, Neil E; Lin, Peihui; Clarke, Nigel F; Landstrom, Andrew P; Ackerman, Michael J; Weisleder, Noah; Ma, Jianjie; North, Kathryn N; Cooper, Sandra T

2011-04-01

Mutations in dysferlin cause an inherited muscular dystrophy because of defective membrane repair. Three interacting partners of dysferlin are also implicated in membrane resealing: caveolin-3 (in limb girdle muscular dystrophy type 1C), annexin A1, and the newly identified protein mitsugumin 53 (MG53). Mitsugumin 53 accumulates at sites of membrane damage, and MG53-knockout mice display a progressive muscular dystrophy. This study explored the expression and localization of MG53 in human skeletal muscle, how membrane repair proteins are modulated in various forms of muscular dystrophy, and whether MG53 is a primary cause of human muscle disease. Mitsugumin 53 showed variable sarcolemmal and/or cytoplasmic immunolabeling in control human muscle and elevated levels in dystrophic patients. No pathogenic MG53 mutations were identified in 50 muscular dystrophy patients, suggesting that MG53 is unlikely to be a common cause of muscular dystrophy in Australia. Western blot analysis confirmed upregulation of MG53, as well as of dysferlin, annexin A1, and caveolin-3 to different degrees, in different muscular dystrophies. Importantly, MG53, annexin A1, and dysferlin localize to the t-tubule network and show enriched labeling at longitudinal tubules of the t-system in overstretch. Our results suggest that longitudinal tubules of the t-system may represent sites of physiological membrane damage targeted by this membrane repair complex.

Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity?

Science.gov (United States)

Møller, H U

1989-12-01

This paper maintains that Reis-Bücklers' corneal dystrophy and granular corneal dystrophy Groenouw type I are one and the same disease. Included are some of the technically best photographs of Reis-Bücklers' dystrophy found in the literature, and these are compared with photographs from patients with granular corneal dystrophy examined by the author. It is argued that most of the histological and ultrastructural findings on Reis Bücklers' dystrophy described in the literature are either congruent with what is found in granular corneal dystrophy or unspecific.

Monitoring macular pigment changes in macular holes using fluorescence lifetime imaging ophthalmoscopy.

Science.gov (United States)

Sauer, Lydia; Peters, Sven; Schmidt, Johanna; Schweitzer, Dietrich; Klemm, Matthias; Ramm, Lisa; Augsten, Regine; Hammer, Martin

2017-08-01

To investigate the impact of macular pigment (MP) on fundus autofluorescence (FAF) lifetimes in vivo by characterizing full-thickness idiopathic macular holes (MH) and macular pseudo-holes (MPH). A total of 37 patients with MH and 52 with MPH were included. Using the fluorescence lifetime imaging ophthalmoscope (FLIO), based on a Heidelberg Engineering Spectralis system, a 30° retinal field was investigated. FAF decays were detected in a short (498-560 nm; ch1) and long (560-720 nm; ch2) wavelength channel. τ m , the mean fluorescence lifetime, was calculated from a three-exponential approximation of the FAF decays. Macular coherence tomography scans were recorded, and macular pigment's optical density (MPOD) was measured (one-wavelength reflectometry). Two MH subgroups were analysed according to the presence or absence of an operculum above the MH. A total of 17 healthy fellow eyes were included. A longitudinal FAF decay examination was conducted in nine patients, which were followed up after surgery and showed a closed MH. In MH without opercula, significant τ m differences (p hole area (MHa) and surrounding areas (MHb) (ch1: MHa 238 ± 64 ps, MHb 181 ± 78 ps; ch2: MHa 275 ± 49 ps, MHb 223 ± 48 ps), as well as between MHa and healthy eyes or closed MH. Shorter τ m , adjacent to the hole, can be assigned to areas with equivalently higher MPOD. Opercula containing MP also show short τ m . In MPH, the intactness of the Hele fibre layer is associated with shortest τ m . Shortest τ m originates from MP-containing retinal layers, especially from the Henle fibre layer. Fluorescence lifetime imaging ophthalmoscope (FLIO) provides information on the MP distribution, the pathogenesis and topology of MH. Macular pigment (MP) fluorescence may provide a biomarker for monitoring pathological changes in retinal diseases. © 2016 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

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....

Individual Test Point Fluctuations of Macular Sensitivity in Healthy Eyes and Eyes With Age-Related Macular Degeneration Measured With Microperimetry.

Science.gov (United States)

Barboni, Mirella Telles Salgueiro; Szepessy, Zsuzsanna; Ventura, Dora Fix; Németh, János

2018-04-01

To establish fluctuation limits, it was considered that not only overall macular sensitivity but also fluctuations of individual test points in the macula might have clinical value. Three repeated measurements of microperimetry were performed using the Standard Expert test of Macular Integrity Assessment (MAIA) in healthy subjects ( N = 12, age = 23.8 ± 1.5 years old) and in patients with age-related macular degeneration (AMD) ( N = 11, age = 68.5 ± 7.4 years old). A total of 37 macular points arranged in four concentric rings and in four quadrants were analyzed individually and in groups. The data show low fluctuation of macular sensitivity of individual test points in healthy subjects (average = 1.38 ± 0.28 dB) and AMD patients (average = 2.12 ± 0.60 dB). Lower sensitivity points are more related to higher fluctuation than to the distance from the central point. Fixation stability showed no effect on the sensitivity fluctuation. The 95th percentile of the standard deviations of healthy subjects was, on average, 2.7 dB, ranging from 1.2 to 4 dB, depending on the point tested. Point analysis and regional analysis might be considered prior to evaluating macular sensitivity fluctuation in order to distinguish between normal variation and a clinical change. S tatistical methods were used to compare repeated microperimetry measurements and to establish fluctuation limits of the macular sensitivity. This analysis could add information regarding the integrity of different macular areas and provide new insights into fixation points prior to the biofeedback fixation training.

1H and 31P nuclear magnetic resonance spectroscopy of erythrocyte extracts in myotonic muscular dystrophy

International Nuclear Information System (INIS)

Gadoth, N.; Grinblat, J.; Tel Aviv Univ.; Shvo, H.; Navon, G.

1984-01-01

Extracts freshly prepared from erythrocytes of patients with myotonic muscular dystrophy, their unaffected siblings, and normal control subjects were examined with both 1 H and 31 P nuclear magnetic resonance spectroscopy. A moderate variability was found in the relative amounts of various nonphosphorylated compounds among patients and control subjects; however, no significant differences were found between the groups. As for the phosphorylated compounds, the sum of ADP+ATP was found significantly elevated in the myotonic muscular dystrophy patients

Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency

Directory of Open Access Journals (Sweden)

Ken Takeshima

2018-01-01

Full Text Available Myotonic dystrophy type 1 (DM1 is an autosomal dominant multisystem disease affecting muscles, the eyes and the endocrine organs. Diabetes mellitus and primary hypogonadism are endocrine manifestations typically seen in patients with DM1. Abnormalities of hypothalamic–pituitary–adrenal (HPA axis have also been reported in some DM1 patients. We present a case of DM1 with a rare combination of multiple endocrinopathies; diabetes mellitus, a combined form of primary and secondary hypogonadism, and dysfunction of the HPA axis. In the present case, diabetes mellitus was characterized by severe insulin resistance with hyperinsulinemia. Glycemic control improved after modification of insulin sensitizers, such as metformin and pioglitazone. Hypogonadism was treated with testosterone replacement therapy. Notably, body composition analysis revealed increase in muscle mass and decrease in fat mass in our patient. This implies that manifestations of hypogonadism could be hidden by symptoms of myotonic dystrophy. Our patient had no symptoms associated with adrenal deficiency, so adrenal dysfunction was carefully followed up without hydrocortisone replacement therapy. In this report, we highlight the necessity for evaluation and treatment of multiple endocrinopathies in patients with DM1.

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

Correlation between choroidal thickness and macular hole

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Li-Li Wang

2018-01-01

Full Text Available AIM:To explore the correlation between choroidal thickness and macular hole, and to provide a theoretical basis for diagnosis and treatment of macular hole. METHODS: This study included 40 cases of monocular idiopathic macular hole patients who were treated in ophthalmology of our hospital from June 2015 to June 2016 and 40 cases of healthy people. Sicked eyes of idiopathic macular hole patients(40 eyeswere set as the Group A, uninjured side eyes(40 eyeswere set as the Group B, eyes of 40 cases of healthy people(40 normal eyeswere set as the Group C. Choroidal thickness of macular fovea, macular fovea 1mm, 3mm at 9 points, 4 directions in the upper, lower, nasal and temporal regions were measured through coherent optical tomography of enhanced deep imaging(enhanced depth image optical coherence tomography, EDI-OCT. They were recorded as SFCT, SCT1mm, SCT3mm, ICT1mm, ICT3mm, NCT1mm, NCT3mm, TCT1mm, TCT3mm, and correlation analysis between SFCT and age was analyzed. RESULTS: Average SFCT of Group A, B had no significant difference, data of the Group C was significantly higher than those of the Group A, B, there was statistical significance(P1mm, SCT3mm, ICT1mm, ICT3mm, NCT1mm, NCT3mm, TCT1mm, TCT3mm of the Group A, B had no significant difference(P>0.05, and choroidal thickness at each point of the Group C was significantly higher than that of Group A and B, there was statistical significance(Pr=-0.065, P=0.148; r=-0.057, P=0.658, SFCT of the Group C was negatively correlated with age(r=-0.343, P=0.041. CONCLUSION: The pathogenesis of idiopathic macular hole may be related to the sharp decrease of choroidal thickness, choroidal thickness of uninjured side eyes reduces more sharply than normal population and choroidal vascular metabolism reduces may be pathogenic.

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.

Rhabdomyolysis featuring muscular dystrophies.

Science.gov (United States)

Lahoria, Rajat; Milone, Margherita

2016-02-15

Rhabdomyolysis is a potentially life threatening condition of various etiology. The association between rhabdomyolysis and muscular dystrophies is under-recognized in clinical practice. To identify muscular dystrophies presenting with rhabdomyolysis at onset or as predominant feature. We retrospectively reviewed clinical and laboratory data of patients with a genetically confirmed muscular dystrophy in whom rhabdomyolysis was the presenting or main clinical manifestation. Thirteen unrelated patients (males=6; females=7) were identified. Median age at time of rhabdomyolysis was 18 years (range, 2-47) and median duration between the first episode of rhabdomyolysis and molecular diagnosis was 2 years. Fukutin-related protein (FKRP) muscular dystrophy (n=6) was the most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) and dystrophinopathy (n=2). Four patients experienced recurrent rhabdomyolysis. Eight patients were asymptomatic and 3 reported myalgia and exercise intolerance prior to the rhabdomyolysis. Exercise (n=6) and fever (n=4) were common triggers; rhabdomyolysis was unprovoked in 3 patients. Twelve patients required hospitalization. Baseline CK levels were elevated in all patients (median 1200 IU/L; range, 600-3600). Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. A persistently elevated CK level in patients with rhabdomyolysis warrants consideration for underlying muscular dystrophy. Copyright © 2015 Elsevier B.V. All rights reserved.

Macular xanthophylls and ω-3 long-chain polyunsaturated fatty acids in age-related macular degeneration: a randomized trial.

Science.gov (United States)

Arnold, Christin; Winter, Lisa; Fröhlich, Kati; Jentsch, Susanne; Dawczynski, Jens; Jahreis, Gerhard; Böhm, Volker

2013-05-01

It has been shown that the functionality of the macula lutea depends on the nutritional uptake of lutein and zeaxanthin and that it is inversely associated with the risk of age-related macular degeneration (AMD). Additionally, ω-3 long-chain polyunsaturated fatty acids (LC-PUFAs) may also be protective. To investigate the effect of a 12-month intervention with macular xanthophylls and ω-3 LC-PUFAs on xanthophylls and fatty acids in plasma, antioxidant capacity, and optical density of the macular pigment of patients with nonexudative AMD. The LUTEGA study was a randomized, double-blind, placebo-controlled, parallel clinical trial that was conducted for 12 months. University Eye Hospital and Institute of Nutrition, Friedrich Schiller University Jena, Germany. A total of 172 individuals with nonexudative AMD. Individuals were enrolled and randomly divided as follows: placebo group, group 1 (a capsule containing 10 mg of lutein, 1 mg of zeaxanthin, 100 mg of docosahexaenoic acid, and 30 mg of eicosapentaenoic acid administered each day), and group 2 (same substances but twice the dose used in group 1). One hundred forty-five participants completed the study successfully. Plasma xanthophyll concentrations and fatty acid profiles, optical density of the macular pigment, and antioxidant capacity in plasma (6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid [Trolox] equivalent antioxidant capacity and photochemiluminescence). The concentrations of the administered carotenoids in plasma as well as the optical density of the macular pigment increased significantly in the groups randomized to receive supplementary macular xanthophylls and ω-3 LC-PUFAs after 1 month of intervention and remained at this level through the end of the study. Use of the double dose resulted in a beneficial alteration of the fatty acid profile in the plasma of patients with AMD in comparison with the dose in group 1. The lipophilic antioxidant capacity in plasma was significantly elevated

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 ...

Muscular dystrophy in a dog resembling human becker muscular dystrophy.

Science.gov (United States)

Baroncelli, A B; Abellonio, F; Pagano, T B; Esposito, I; Peirone, B; Papparella, S; Paciello, O

2014-05-01

A 3-year-old, male Labrador retriever dog was presented with clinical signs of progressive exercise intolerance, bilateral elbow extension, rigidity of the forelimbs, hindlimb flexion and kyphosis. Microscopical examination of muscle tissue showed marked variability in myofibre size, replacement of muscle with mature adipose tissue and degeneration/regeneration of muscle fibres, consistent with muscular dystrophy. Immunohistochemical examination for dystrophin showed markedly reduced labelling with monoclonal antibodies specific for the rod domain and the carboxy-terminal of dystrophin, while expression of β-sarcoglycan, γ-sarcoglycan and β-dystroglycan was normal. Immunoblotting revealed a truncated dystrophin protein of approximately 135 kDa. These findings supported a diagnosis of congenital canine muscular dystrophy resembling Becker muscular dystrophy in man. Copyright © 2014 Elsevier Ltd. All rights reserved.

Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium

OpenAIRE

Bhattacharya, Sujoy; Yin, Jinggang; Winborn, Christina S.; Zhang, Qiuhua; Yue, Junming; Chaum, Edward

2017-01-01

Purpose Prominin-1 (Prom1) is a transmembrane glycoprotein, which is expressed in stem cell lineages, and has recently been implicated in cancer stem cell survival. Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4). Despite the apparent structural role of Prom1 in photoreceptors, its role in other cells of the retina is unknown. The purpose of this study is to investigate the...

What Is Age-Related Macular Degeneration?

Science.gov (United States)

... Eye Health / Eye Health A-Z Age-Related Macular Degeneration Sections What Is Macular Degeneration? How is AMD ... What Does Macular Degeneration Look Like? What Is Macular Degeneration? Leer en Español: ¿Qué es la degeneración macular ...

Survey of Canadian Myotonic Dystrophy Patients' Access to Computer Technology.

Science.gov (United States)

Climans, Seth A; Piechowicz, Christine; Koopman, Wilma J; Venance, Shannon L

2017-09-01

Myotonic dystrophy type 1 is an autosomal dominant condition affecting distal hand strength, energy, and cognition. Increasingly, patients and families are seeking information online. An online neuromuscular patient portal under development can help patients access resources and interact with each other regardless of location. It is unknown how individuals living with myotonic dystrophy interact with technology and whether barriers to access exist. We aimed to characterize technology use among participants with myotonic dystrophy and to determine whether there is interest in a patient portal. Surveys were mailed to 156 participants with myotonic dystrophy type 1 registered with the Canadian Neuromuscular Disease Registry. Seventy-five participants (60% female) responded; almost half were younger than 46 years. Most (84%) used the internet; almost half of the responders (47%) used social media. The complexity and cost of technology were commonly cited reasons not to use technology. The majority of responders (76%) were interested in a myotonic dystrophy patient portal. Patients in a Canada-wide registry of myotonic dystrophy have access to and use technology such as computers and mobile phones. These patients expressed interest in a portal that would provide them with an opportunity to network with others with myotonic dystrophy and to access information about the disease.

Molecular and preclinical aspects of antisense oligonucleotide treatment for myotonic dystrophy type 1

NARCIS (Netherlands)

Gonzalez Barriga, A.M.M.

2017-01-01

Myotonic Dystrophy type 1 (DM1) is a genetic disorder caused by an expansion of a (CTG)n repeat in the DMPK gene, which is carried by all individuals, but normally contains less than 37 triplets. Only when this threshold is exceeded the person carrying it will develop DM1, with an age of onset and

Visual outcomes of macular hole surgery

International Nuclear Information System (INIS)

Khaqan, H.A.; Muhammad, F.J.

2016-01-01

To determine the mean visual improvement after internal limiting membrane (ILM) peeling assisted with brilliant blue staining of ILM in macular hole, and stratify the mean visual improvement in different stages of macular hole. Study Design: Quasi-experimental study. Place and Duration of Study: Eye outpatient department (OPD), Lahore General Hospital, Lahore from October 2013 to December 2014. Methodology: Patients with macular hole underwent measurement of best corrected visual acuity (BCVA) and fundus examination with indirect slit lamp biomicroscopy before surgery. The diagnosis of all patients was confirmed on optical coherence tomography. All patients had 23G trans-conjunctival three ports pars plana vitrectomy, ILM peeling, and endotamponade of SF6. The mean visual improvement of different stages of macular hole was noted. Paired t-test was applied. Results: There were 30 patients, 15 males and 15 females (50%). The mean age was 62 ± 10.95 years. They presented with low mean preoperative visual acuity (VA) of 0.96 ± 0.11 logMar. The mean postoperative VA was 0.63 ± 0.24 logMar. The mean visual increase was 0.33 0.22 logMar (p < 0.001). In patients with stage 2 macular hole, mean visual increase was 0.35 ± 0.20 logMar (p < 0.001). In patients with stage 3 macular hole, mean visual increase was 0.44 ± 0.21 logMar (p < 0.001), and in patients with stage 4 macular hole it was 0.13 ± 0.1 logMar (p = 0.004). Conclusion: ILM peeling assisted with brilliant blue is a promising surgery for those patients who have decreased vision due to macular hole, in 2 - 4 stages of macular hole. (author)

Genetics Home Reference: Fukuyama congenital muscular dystrophy

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... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

Efficacy of autologous platelets in macular hole surgery

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Konstantinidis A

2013-04-01

Full Text Available Aristeidis Konstantinidis,1,2 Mark Hero,2 Panagiotis Nanos,1 Georgios D Panos1,3 1Department of Ophthalmology, University Hospital of Alexandroupolis, Alexandroupolis, Greece; 2Opthalmology Department, University Hospital Coventry and Warwickshire, Coventry, UK; 3Department of Ophthalmology, University Hospitals of Geneva, Geneva, Switzerland Abstract: The introduction of optical coherence tomography has allowed accurate measurement of the size of macular holes. A retrospective consecutive review was performed of 21 patients undergoing macular hole repair with vitrectomy, gas tamponade, and autologous platelet injection and we assessed the effect of macular hole parameters on anatomic and functional outcomes. We looked at the demographic features, final visual outcome, and anatomical closure. Twenty-one patients were included in the study. They underwent routine vitrectomy with gas tamponade (C3F8 and injection of autologous platelets. All patients were advised to maintain a facedown posture for 2 weeks. Anatomical closure was confirmed in all cases and 20 out of 21 of patients had improved postoperative visual acuity by two or more lines. In our series, the macular hole dimensions did not have much effect on the final results. The use of autologous platelets and strict facedown posture seems to be the deciding factor in good anatomical and visual outcome irrespective of macular hole dimensions. Keywords: macular hole, platelets, vitrectomy

Autologous transplantation of the internal limiting membrane for refractory macular holes.

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Morizane, Yuki; Shiraga, Fumio; Kimura, Shuhei; Hosokawa, Mio; Shiode, Yusuke; Kawata, Tetsuhiro; Hosogi, Mika; Shirakata, Yukari; Okanouchi, Toshio

2014-04-01

To determine the effectiveness of autologous transplantation of the internal limiting membrane (ILM) for refractory macular holes. Prospective, interventional case series. Ten eyes of 10 consecutive patients who underwent autologous transplantation of the ILM for the treatment of refractory macular holes were studied. The primary diseases in these patients were large idiopathic macular holes that had existed for more than 1 year (4 eyes), a traumatic macular hole (1 eye), myopic foveoschisis (2 eyes), foveoschisis resulting from pit-macular syndrome (2 eyes), and proliferative diabetic retinopathy (1 eye). Apart from the 5 eyes with idiopathic or traumatic macular holes, macular holes developed in the other 5 eyes after initial vitrectomies with ILM removal. In all eyes, regular macular hole surgery failed to achieve closure. The main outcome measures used in this study were macular hole closure and best-corrected visual acuity (BCVA). Macular holes were closed successfully in 9 eyes (90%) after autologous transplantation of the ILM. The postoperative BCVAs were significantly better than the preoperative BCVAs (P = .007, paired t test). Postoperative BCVAs improved by more than 0.2 logarithm of the minimal angle of resolution units in 8 eyes (80%) and were unchanged in 2 eyes (20%). Although this is a pilot study, the results suggest that autologous transplantation of the ILM may contribute to improved anatomic and visual outcomes in the treatment of refractory macular holes and may warrant further investigation. Copyright © 2014 Elsevier Inc. All rights reserved.

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

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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

Orocaecal transit time in Duchenne muscular dystrophy.

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Korman, S H; Bar-Oz, B; Granot, E; Meyer, S

1991-01-01

Smooth muscle degeneration may occur in Duchenne muscular dystrophy. We measured fasting orocaecal transit time in patients with advanced Duchenne muscular dystrophy and other muscular dystrophies and in healthy controls. No significant differences were found. In contrast to reports of gastric hypomotility in Duchenne muscular dystrophy, we found no evidence of impaired small intestinal motility.

Sleep disturbances in myotonic dystrophy type 2

OpenAIRE

Shepard, Paul; Lam, Erek M.; St. Louis, Erik K.; Dominik, Jacob

2012-01-01

Sleep disorders in myotonic dystrophy type 1 (DM1) are common and include sleep disordered breathing (SDB), hypersomnia, and fatigue. Little is known regarding the occurrence of sleep disturbance in myotonic dystrophy type 2 (DM2). We hypothesized that DM2 patients may frequently harbor sleep disorders. We reviewed medical records of all genetically confirmed cases of DM2 seen at our sleep center between 1997 and 2010 for demographic, laboratory, overnight oximetry, and polysomnography (PSG) ...

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

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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

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

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Nowinska, Anna K; Teper, Sławomir J; Janiszewska, Dominika A; Lyssek-Boron, Anita; Dobrowolski, Dariusz; Koprowski, Robert; Wylegala, Edward

2015-01-01

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). 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. 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. 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.

Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity.

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Simona Portaro

Full Text Available Myotonic dystrophy type 1 (DM1 is the most prevalent adult muscular dystrophy, often accompanied by impairments in attention, memory, visuospatial and executive functions. Given that DM1 is a multi-system disorder, it requires a multi-disciplinary approach, including effective rehabilitation programs, focusing on the central nervous system neuroplasticity, in order to develop patient-tailored rehabilitative procedures for motor function recovery. Herein, we performed a transcranial magnetic stimulation (TMS study aimed at investigating central motor conduction time, sensory-motor plasticity, and cortical excitability in 7 genetically defined DM1 patients. As compared to healthy individuals, DM1 patients showed a delayed central motor conduction time and an abnormal sensory-motor plasticity, with no alteration of cortical excitability. These findings may be useful to define patient-tailored motor rehabilitative programs.

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.

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Cécile Méjécase

Full Text Available GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a patient with late-onset rod-cone dystrophy. After exclusion of mutations in genes underlying progressive inherited retinal disorders, by targeted next generation sequencing, a 32 year-old male sporadic case with severe rod-cone dystrophy and his unaffected parents were investigated by whole exome sequencing. This led to the identification of a homozygous nonsense variant, c.963C>A p.(Cys321* in GNAT1, which was confirmed by Sanger sequencing. The mother was heterozygous for this variant whereas the variant was absent in the father. c.963C>A p.(Cys321* is predicted to produce a shorter protein that lacks critical sites for the phototransduction cascade. Our work confirms that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosomal recessive rod-cone dystrophy.

Fnip1 regulates skeletal muscle fiber type specification, fatigue resistance, and susceptibility to muscular dystrophy

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Reyes, Nicholas L.; Banks, Glen B.; Tsang, Mark; Margineantu, Daciana; Gu, Haiwei; Djukovic, Danijel; Chan, Jacky; Torres, Michelle; Liggitt, H. Denny; Hirenallur-S, Dinesh K.; Hockenbery, David M.; Raftery, Daniel; Iritani, Brian M.

2015-01-01

Mammalian skeletal muscle is broadly characterized by the presence of two distinct categories of muscle fibers called type I “red” slow twitch and type II “white” fast twitch, which display marked differences in contraction strength, metabolic strategies, and susceptibility to fatigue. The relative representation of each fiber type can have major influences on susceptibility to obesity, diabetes, and muscular dystrophies. However, the molecular factors controlling fiber type specification remain incompletely defined. In this study, we describe the control of fiber type specification and susceptibility to metabolic disease by folliculin interacting protein-1 (Fnip1). Using Fnip1 null mice, we found that loss of Fnip1 increased the representation of type I fibers characterized by increased myoglobin, slow twitch markers [myosin heavy chain 7 (MyH7), succinate dehydrogenase, troponin I 1, troponin C1, troponin T1], capillary density, and mitochondria number. Cultured Fnip1-null muscle fibers had higher oxidative capacity, and isolated Fnip1-null skeletal muscles were more resistant to postcontraction fatigue relative to WT skeletal muscles. Biochemical analyses revealed increased activation of the metabolic sensor AMP kinase (AMPK), and increased expression of the AMPK-target and transcriptional coactivator PGC1α in Fnip1 null skeletal muscle. Genetic disruption of PGC1α rescued normal levels of type I fiber markers MyH7 and myoglobin in Fnip1-null mice. Remarkably, loss of Fnip1 profoundly mitigated muscle damage in a murine model of Duchenne muscular dystrophy. These results indicate that Fnip1 controls skeletal muscle fiber type specification and warrant further study to determine whether inhibition of Fnip1 has therapeutic potential in muscular dystrophy diseases. PMID:25548157

Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?

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Antonio Costantini

2016-01-01

Full Text Available Myotonic dystrophy type 1, also known as Steinert′s disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1 is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and peripheral nervous system, as well as in the muscular cells. Our aim was to investigate the potential therapeutical effects of long-term treatment with thiamine in myotonic dystrophy type 1 in an observational open-label pilot study. We described two patients with myotonic dystrophy type 1 treated with intramuscular thiamine 100 mg twice a week for 12 or 11 months. We evaluated the patients using the grading of muscle strength according to Medical Research Council (MRC, the Muscular Impairment Rating Scale (MIRS, and the Modified Barthel index. High-dose thiamine treatment was well tolerated and effective in improving the motor symptomatology, particularly the muscle strength evaluated with the MRC scale, and the patients′ activities of daily living using the Modified Barthel Index. At the end of treatment, the MRC score was 5 in the proximal muscles and 2-4 in the distal muscles (the MRC score before the treatment was 3-4 and 1-3, respectively. The MIRS grade improved by 25% compared to baseline for both patients. In patient #1, the Modified Barthel Index improved by 44%, and in patient #2 by 29%. These findings suggest that clinical outcomes are improved by long-term thiamine treatment.

Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?

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Costantini, Antonio; Trevi, Erika; Pala, Maria Immacolata; Fancellu, Roberto

2016-09-01

Myotonic dystrophy type 1, also known as Steinert's disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and peripheral nervous system, as well as in the muscular cells. Our aim was to investigate the potential therapeutical effects of long-term treatment with thiamine in myotonic dystrophy type 1 in an observational open-label pilot study. We described two patients with myotonic dystrophy type 1 treated with intramuscular thiamine 100 mg twice a week for 12 or 11 months. We evaluated the patients using the grading of muscle strength according to Medical Research Council (MRC), the Muscular Impairment Rating Scale (MIRS), and the Modified Barthel index. High-dose thiamine treatment was well tolerated and effective in improving the motor symptomatology, particularly the muscle strength evaluated with the MRC scale, and the patients' activities of daily living using the Modified Barthel Index. At the end of treatment, the MRC score was 5 in the proximal muscles and 2-4 in the distal muscles (the MRC score before the treatment was 3-4 and 1-3, respectively). The MIRS grade improved by 25% compared to baseline for both patients. In patient #1, the Modified Barthel Index improved by 44%, and in patient #2 by 29%. These findings suggest that clinical outcomes are improved by long-term thiamine treatment.

Complications of Macular Peeling

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Asencio-Duran, Mónica; Manzano-Muñoz, Beatriz; Vallejo-García, José Luis; García-Martínez, Jesús

2015-01-01

Macular peeling refers to the surgical technique for the removal of preretinal tissue or the internal limiting membrane (ILM) in the macula for several retinal disorders, ranging from epiretinal membranes (primary or secondary to diabetic retinopathy, retinal detachment…) to full-thickness macular holes, macular edema, foveal retinoschisis, and others. The technique has evolved in the last two decades, and the different instrumentations and adjuncts have progressively advanced turning into a safer, easier, and more useful tool for the vitreoretinal surgeon. Here, we describe the main milestones of macular peeling, drawing attention to its associated complications. PMID:26425351

Genetics Home Reference: Duchenne and Becker muscular dystrophy

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... Conditions Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Printable PDF Open All Close All Enable Javascript ... dystrophy occur almost exclusively in males. Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused ...

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

International Nuclear Information System (INIS)

Saraiva, Fabio Petersen; Costa, Patricia Grativol; Inomata, Daniela Lumi; Melo, Carlos Sergio Nascimento; Helal Junior, John; Nakashima, Yoshitaka

2007-01-01

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)

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

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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)

Macular degeneration (image)

Science.gov (United States)

... macula in the back of the eye. The macula is important for clear central vision, allowing an individual to see fine details. There are two types of macular degeneration, dry and wet. Dry macular degeneration is more ...

Intraocular pressure, corneal thickness, and corneal hysteresis in Steinert's myotonic dystrophy

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Carlos Alexandre de A. Garcia Filho

2011-06-01

Full Text Available PURPOSE: Low intraocular pressure (IOP measured by Goldmann applanation tonometry (GAT is one of the ocular manifestations of Steinert's myotonic dystrophy. The goal of this study was to evaluate the corneal-compensated IOP as well as corneal properties (central corneal thickness and corneal hysteresis in patients with myotonic dystrophy. METHODS: A total of 12 eyes of 6 patients with Steinert's myotonic dystrophy (dystrophy group and 12 eyes of 6 age-, race-, and gender-matched healthy volunteers (control group were included in the study. GAT, Dynamic Contour Tonometry (DCT-Pascal and Ocular Response Analyzer (ORA were used to assess the IOP. Central corneal thickness was obtained by ultrasound pachymetry, and corneal hysteresis was analyzed using the ORA device. In light of the multiplicity of tests performed, the significance level was set at 0.01 rather than 0.05. RESULTS: The mean (standard deviation [SD] GAT, DCT, and corneal-compensated ORA IOP in the dystrophy group were 5.4 (1.4 mmHg, 9.7 (1.5 mmHg, and 10.1 (2.6 mmHg, respectively. The mean (SD GAT, DCT, and corneal-compensated ORA IOP in the control group was 12.6 (2.9 mmHg, 15.5 (2.7 mmHg, and 15.8 (3.4 mmHg, respectively. There were significant differences in IOP values between dystrophy and control groups obtained by GAT (mean, -7.2 mmHg; 99% confidence interval [CI], -10.5 to -3.9 mmHg; P<0.001, DCT (mean, -5.9 mmHg; 99% CI, -8.9 to -2.8 mmHg; P<0.001, and corneal-compensated ORA measurements (mean, -5.7 mmHg; 99% CI, -10.4 to -1.0 mmHg; P=0.003. The mean (SD central corneal thickness was similar in the dystrophy (542 [31] µm and control (537 [11] µm groups (P=0.65. The mean (SD corneal hysteresis in the dystrophy and control groups were 11.2 (1.5 mmHg and 9.7 (1.2 mmHg, respectively (P=0.04. CONCLUSIONS: Patients with Steinert's myotonic dystrophy showed lower Goldmann and corneal-compensated IOP in comparison with healthy individuals. Since central corneal thickness and

RFLP for Duchenne muscular dystrophy cDNA clone 44-1

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Laing, N G; Siddique, T; Bartlett, R J; Yamaoka, L H; Chen, J C; Walker, A P; Hung, W Y; Roses, A D [Duke Univ. Medical Center, Durham, NC (USA)

1988-07-25

Clone 44-1 is one of six cDNA clones which comprise the cDNA for the Duchenne muscular dystrophy gene. It is a 0.9kb fragment in the EcoR1 site of Bluescript. Taq1 (TlCGA) identifies two alleles with bands at 6.8 and 5.7kb, as well as four constant bands at 4.8, 3.9, 3.5 and 2.5kb. Its frequency was studied in 62 unrelated individuals. Mendelian inheritance was demonstrated in one three generation and three two generation informative families, 26 individuals. There were no problems on RFLP analysis under normal stringency conditions.

Efficacy of Diacetate Esters of Macular Carotenoids: Effect of Supplementation on Macular Pigment

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Richard A. Bone

2018-01-01

Full Text Available The accumulation of the carotenoids lutein, zeaxanthin, and mesozeaxanthin in the center of the human retina, and known as the macula lutea or macular pigment, is believed to protect the retina from age-related macular degeneration. Since the macular pigment is of dietary origin, supplements containing the relevant carotenoids are readily available. In this study, we compared the changes in macular pigment over a 24-week supplementation period for two groups of 24 subjects each assigned to either of two supplement formulations, 20 mg/day of lutein or 20 mg equivalent free carotenoids of a combination of diacetate esters of the macular carotenoids. The latter group responded with a larger increase (0.0666 ± 0.0481 in macular pigment optical density than the former group (0.0398 ± 0.0430, driven largely by the older subjects. The difference was statistically significant (p=0.0287. There was a general trend towards smaller increases in macular pigment for those subjects whose baseline value was high. However, the trend was only significant (p<0.05 for subjects in the diacetate group. No differences in response could be attributed to the gender of the subjects. We also observed no indication that the use of statin drugs by a few of the older subjects influenced their responses.

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.

Dysphagia is present but mild in myotonic dystrophy type 2

NARCIS (Netherlands)

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

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

Prevalence and correlates of apathy in myotonic dystrophy type 1.

Science.gov (United States)

Gallais, Benjamin; Montreuil, Michèle; Gargiulo, Marcela; Eymard, Bruno; Gagnon, Cynthia; Laberge, Luc

2015-08-22

Apathy in DM1 has long been acknowledged in clinical practice. However, a major drawback is that the concept has been only sparsely explored in previous specific studies. This study aimed to determine the prevalence of apathy in myotonic dystrophy (DM1), to compare it with facioscapulohumeral dystrophy (FSHD) patients and normal healthy controls, and explore its relationship to psychopathological features and cognitive function. Levels of apathy in 38 DM1 patients with adult phenotypes were compared with 19 patients with FSHD and 20 matched controls. Patient participants were consecutively recruited, regarding their interdisciplinary annual evaluation at the neuromuscular pathology reference center (Institute of Myology, Paris, France), within an 18-month period. Additional measurements included motor disability, fatigue, depression, anxiety, and cognitive abilities. Inter-group comparisons were performed using non-parametric Kruskal-Wallis tests and Mann-Whitney U Tests. Intra-group comparisons were carried out with the Wilcoxon Signed rank and Friedman tests. Also, Spearman's correlations were used to assess the strength of linear relationships between pairs of variables. The significance level was set at 0.05. Global score of apathy was significantly higher in DM1 patients than in FSHD patients (p fatigue, depression, and anxiety. Apathy is a frequent symptom in DM1 (almost 40 %). It is more prevalent than in a similarly disabled group of patients with FSHD and in controls. Results also show that apathy in DM1 is independent of the psychopathological domain, fatigue, age, and motor disability, but associated to general cognitive status. These results altogether could suggest a central cause for apathy in DM1 rather than an adjustment process to cope with the progressive and debilitating nature of the disease. Data emphasize the importance to evaluate this symptom in routine clinical management of DM1 patients.

Effect of Conbercept injection and macular grid pattern photocoagulation in treating macular edema after non-ischemic branch retinal vein occlusion

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Jiang Zhu

2018-06-01

Full Text Available AIM: To investigate the effects and safety of intravitreal injection of Conbercept combined with macular grid pattern photocoagulation for macular edema secondary to non-ischemic branch retinal vein occlusion(BRVO. METHODS: A total of 38 patients(38 eyes with macular edema following non-ischemic BRVO were retrospectively analyzed. All patients were given best corrected visual acuity(BCVA, intraocular pressure, slit lamp with preset lens, optic coherent tomography(OCTand fluorescence fundus angiography(FFAexamination. The BCVA and central macular thickness(CMTwere observed before and 1wk, 1, 2, 3, 6, 9 and 12mo after treatment. The change in pre-treatment and post-treatment were compared, and the related complications were recorded. RESULTS:BCVA before treatment and 1wk, 1, 2, 3, 6, 9 and 12mo after treatment were 0.89±0.62, 0.64±0.59, 0.55±0.62, 0.46±0.43, 0.53±0.67, 0.43±0.38, 0.42±0.29, 0.40±0.30, the difference was statistically significant between that before and after treatment(PP>0.05. CMT were 683.25±236.47, 298.65±116.12, 276.89±107.28, 281.55±99.62, 251.41±119.47, 240.58±88.62, 231.74±75.36, 209.51±84.68μm, the difference was statistically significant between that before and after treatment(PP>0.05. There were 11 eyes received one injection, 18 eyes with two injections, 2 eyes with 3, 3 eyes with 4, and 4 eyes more than 4, the average injection was 2.01±1.42. The CMT decreased after every injection. The intraocular hypertension and other complications were not seen after treatment. CONCLUSION: Intravitreal injection of conbercept combined with macular grid pattern photocoagulation for macular edema to non-ischemic BRVO can reduce the macular edema and improve BCVA, which is effective and safety.

Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial

NARCIS (Netherlands)

van Engelen, Baziel; Abghari, Shaghayegh; Aschrafi, Armaz; Bouman, Sacha; Cornelissen, Yvonne; Glennon, Jeffrey; Groot, Perry; Heerschap, Arend; Heskamp, Linda; Heskes, Tom; Kapusta, Katarzyna; Klerks, Ellen; Knoop, Hans; Maas, Daphne; Okkersen, Kees; Poelmans, Geert; Rahmadi, Ridho; van Nimwegen, Marlies; Gorman, Grainne; Moreno, Cecilia Jimenez; Lochmüller, Hanns; Trenell, Mike; van Laar, Sandra; Wood, Libby; Schoser, Benedikt; Wenninger, Stephan; Schüller, Angela; Auguston, Mrs Rémie; Baptiste, Lignier; Barau, Caroline; Bassez, Guillaume; Chevalier, Pascale; Couppey, Florence; Delmas, Stéphanie; Deux, Jean-François; Dogan, Celine; Hamadouche, Amira; Hankiewicz, Karolina; Lhermet, Laure; Minier, Lisa; Rialland, Amandine; Schmitz, David; Monckton, Darren G.; Cumming, Sarah A.; Adam, Berit; Donnan, Peter; Hannah, Michael; Hogarth, Fiona; Littleford, Roberta; McKenzie, Emma

2015-01-01

Background: Myotonic dystrophy type 1 (DM1) is a rare, inherited chronic progressive disease as well as an autosomal dominant multi-systemic disorder. It is probably one of the most common adult forms of muscular dystrophy, with a prevalence of approximately 10 per 100,000 people affected. With 733

Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial

NARCIS (Netherlands)

Engelen, B.G.M. van; Groot, P.C.; Abghari, S.; Aschrafi, A.; Bouman, S.F.; Cornelissen, Y.; Glennon, J.C.; Heerschap, A.; Heskamp, L.; Heskes, T.M.; Kapusta, K.A.; Klerks, E.; Knoop, H.; Maas, D; Okkersen, C.P.; Poelmans, G.J.V.; Rahmadi, R.; Nimwegen, M. van; et al.,

2015-01-01

BACKGROUND: Myotonic dystrophy type 1 (DM1) is a rare, inherited chronic progressive disease as well as an autosomal dominant multi-systemic disorder. It is probably one of the most common adult forms of muscular dystrophy, with a prevalence of approximately 10 per 100,000 people affected. With 733

Advances in gene therapy for muscular dystrophies [version 1; referees: 2 approved

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Hayder Abdul-Razak

2016-08-01

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

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

NARCIS (Netherlands)

Saksens, N.T.; Krebs, M.P.; Schoenmaker, F.E.; Hicks, W.; Yu, M.; Shi, L.; Rowe, L.; Collin, G.B.; Charette, J.R.; Letteboer, S.J.; Neveling, K.; Moorsel, T.W. van; Abu-Ltaif, S.; Baere, E. De; Walraedt, S.; Banfi, S.; Simonelli, F.; Cremers, F.P.; Boon, C.J.; Roepman, R.; Leroy, B.P.; Peachey, N.S.; Hoyng, C.B.; Nishina, P.M.; Hollander, A.I. den

2016-01-01

Butterfly-shaped pigment dystrophy is an eye disease characterized by lesions in the macula that can resemble the wings of a butterfly. Here we report the identification of heterozygous missense mutations in the CTNNA1 gene (encoding alpha-catenin 1) in three families with butterfly-shaped pigment

Macular Amyloidosis and Epstein-Barr Virus

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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.

Inherited Retinal Degenerative Disease Registry

Science.gov (United States)

2017-09-13

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

The Distribution of Macular Thickness and Its Determinants in a Healthy Population.

Science.gov (United States)

Hashemi, Hassan; Khabazkhoob, Mehdi; Yekta, AbbasAli; Emamian, Mohammad Hassan; Nabovati, Payam; Fotouhi, Akbar

2017-10-01

To determine the distribution of macular thickness in a healthy Iranian population aged 45-69 years and its association with certain determinants. All participants underwent optometric examinations including measurement of uncorrected and corrected visual acuity, objective refraction by retinoscopy, and subjective refraction. Subsequently, all participants underwent slit-lamp biomicroscopy followed by fundus examination through direct and indirect ophthalmoscopy, and optical coherence tomography (OCT) imaging under pupil dilation. Mean central macular thickness was 255.4 µm (95% confidence interval, CI, 254.5-256.3 µm), average inner macular thickness was 316.5 µm (95% CI 315.9-317.1 µm), average outer macular thickness was 275.3 µm (95% CI 274.8-275.8 µm), and overall average thickness was 278.6 µm (95% CI 278.1-279.1 µm). A linear multiple regression model showed that all indexes were significantly larger in male participants (p < 0.001). Central macular thickness increased with age (coef = 0.25, p < 0.001) while overall, inner and outer macular thickness decreased with age (coef = -0.18, -0.15, -0.19, respectively, all p < 0.001). Central and inner macular thickness had a positive correlation (coef = 3.8, 2.6, respectively, both p < 0.001) and outer macular thickness had a negative correlation (coef = -1.6, p < 0.001) with axial length. Age, sex, refractive error, axial length, and keratometry were found to be associated with macular thickness. These factors should be taken into account when interpreting macular thickness measurements with spectral-domain OCT.

Nanolipodendrosome-loaded glatiramer acetate and myogenic differentiation 1 as augmentation therapeutic strategy approaches in muscular dystrophy.

Science.gov (United States)

Afzal, Ehsan; Zakeri, Saba; Keyhanvar, Peyman; Bagheri, Meisam; Mahjoubi, Parvin; Asadian, Mahtab; Omoomi, Nogol; Dehqanian, Mohammad; Ghalandarlaki, Negar; Darvishmohammadi, Tahmineh; Farjadian, Fatemeh; Golvajoee, Mohammad Sadegh; Afzal, Shadi; Ghaffari, Maryam; Cohan, Reza Ahangari; Gravand, Amin; Ardestani, Mehdi Shafiee

2013-01-01

[Corrected] Muscular dystrophies consist of a number of juvenile and adult forms of complex disorders which generally cause weakness or efficiency defects affecting skeletal muscles or, in some kinds, other types of tissues in all parts of the body are vastly affected. In previous studies, it was observed that along with muscular dystrophy, immune inflammation was caused by inflammatory cells invasion - like T lymphocyte markers (CD8+/CD4+). Inflammatory processes play a major part in muscular fibrosis in muscular dystrophy patients. Additionally, a significant decrease in amounts of two myogenic recovery factors (myogenic differentation 1 [MyoD] and myogenin) in animal models was observed. The drug glatiramer acetate causes anti-inflammatory cytokines to increase and T helper (Th) cells to induce, in an as yet unknown mechanism. MyoD recovery activity in muscular cells justifies using it alongside this drug. In this study, a nanolipodendrosome carrier as a drug delivery system was designed. The purpose of the system was to maximize the delivery and efficiency of the two drug factors, MyoD and myogenin, and introduce them as novel therapeutic agents in muscular dystrophy phenotypic mice. The generation of new muscular cells was analyzed in SW1 mice. Then, immune system changes and probable side effects after injecting the nanodrug formulations were investigated. The loaded lipodendrimer nanocarrier with the candidate drug, in comparison with the nandrolone control drug, caused a significant increase in muscular mass, a reduction in CD4+/CD8+ inflammation markers, and no significant toxicity was observed. The results support the hypothesis that the nanolipodendrimer containing the two candidate drugs will probably be an efficient means to ameliorate muscular degeneration, and warrants further investigation.

Learning about Duchenne Muscular Dystrophy

Science.gov (United States)

... protein. Often these boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) ... National Library of Medicine Web site Duchenne and Becker muscular dystrophy [ghr.nlm.nih.gov] From Genetics Home Reference ...

Spontaneous resolution of macular edema after silicone oil removal

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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.

A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy.

Science.gov (United States)

Yamada, Yuka; Kawakami, Michiyuki; Wada, Ayako; Otsuka, Tomoyoshi; Muraoka, Kaori; Liu, Meigen

2018-06-01

Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD. The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined using videofluorography during swallowing of 5 mL of fluid. The penetration-aspiration scale (P-A scale) and the videofluorographic dysphagia scale (VDS) were used to evaluate dysphagia. Swinyard functional ability stage was not significantly different between the BMD and DMD groups. Rate of aspiration, P-A scale score, and total VDS score did not differ across groups, but the VDS item score for laryngeal elevation was lower in the BMD group than in the DMD group (median scores 4.5 and 9, respectively; p Becker muscular dystrophy (BMD) was not well known. Eighteen patients with BMD and 18 patients with Duchenne muscular dystrophy were examined with videofluorography. Patients with BMD have swallowing problems similar to those observed in patients with DMD.

Median nail dystrophy involving the thumb nail

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Rahulkrishna Kota

2016-01-01

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

Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

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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

Prevalence of generalized retinal dystrophy in Denmark

DEFF Research Database (Denmark)

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

2014-01-01

of this study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in the Danish population. METHODS: A population-based cross-sectional study with data from the Danish Retinitis Pigmentosa Registry that comprises all patients in Denmark with generalized retinal......PURPOSE: Generalized retinal dystrophy is a frequent cause of visual impairment and blindness in younger individuals and a subject of new clinical intervention trials. Nonetheless, there are few nation-wide population-based epidemiological data of generalized retinal dystrophy. The purpose...... and chorioretinal dystrophies from the 19th century to the present. Among 3076 registered cases, the primary diagnosis of generalized retinal dystrophy was assessed by chart review, including fundus photographs and electroretinograms. Demographic data on the Danish population were retrieved from Statistics Denmark...

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

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Dominic Jauvin

2017-06-01

Full Text Available Myotonic dystrophy type 1 (DM1, a dominant hereditary muscular dystrophy, is caused by an abnormal expansion of a (CTGn trinucleotide repeat in the 3′ UTR of the human dystrophia myotonica protein kinase (DMPK gene. As a consequence, mutant transcripts containing expanded CUG repeats are retained in nuclear foci and alter the function of splicing regulatory factors members of the MBNL and CELF families, resulting in alternative splicing misregulation of specific transcripts in affected DM1 tissues. In the present study, we treated DMSXL mice systemically with a 2′-4′-constrained, ethyl-modified (ISIS 486178 antisense oligonucleotide (ASO targeted to the 3′ UTR of the DMPK gene, which led to a 70% reduction in CUGexp RNA abundance and foci in different skeletal muscles and a 30% reduction in the heart. Furthermore, treatment with ISIS 486178 ASO improved body weight, muscle strength, and muscle histology, whereas no overt toxicity was detected. This is evidence that the reduction of CUGexp RNA improves muscle strength in DM1, suggesting that muscle weakness in DM1 patients may be improved following elimination of toxic RNAs.

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.

Science.gov (United States)

Jauvin, Dominic; Chrétien, Jessina; Pandey, Sanjay K; Martineau, Laurie; Revillod, Lucille; Bassez, Guillaume; Lachon, Aline; MacLeod, A Robert; Gourdon, Geneviève; Wheeler, Thurman M; Thornton, Charles A; Bennett, C Frank; Puymirat, Jack

2017-06-16

Myotonic dystrophy type 1 (DM1), a dominant hereditary muscular dystrophy, is caused by an abnormal expansion of a (CTG) n trinucleotide repeat in the 3' UTR of the human dystrophia myotonica protein kinase (DMPK) gene. As a consequence, mutant transcripts containing expanded CUG repeats are retained in nuclear foci and alter the function of splicing regulatory factors members of the MBNL and CELF families, resulting in alternative splicing misregulation of specific transcripts in affected DM1 tissues. In the present study, we treated DMSXL mice systemically with a 2'-4'-constrained, ethyl-modified (ISIS 486178) antisense oligonucleotide (ASO) targeted to the 3' UTR of the DMPK gene, which led to a 70% reduction in CUG exp RNA abundance and foci in different skeletal muscles and a 30% reduction in the heart. Furthermore, treatment with ISIS 486178 ASO improved body weight, muscle strength, and muscle histology, whereas no overt toxicity was detected. This is evidence that the reduction of CUG exp RNA improves muscle strength in DM1, suggesting that muscle weakness in DM1 patients may be improved following elimination of toxic RNAs. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Incidence of diabetic macular edema and associated risk factors in a cohort of patients with type 1 diabetes in Denmark

DEFF Research Database (Denmark)

Rasmussen, Malin Lundberg

Incidence of diabetic macular edema and associated risk factors in a cohort of patients with type 1 diabetes in Denmark. Rasmussen M.L.1, Pedersen R.B. 1, Sjølie A.K. 1, Grauslund J1 1University of Southern Denmark, Department of ophthalmology, Odense University Hospital, Denmark Purpose: To eval......Incidence of diabetic macular edema and associated risk factors in a cohort of patients with type 1 diabetes in Denmark. Rasmussen M.L.1, Pedersen R.B. 1, Sjølie A.K. 1, Grauslund J1 1University of Southern Denmark, Department of ophthalmology, Odense University Hospital, Denmark Purpose......: To evaluate the 16-year incidence of diabetic macular edema (DME) in a cohort of type 1 diabetic patients and to investigate possible risk factors of developing DME. Methods: This was a prospective cohort study of Danish type 1 diabetic patients. A total of 131 patients were examined at baseline in 1995...

What Is Macular Edema?

Medline Plus

Full Text Available ... be able to see after vitrectomy surgery for a macular hole? Jan 24, 2016 Can Prolensa drops help a macular hole? Jan 11, 2016 After a person develops ocular histoplasmosis, ...

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

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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.

European multicenter trial of the prevention of cystoid macular edema after cataract surgery in nondiabetics: ESCRS PREMED study report 1.

Science.gov (United States)

Wielders, Laura H P; Schouten, Jan S A G; Winkens, Bjorn; van den Biggelaar, Frank J H M; Veldhuizen, Claudette A; Findl, Oliver; Murta, Joaquim C N; Goslings, Willem R O; Tassignon, Marie-José; Joosse, Maurits V; Henry, Ype P; Rulo, Alexander H F; Güell, José L; Amon, Michael; Kohnen, Thomas; Nuijts, Rudy M M A

2018-04-01

To compare the efficacy of a topical nonsteroidal antiinflammatory drug, topical corticosteroid, and a combination of both drugs to prevent the occurrence of cystoid macular edema (CME) after cataract surgery in nondiabetic patients. Twelve European study centers. Randomized clinical trial. Nondiabetic patients having uneventful cataract surgery were included in this study. Patients were randomized to receive topical bromfenac 0.09% twice daily for 2 weeks or dexamethasone 0.1% 4 times daily with 1 drop less per day every following week, or a combination of both. The primary outcome was the difference in central subfield mean macular thickness 6 weeks postoperatively. Secondary outcome measures included corrected distance visual acuity as well as the incidence of CME and clinically significant macular edema (CSME) within 6 weeks and 12 weeks postoperatively. This study comprised 914 patients. Six weeks postoperatively, the central subfield mean macular thickness was 288.3 μm, 296.0 μm, and 284.5 μm in the bromfenac group, dexamethasone group, and combination treatment group, respectively (overall P = .006). The incidence of clinically significant macular edema within 12 weeks postoperatively was 3.6%, 5.1%, and 1.5%, respectively (overall P = .043). Patients treated with a combination of topical bromfenac 0.09% and dexamethasone 0.1% had a lower risk for developing CSME after cataract surgery than patients treated with a single drug. Copyright © 2018 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Serous Macular Detachments

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Hakan Özdemir

2012-03-01

Full Text Available Serous macular detachment has only recently been recognized to occur in a significant number of eyes with macular pathology including diabetic retinopathy, retinal vein occlusion, Behçet disease, Irvine-Gass syndrome and pars planitis. These serous retinal detachments associated with retinal vascular leakage are not suspected clinically or angiographically but can be diagnosed with optical coherence tomography (OCT beneath the edematous neurosensory retina. The detection of shallow foveal detachment may be helpful in better understanding the pathogenesis of these disorders. In addition, the detection of serous macular detachment may also help to better guide and assess the results of therapy in the future. (Turk J Oph thal mol 2012; 42: 146-9

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....... Smoking is probably also a risk factor. Preventive strategies using macular laser photocoagulation are under investigation, but their efficacy in preventing visual loss is as yet unproven. There is no treatment with proven efficacy for geographic atrophy. Optimal treatment for exudative AMD requires...

3-Methylhistidine excretion in myotonic dystrophy

Energy Technology Data Exchange (ETDEWEB)

Griggs, R.C.; Moxley, R.T. III; Forbes, G.B.

1980-12-01

3-Methylhistidine (3-MH) excretion reflects the rate of muscle protein catabolism, since 3-MH occurs almost exclusively in muscle actin and myosin and is not reutilized or catabolized. We studied 3-MH excretion in 9 patients with myotonic dystrophy, 8 normals, and 10 disease controls with Duchenne dystrophy and other disorders. 3-MH excretion was expressed relative to muscle mass as determined by both urinary creatinine and total body potassium (/sup 40/K method). Absolute 3-MH excretion was decreased in myotonic dystrophy patients but was normal when related to muscle mass. The finding of normal 3-MH excretion in myotonic dystrophy suggests that the muscle wasting in this disorder results from impaired anabolic processes rather than accelerated muscle destruction.

3-Methylhistidine excretion in myotonic dystrophy

International Nuclear Information System (INIS)

Griggs, R.C.; Moxley, R.T. III; Forbes, G.B.

1980-01-01

3-Methylhistidine (3-MH) excretion reflects the rate of muscle protein catabolism, since 3-MH occurs almost exclusively in muscle actin and myosin and is not reutilized or catabolized. We studied 3-MH excretion in 9 patients with myotonic dystrophy, 8 normals, and 10 disease controls with Duchenne dystrophy and other disorders. 3-MH excretion was expressed relative to muscle mass as determined by both urinary creatinine and total body potassium ( 40 K method). Absolute 3-MH excretion was decreased in myotonic dystrophy patients but was normal when related to muscle mass. The finding of normal 3-MH excretion in myotonic dystrophy suggests that the muscle wasting in this disorder results from impaired anabolic processes rather than accelerated muscle destruction

Development of Non-Hormonal Steroids for the Treatment of Duchenne Muscular Dystrophy

Science.gov (United States)

2013-02-01

constructs envisioned in gene therapy, are also expressed in Becker muscular dystrophy (alleles of dystrophinopathy leading to milder disease). In other words...the Treatment of Duchenne Muscular Dystrophy PRINCIPAL INVESTIGATOR: Terence Partridge, PhD CONTRACTING ORGANIZATION: Children’s...Duchenne Muscular Dystrophy 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-11-1-0754 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Terence Partridge

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 ...

Bortezomib partially improves laminin α2 chain-deficient muscular dystrophy.

Science.gov (United States)

Körner, Zandra; Fontes-Oliveira, Cibely C; Holmberg, Johan; Carmignac, Virginie; Durbeej, Madeleine

2014-05-01

Congenital muscular dystrophy, caused by mutations in LAMA2 (the gene encoding laminin α2 chain), is a severe and incapacitating disease for which no therapy is yet available. We have recently demonstrated that proteasome activity is increased in laminin α2 chain-deficient muscle and that treatment with the nonpharmaceutical proteasome inhibitor MG-132 reduces muscle pathology in laminin α2 chain-deficient dy(3K)/dy(3K) mice. Here, we explore the use of the selective and therapeutic proteasome inhibitor bortezomib (currently used for treatment of relapsed multiple myeloma and mantle cell lymphoma) in dy(3K)/dy(3K) mice and in congenital muscular dystrophy type 1A muscle cells. Outcome measures included quantitative muscle morphology, gene and miRNA expression analyses, proteasome activity, motor activity, and survival. Bortezomib improved several histological hallmarks of disease, partially normalized miRNA expression (miR-1 and miR-133a), and enhanced body weight, locomotion, and survival of dy(3K)/dy(3K) mice. In addition, bortezomib reduced proteasome activity in congenital muscular dystrophy type 1A myoblasts and myotubes. These findings provide evidence that the proteasome inhibitor bortezomib partially reduces laminin α2 chain-deficient muscular dystrophy. Investigation of the clinical efficacy of bortezomib administration in congenital muscular dystrophy type 1A clinical trials may be warranted. Copyright © 2014 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice

NARCIS (Netherlands)

Pellissier, L.P.; Lundvig, D.M.S.; Tanimoto, N.; Klooster, J.; Vos, R.M.; Richard, F.; Sothilingam, V.; Garrido, M. Garcia; Bivic, A. le; Seeliger, M.W.; Wijnholds, J.

2014-01-01

Mutations in the CRB1 gene lead to retinal dystrophies ranging from Leber congenital amaurosis (LCA) to early-onset retinitis pigmentosa (RP), due to developmental defects or loss of adhesion between photoreceptors and Muller glia cells, respectively. Whereas over 150 mutations have been found, no

[Encopresis revealing myotonic dystrophy in 2 children].

Science.gov (United States)

Avez-Couturier, J; Michaud, L; Cuisset, J-M; Lamblin, M-D; Dolhem, P; Turck, D; Vallée, L; Gottrand, F

2009-05-01

Gastrointestinal symptoms are very frequent in myotonic dystrophy but largely unrecognized. They can be the revealing factors of the disease. We report 2 cases of 10 and 17-year-old children with persistent encopresis starting at the age of 3 and 5 years in spite of laxative treatment. Neurological examination and anorectal manometry provided the diagnosis of myotonic dystrophy. Procainamide treatment was introduced and the digestive symptoms improved. Any child with encopresis should have complete evaluation to rule out the diagnosis of myotonic dystrophy and physicians should look for upper and/or lower gastrointestinal symptoms in every patient with myotonic dystrophy.

LASER PHOTOCOAGULATION IN DIABETIC MACULAR EDEMA: EFFECTS ON VISUAL ACUITY AND MACULAR EDEMA

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M.H. Dehghan

1999-06-01

Full Text Available Due to the importance of clinically significant macular edema in diabetic patients, this study is aimed to determine if laser photocoagulation is effective in the treatment of clinically significant diabetic macular edema. In addition, the effects of risk factors arc surveyed* This is an existing data study considering patients with clinically significant diabetic macular edema, treated with argon-green laser photocoagulation in Labbafinejad hospital, department of lasertherapy, from 1995 to 1997. in 60 (42.6% eyes the treatment method was focal, in 22 (15.6% eyes grid, and in 59 (41.84 modified grid laser photocoagulation was performed. The results are based upon deterioration of visual acuity, occurance of moderate visual loss and improvement or persistence of CSME. We studied 114 eyes from 87 patients. Two years after initial treatment, visual acuity improved in 19.1% of eyes, unchanged in 9.5% and worsened in 71.4% of eyes. After this period the rate of moderate visual loss was 28.6% and CSME was improved in 23.8% of eyes. According to our study, baseline visual acuity and retinopathy severity were two important intervening factors in response to lasertherapy. Comparing our results with natural course of diabetic macular edema, indicates that in assessing visual outcome laser photocoagulation is an effective modality in treatment of CSME, but it is not effective in maintaining or improving visual acuity, which is due to patients delay in visiting ophthalmologists and paying not enough attention to follow-up visits.

Application of OCT in traumatic macular hole

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Wen-Li Fu

2017-12-01

Full Text Available AIM: To observe the application of optical coherence tomography(OCTin the diseases of traumatic macular hole. METHODS: Twenty-five eyes of 23 patients with traumatic macular hole from January 2015 to January 2017 were enrolled in this study, including 9 eyes treated without surgeries, 16 eyes with surgeries. The image features were analyzed using OCT from ZEISS. RESULTS: The OCT characteristics in patients with traumatic macular hole were partial or full-thickness disappearance of the neuro-epithelium. Posterior vitreous detachment was not seen in the traumatic macular hole. OCT examination revealed that 4 eyes had partial detachment of macular hole and 21 eyes had full thickness detachment. Of the twenty-one eyes, 4 eyes had simple macular hole, 10 eyes had macular full-layer division with peripheral nerve epithelium edema, 7 eyes had the macular full-layer hole with the neuro-epithelium localized detachment. In the 25 eyes, 9 eyes did not undergo the surgery, of which 7 eyes were self-healing; 16 eyes were surgically treated. Postoperative OCT showed the macular structure were normal in 12 eyes with the visual acuity improved 3 lines; retinal nerve epithelium were thinning in 4 eyes, visual acuities were not significant improved after surgery. CONCLUSION: OCT examination is necessary for the diagnosis and treatment of traumatic macular hole.

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...... 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...... 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...

What Is Macular Edema?

Medline Plus

Full Text Available ... an Ophthalmologist Answers Would a macular wrinkle cause black streaks in my vision? Oct 05, 2017 When will I be able to see after vitrectomy surgery for a macular hole? Jan 24, 2016 Can Prolensa drops help a ...

Genetics Home Reference: cone-rod dystrophy

Science.gov (United States)

... common cause of autosomal recessive cone-rod dystrophy , accounting for 30 to 60 percent of cases. At ... dystrophy play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the ...

CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice

NARCIS (Netherlands)

Pellissier, Lucie P; Lundvig, Ditte M S; Tanimoto, Naoyuki; Klooster, J.; Vos, Rogier M; Richard, Fabrice; Sothilingam, Vithiyanjali; Garcia Garrido, Marina; Le Bivic, André; Seeliger, Mathias W; Wijnholds, J.

2014-01-01

Mutations in the CRB1 gene lead to retinal dystrophies ranging from Leber congenital amaurosis (LCA) to early-onset retinitis pigmentosa (RP), due to developmental defects or loss of adhesion between photoreceptors and Müller glia cells, respectively. Whereas over 150 mutations have been found, no

A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle

NARCIS (Netherlands)

Gudde, A.E.; Gonzalez-Barriga, A.; Broek, W.J. van den; Wieringa, B.; Wansink, D.G.

2016-01-01

Muscular manifestation of myotonic dystrophy type 1 (DM1), a common inheritable degenerative multisystem disorder, is mainly caused by expression of RNA from a (CTG.CAG)n-expanded DM1 locus. Here, we report on comparative profiling of expression of normal and expanded endogenous or transgenic

Correlation of visual recovery with macular height in macula-off retinal detachments.

Science.gov (United States)

Mowatt, L; Tarin, S; Nair, R G; Menon, J; Price, N J

2010-02-01

To determine the relationship between the preoperative macular height of a macular detachment and visual outcome of the post retinal reattachment. Prospective case series of 26 patients who presented to the Wolverhampton Eye Infirmary with a primary rhegmatogenous macula-off retinal detachment. Macular detachment height was assessed by B-scan ultrasound (10 Mhz) in the seated and supine postures before surgery. Age, gender, duration of the detachment, type of surgery, preoperative (pre-op) and postoperative (post-op) visual acuities at 3 and 6 months and status of the fellow eye were noted. A total of 26 eyes of 26 patients (mean age: 61.4 years+/-15.56 SD) were recruited. The mean logMAR pre- and post-op visual acuities at 3 and 6 months were 1.5+/-1.1 SD (range: 0.2-3), 0.38+/-0.23 SD (range: 0-0.84), and at 6 months 0.29+/-0.22 SD (range: 0-1.0). The median period of the macular detachment was 4.5 days (95% CI: 2-8 days). There was no significant difference between the mean macular heights while seated 2.42 mm+/-1.2 or supine 2.39 mm+/-1.0 (t-test, P=0.9). Correlation showed that the pre-op macular height is a statistical predictor of post-op visual acuity in our group of patients with macula-off retinal detachments. The shallower the macular detachment the greater the likelihood of a good visual outcome.

Vertical transmission of macular telangiectasia type 2.

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Delaere, Lien; Spielberg, Leigh; Leys, Anita M

2012-01-01

The purpose of this study was to report vertical transmission of macular telangiectasia type 2 and type 2 diabetes mellitus in 3 families. In this retrospective interventional case series, the charts of patients with inherited macular telangiectasia type 2 were reviewed. A large spectrum of presentations of macular telangiectasia type 2 was observed and has been studied with different techniques including best-corrected visual acuity, microperimetry, confocal blue reflectance fundus autofluorescence, fluorescein angiography, and time domain and spectral domain optical coherence tomography. Vertical transmission of macular telangiectasia type 2 and associated type 2 diabetes mellitus is described in 3 families. Symptomatic as well as asymptomatic eyes with macular telangiectasia type 2 were identified. In 2 families, a mother and son experienced visual loss and were diagnosed with macular telangiectasia type 2. All 4 patients had type 2 diabetes. Diabetic retinopathy was observed in one mother and her son. In the third family, the index patient was diagnosed macular telangiectasia type 2 after complaints of metamorphopsia. She and her family members had type 2 diabetes mellitus, and further screening of her family revealed familial macular telangiectasia type 2. None of the patients were treated for macular telangiectasia type 2. Macular telangiectasia type 2 may be more common than previously assumed, as vision can remain preserved and patients may go undiagnosed. Screening of family members is indicated, and detection of mild anomalies is possible using fundus autofluorescence and spectral domain optical coherence tomography.

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

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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.

Stem cell transplantation for treating Duchenne muscular dystrophy

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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

Muscular dystrophy

Science.gov (United States)

... are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms. Physical therapy may help maintain muscle strength and function. Leg braces and a wheelchair ...

Perceived functioning and disability in adults with myotonic dystrophy type 1: a survey according to the International Classification Of Functioning, Disability and Health.

Science.gov (United States)

Kierkegaard, Marie; Harms-Ringdahl, Karin; Widén Holmqvist, Lotta; Tollbäck, Anna

2009-06-01

The purpose of this study was to describe and analyse self-rated perceived functioning, disability and environmental facilitators/barriers with regard to disease severity, using the International Classification of Functioning, Disability and Health (ICF) checklist, in adults with myotonic dystrophy type 1. Cross-sectional design. Forty-one women and 29 men with myotonic dystrophy type 1. A modified ICF checklist was used for self-rating of perceived problems in 29 body-function categories, difficulties in 52 activity and participation categories, and facilitators/barriers in 23 environmental-factor categories according to the verbal anchors of the ICF qualifiers. Disease severity classification was based on the muscular impairment rating scale. Of the persons with myotonic dystrophy type 1, 80% perceived problems of excessive daytime sleepiness, 76% of muscle power, and 66% of energy and drive functions, while over 59% perceived difficulties in physically demanding mobility activities. Disabilities in mobility, self-care and domestic life were more frequently reported by persons with severe disease. Support from the immediate family, medicines and social security services were perceived as facilitators for 50-60% of the participants. Disabilities and important environmental facilitators in adults with myotonic dystrophy type 1 were identified, and this clinically-relevant information can be used for developing health services for people with this condition.

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....

Spontaneous closure of the idiopathic macular hole. Follow-up of this case by optical coherence tomography and microperimetry MP1

International Nuclear Information System (INIS)

Molina Martin, Julio Cesar; Rodriguez Rodriguez, Violeta; Mendoza Santiesteban, Carlos

2010-01-01

The case of spontaneous closure of a stage 4 idiopathic macular hole at followed up by Optical Coherence Tomography and microperimetry MP1 before and after the closure was presented. The spontaneous closure of a stage 4 macular hole is rare but it can occur in patients with hole upper diameters less than 150 μm. The OCT and the microperimetry MP1 are very useful tools in the diagnosis, prognosis and follow-up of this maculopathy

Evaluation of Macular Thickness by Optical Coherence Tomography After Phacoemulsification Surgery

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Mehmet Tetikoğlu

2014-03-01

Full Text Available Objectives: To evaluate the incidence of cystoid macular edema (CME, its risk factors, and macular changes by optical coherence tomography (OCT after phacoemulsification. Materials and Methods: This study included 99 eyes of 65 patients who underwent phacoemulsification surgery in Okmeydanı Training and Research Hospital, Department of Ophthalmology. Foveal thickness, macular volume, and mean macular thickness were measured by OCT preoperatively and at 1st day, 1st week, 1st, and 3rd months postoperatively. Results: In this study, the incidence of postoperative CME was 3%. The mean central foveal thickness was preoperatively 250.4 (±18.5 μm, and postoperatively was 252.08 (±23.2 μm at 1st day, 261.4 (±27.8 μm at 1st week, 270.6 (±44.4 μm at 1st month, and 265.4 (±41.6 μm at 3rd month. The statistically significant increase in foveal thickness was defined between preoperative and 1st week, 1st month, 3rd month as well as between 1st week, 1st month, and 3rd month (p<0.01. Increase in macular thickness was demonstrated in 44 eyes (44.4% which was most frequently located in the parafoveal region. Intraoperative complications like iris trauma, posterior capsule tear, and vitreous loss were increased risk of CME (p=0.001. Conclusion: Subclinical macular thickness increment begins at 1st week and reaches maximum point at 1st month. Incidence of CME increased in patients who had a complicated cataract surgery, so they should be followed closely by OCT. (Turk J Ophthalmol 2014; 44: 88-91

Intramuscular renin-angiotensin system is activated in human muscular dystrophy.

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Sun, Guilian; Haginoya, Kazuhiro; Dai, Hongmei; Chiba, Yoko; Uematsu, Mitsugu; Hino-Fukuyo, Naomi; Onuma, Akira; Iinuma, Kazuie; Tsuchiya, Shigeru

2009-05-15

To investigate the role of the muscular renin-angiotensin system (RAS) in human muscular dystrophy, we used immunohistochemistry and Western blotting to examine the cellular localization of angiotensin-converting enzyme (ACE), the angiotensin II type 1 receptor (AT1) and the angiotensin II type 2 receptor (AT2) in muscle biopsies from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and congenital muscular dystrophy (CMD). In normal muscle, ACE was expressed in vascular endothelial cells and neuromuscular junctions (NMJs), whereas AT1 was immunolocalized to the smooth muscle cells of blood vessels and intramuscular nerve twigs. AT2 was immunolocalized in the smooth muscle cells of blood vessels. These findings suggest that the RAS has a functional role in peripheral nerves and NMJs. ACE and AT1, but AT2 immunoreactivity were increased markedly in dystrophic muscle as compared to controls. ACE and the AT1 were strongly expressed in the cytoplasm and nuclei of regenerating muscle fibers, fibroblasts, and in macrophages infiltrating necrotic fibers. Double immunolabeling revealed that activated fibroblasts in the endomysium and perimysium of DMD and CMD muscle were positive for ACE and AT1. Triple immunolabeling demonstrated that transforming growth factor-beta1 (TGF-beta1) and ACE were colocalized on the cytoplasm of activated fibroblasts in dystrophic muscle. Furthermore, Western blotting showed increases in the expression of AT1 and TGF-beta1 protein in dystrophic muscle, which coincided with our immunohistochemical results. The overexpression of ACE and AT1 in dystrophic muscle would likely result in the increased production of Ang II, which may act on these cells in an autocrine manner via AT1. The activation of AT1 may induce fibrous tissue formation through overexpression of TGF-beta1, which potently activates fibrogenesis and suppresses regeneration. In conclusion, our results imply that the intramuscular RAS-TGF-beta1 pathway

Concurrence of myotonic dystrophy and epilepsy: a case report

OpenAIRE

Worku, Dawit Kibru

2014-01-01

Introduction Myotonic dystrophy is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population. Case presentation A 25-year-old Ethiopian man presented with symptoms of myotonia, muscle wasting, gait problems, frontal baldness, and family history characterizing the hereditary disorder myotonic dystrophy. He had been on treatment for idiopathic generalized epilepsy for over 15 years. A needle electromyography showed insertional class...

Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation Site

Science.gov (United States)

D’Angelo, Maria Grazia; Lorusso, Maria Luisa; Civati, Federica; Comi, Giacomo Pietro; Magri, Francesca; Del Bo, Roberto; Guglieri, Michela; Molteni, Massimo; Turconi, Anna Carla; Bresolin, Nereo

2011-01-01

The presence of nonprogressive cognitive impairment is recognized as a common feature in a substantial proportion of patients with Duchenne muscular dystrophy. To investigate the possible role of mutations along the dystrophin gene affecting different brain dystrophin isoforms and specific cognitive profiles, 42 school-age children affected with Duchenne muscular dystrophy, subdivided according to sites of mutations along the dystrophin gene, underwent a battery of tests tapping a wide range of intellectual, linguistic, and neuropsychologic functions. Full-scale intelligence quotient was approximately 1 S.D. below the population average in the whole group of dystrophic children. Patients with Duchenne muscular dystrophy and mutations located in the distal portion of the dystrophin gene (involving the 140-kDa brain protein isoform, called Dp140) were generally more severely affected and expressed different patterns of strengths and impairments, compared with patients with Duchenne muscular dystrophy and mutations located in the proximal portion of the dystrophin gene (not involving Dp140). Patients with Duchenne muscular dystrophy and distal mutations demonstrated specific impairments in visuospatial functions and visual memory (which seemed intact in proximally mutated patients) and greater impairment in syntactic processing. PMID:22000308

Risk factors of age-related macular degeneration in Argentina

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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.

Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1?

OpenAIRE

Costantini, Antonio; Trevi, Erika; Pala, Maria Immacolata; Fancellu, Roberto

2016-01-01

Myotonic dystrophy type 1, also known as Steinert′s disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and periphe...

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.

Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

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Oriana del Rocío Cruz Guzmán

2012-01-01

Full Text Available Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways. Therefore, its damage may lead to different metabolic disruptions. Two of the most important metabolic alterations in muscular dystrophies may be insulin resistance and obesity. However, only insulin resistance has been demonstrated in myotonic dystrophy. In addition, endocrine disturbances such as hypogonadism, low levels of testosterone, and growth hormone have been reported. This eventually will result in consequences such as growth failure and delayed puberty in the case of childhood dystrophies. Other consequences may be reduced male fertility, reduced spermatogenesis, and oligospermia, both in childhood as well as in adult muscular dystrophies. These facts all suggest that there is a need for better comprehension of metabolic and endocrine implications for muscular dystrophies with the purpose of developing improved clinical treatments and/or improvements in the quality of life of patients with dystrophy. Therefore, the aim of this paper is to describe the current knowledge about of metabolic and endocrine alterations in diverse types of dystrophinopathies, which will be divided into two groups: childhood and adult dystrophies which have different age of onset.

PATTERNS OF FUNDUS AUTOFLUORESCENCE DEFECTS IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION SUBTYPES.

Science.gov (United States)

Ozkok, Ahmet; Sigford, Douglas K; Tezel, Tongalp H

2016-11-01

To test define characteristic fundus autofluorescence patterns of different exudative age-related macular degeneration subtypes. Cross-sectional study. Fifty-two patients with choroidal neovascularization because of three different neovascular age-related macular degeneration subtypes were included in the study. Macular and peripheral fundus autofluorescence patterns of study subjects were compared in a masked fashion. Fundus autofluorescence patterns of all three neovascular age-related macular degeneration subtypes revealed similar patterns. However, peripapillary hypo-autofluorescence was more common among patients with polypoidal choroidal vasculopathy (88.2%) compared with patients with retinal angiomatous proliferation (12.5%) and patients without retinal angiomatous proliferation and polypoidal choroidal vasculopathy (21.1%) (P autofluorescence defects in neovascular age-related macular degeneration maybe suggestive of polypoidal choroidal vasculopathy as a variant of neovascular age-related macular degeneration.

Muscular Dystrophy

Science.gov (United States)

... Surveillance Tracking and Research Network , known as MD STAR net . Learn more about CDC’s other muscular dystrophy ... for Disease Control and Prevention Email Recommend Tweet YouTube Instagram Listen Watch RSS ABOUT About CDC Jobs ...

Intravitreal pegaptanib for refractory macular edema secondary to retinal vein occlusion

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Udaondo P

2011-07-01

Full Text Available Patricia Udaondo1,2, Salvador Garcia-Delpech1,3, David Salom1,3, Maria Garcia-Pous1,3, Manuel Diaz-Llopis1,31Nuevo Hospital Universitario y Politecnico La Fe, Valencia, Spain; 2University Cardenal Herrera CEU, Valencia, Spain; 3Faculty of Medicine, University of Valencia, Valencia, SpainPurpose: To assess the efficacy of intravitreal Pegaptanib sodium (Macugen® injection in the management of refractory macular edema secondary to branch retinal vein occlusion.Methods: This is a prospective, nonrandomized, interventional case series. Five eyes of five patients with macular edema refractory to either bevacizumab or triamcinolone were treated with intravitreal injection of Pegaptanib sodium.Results: After three months follow-up, both visual acuity and macular edema, measured by optical coherence tomography and fluorescence angiography, dramatically improved.Conclusion: Pegaptanib sodium is a safe and efficacy treatment for macular edema secondary to branch retinal vein occlusion.Keywords: Macugen®, BRVO, BCVA, pegaptanib sodium

Postoperative eccentric macular holes after vitrectomy and internal limiting membrane peeling.

Science.gov (United States)

Brouzas, Dimitrios; Dettoraki, Maria; Lavaris, Anastasios; Kourvetaris, Dimitrios; Nomikarios, Nikolaos; Moschos, Marilita M

2017-06-01

The purpose of this study was to describe the incidence, clinical characteristics, and outcome of eccentric macular holes presenting after vitrectomy and internal limiting membrane (ILM) peeling for the treatment of macular pathology and discuss the pathogenesis of holes formation. A retrospective, noncomparative, interventional case-series study of five patients who developed eccentric macular holes postoperatively following vitrectomy in 198 consecutive patients who underwent ILM peeling for idiopathic macular hole and epiretinal membrane formation between 2008 and 2015. Five patients (2.5 %) developed full-thickness eccentric macular holes postoperatively. Three patients presented with a single eccentric macular hole, one patient had an eccentric hole after a failed idiopathic macular hole surgery and one patient developed four eccentric macular holes. The mean diameter of the holes was 584 μm (range 206-1317 μm) and the average time of holes formation after vitrectomy was 27.7 weeks (range 1-140 weeks). Postoperative best-corrected visual acuity ranged from "counting fingers" to 20/25. The eyes with the holes distant from the fovea had the best final visual acuity. No further intervention was attempted and no complications occurred. The mean follow-up time was 26.8 months. The postoperative macular holes after vitrectomy and ILM peeling were variable in number, size, and time of appearance but remained stable and were not associated with any complications. The pathogenesis of macular holes is most consistent with contraction of the residual ILM or secondary epimacular proliferation probably stimulated by ILM peeling.

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome.

Science.gov (United States)

Testa, Francesco; Melillo, Paolo; Rossi, Settimio; Marcelli, Vincenzo; de Benedictis, Antonella; Colucci, Raffaella; Gallo, Beatrice; Brunetti-Pierri, Raffaella; Donati, Simone; Azzolini, Claudio; Marciano, Elio; Simonelli, Francesca

2018-01-01

To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH). Macular abnormalities were observed in 126/268 (47.0%) examined eyes. The most frequent abnormality was ERM observed in 51 eyes (19%), followed by CME observed in 42 eyes (15.7%). Moreover, CME was significantly (p < 0.05) associated with younger age (CME: 30.1 ± 11.1 years; without CME: 36.9 ± 14.9 years), whereas VMT and full thickness MH were associated with older age (p < 0.05). Moreover, a significantly (p < 0.05) decreased best-corrected visual acuity was associated with MH compared to eyes without MH. Finally, CME was more frequent in USH1 compared to USH2. Our study, for the first time in the literature, showed the distribution of all macular abnormalities assessed by SD-OCT in a large USH cohort, comparing USH1 and USH2 patients. We observed that ocular abnormalities are highly prevalent in USH patients compared to general population, with ERM and CME being the most common alterations. Based on these findings, OCT screening in USH patients is recommended for early detection of macular changes and early treatment.

Radiographic features of Golden Retriever muscular dystrophy.

Science.gov (United States)

Brumitt, Jason W; Essman, Stephanie C; Kornegay, Joe N; Graham, John P; Weber, William J; Berry, Clifford R

2006-01-01

Golden Retriever muscular dystrophy is an inherited, degenerative myopathy due to the absence of dystrophin and is used as a model of Duchenne muscular dystrophy of young boys. This report describes the radiographic abnormalities of Golden Retriever muscular dystrophy in 26 dogs. The thoracic abnormalities included diaphragmatic asymmetry (18/26), diaphragmatic undulation (18/26), and gastro-esophageal hiatal hernia (6/26). Pelvic abnormalities included narrowing of the body of the ilia (14/19), ventral deviation and curvature of the tuber ischii (14/19), elongation of the obturator foramen with a decrease in opacity of the surrounding bone (12/19), and lateral flaring of the wings of the ilia (12/19). Abdominal abnormalities consisted of hepatomegaly (14/22) and poor serosal detail (12/22). The unique thoracic abnormalities were a consistent finding in affected Golden Retriever muscular dystrophy dogs. The diagnosis of muscular dystrophy should be included in the differential list if the combination of diaphragm undulation and asymmetry, and gastro-esophageal hiatal hernia are identified. These diaphragmatic abnormalities are related to hypertrophy and hyperplasia of the diaphragm. Additionally, the skeletal changes of pelvic tilt, elongation of the pelvis, widening of the obturator foramina and thinning of the ischiatic tables appear to be specific to Golden Retriever muscular dystrophy in dogs. These pelvic abnormalities are most likely secondary to bone remodeling associated with the progressive skeletal myopathy and subsequent contracture/fibrosis.

Translational Research for Muscular Dystrophy

Science.gov (United States)

2012-05-01

muscle dystrophy with abnormal waddling gait at 4 weeks of age. At 10 weeks of age, double mutants exhibit skeletal muscle degeneration, necrosis... dystrophy (MCMD). Homozygous dyW mice are passive, small, and emaciated, and demonstrate partial hindleg weakness and clasping. Their muscles contain...was statistically significant for both single- treatment groups. Figure 4. Effect of GW and AICAR on body mass, muscle mass, and behavioral

Comparison of Visual Function in Older Eyes in the Earliest Stages of Age-related Macular Degeneration to Those in Normal Macular Health.

Science.gov (United States)

Owsley, Cynthia; Huisingh, Carrie; Clark, Mark E; Jackson, Gregory R; McGwin, Gerald

2016-01-01

To compare the ability of several visual functional tests in terms of the strength of their associations with the earliest phases of age-related macular degeneration (AMD), which bears on their potential to serve as functional endpoints in evaluating treatments for early AMD and prevention strategies. Eyes from adults ≥60 years old were identified as being in normal macular health or in the earliest stages of AMD (steps 2, 3 or 4) through grading of color stereo-fundus photos by an experienced grader masked to all other study variables who used the 9-step Age-Related Eye Disease Study (AREDS) classification system for AMD severity. Visual function was assessed using the following tests: best-corrected visual acuity, low luminance visual acuity, spatial contrast sensitivity, macular cone-mediated light sensitivity and rod-mediated dark adaptation. A total of 1260 eyes were tested from 640 participants; 1007 eyes were in normal macular health (defined as step 1 in AREDS system) and 253 eyes had early AMD (defined as steps 2, 3 or 4). Adjusting for age and gender, early AMD eyes had two times the odds of having delayed rod-mediated dark adaptation than eyes in normal macular health (p = 0.0019). Visual acuity, low luminance acuity, spatial contrast sensitivity and macular light sensitivity did not differ between normal eyes and early AMD eyes. Eyes in the earliest phases of AMD were two times more likely to have delayed rod-mediated dark adaptation, as assessed by the rod-intercept, as compared to older eyes in normal macular health, whereas there was no difference in early AMD versus normal eyes in tests of visual acuity, low luminance acuity, macular light sensitivity and spatial contrast sensitivity.

Muscle pathology in myotonic dystrophy: light and electron microscopic investigation in eighteen patients.

Science.gov (United States)

Nadaj-Pakleza, A; Lusakowska, A; Sułek-Piątkowska, A; Krysa, W; Rajkiewicz, M; Kwieciński, H; Kamińska, A

2011-05-01

Myotonic dystrophy (DM) is the most common muscular dystrophy in adults. Two known genetic subtypes include DM1 (myotonic dystrophy type 1) and DM2 (myotonic dystrophy type 2). Genetic testing is considered as the only reliable diagnostic criterion in myotonic dystrophies. Relatively little is known about DM1 and DM2 myopathology. Thus, the aim of our study was to characterise light and electron microscopic features of DM1 and DM2 in patients with genetically proven types of the disease. We studied 3 DM1 cases and 15 DM2 cases from which muscle biopsies were taken for diagnostic purposes during the period from 1973 to 2006, before genetic testing became available at our hospital. The DM1 group included 3 males (age at biopsy 15-19). The DM2 group included 15 patients (5 men and 10 women, age at biopsy 26-60). The preferential type 1 fibre atrophy was seen in all three DM1 cases in light microscopy, and substantial central nucleation was present in two biopsies. Electron microscopy revealed central nuclei in all three examined muscle biopsies. No other structural or degenerative changes were detected, probably due to the young age of our patients. Central nucleation, prevalence of type 2 muscle fibres, and the presence of pyknotic nuclear clumps were observed in DM2 patients in light microscopy. Among the ultrastructural abnormalities observed in our DM2 group, the presence of internal nuclei, severely atrophied muscle fibres, and lipofuscin accumulation were consistent findings. In addition, a variety of ultrastructural abnormalities were identified by us in DM2. It appears that no single ultrastructural abnormality is characteristic for the DM2 muscle pathology. It seems, however, that certain constellations of morphological changes might be indicative of certain types of myotonic dystrophy.

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. 

Angiographic Cystoid Macular Edema and Outcomes in the Comparison of Age-Related Macular Degeneration Treatments Trials.

Science.gov (United States)

Shah, Neepa; Maguire, Maureen G; Martin, Daniel F; Shaffer, James; Ying, Gui-Shuang; Grunwald, Juan E; Toth, Cynthia A; Jaffe, Glenn J; Daniel, Ebenezer

2016-04-01

To describe morphologic and visual outcomes in eyes with angiographic cystoid macular edema (CME) treated with ranibizumab or bevacizumab for neovascular age-related macular degeneration (nAMD). Prospective cohort study within a randomized clinical trial. A total of 1185 CATT study subjects. Baseline fluorescein angiography (FA) images of all CATT study eyes were evaluated for CME. Grading of other characteristics on optical coherence tomography (OCT) and photographic images at baseline and during 2-year follow-up was completed by readers at the CATT Reading Centers. Three groups were created on the basis of baseline CME and intraretinal fluid (IRF) status: (1) CME, (2) IRF without CME, (3) neither CME nor IRF. Visual acuity (VA) and total central retinal thickness (CRT) on OCT at baseline, year 1, and year 2. Among 1131 participants with images of sufficient quality for determining CME and IRF at baseline, 92 (8.1%) had CME, 766 (67.7%) had IRF without CME, and 273 (24.1%) had neither. At baseline, eyes with CME had worse mean VA (letters) than eyes with IRF without CME and eyes with neither CME nor IRF (52 vs. 60 vs. 66 letters, P macular edema seems to be a marker for poorer visual outcomes in nAMD because of underlying baseline retinal dysfunction and subsequent scarring. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

An epidemiological approach for the estimation of disease onset in Central Europe in central and peripheral monogenic retinal dystrophies.

Science.gov (United States)

Prokofyeva, Elena; Wilke, Robert; Lotz, Gunnar; Troeger, Eric; Strasser, Torsten; Zrenner, Eberhart

2009-07-01

To study clinical patterns of disease onset in monogenic retinal dystrophies (MRD), using an epidemiological approach. Records of patients with MRD, seen at the University Eye Hospital Tuebingen from 1994 to 1999, were selected from a database and retrospectively reviewed. For analysis, patients were divided into 2 groups by predominant part of visual field (VF) involvement: group 1 (predominantly central involvement) included Stargardt disease (ST), macular dystrophy (MD), and central areolar choroidal dystrophy (CACD), and group 2 (predominantly peripheral involvement) included Bardet-Biedl syndrome (BBD), Usher syndrome (USH) I and II, and choroideremia (CHD). Age, sex, age of first diagnosis, age of visual acuity (VA) decrease and VF emergence, night blindness and photophobia onset, types of VF defects and age of its onset, color discrimination defects and best corrected VA were analyzed. Records of 259 patients were studied. Men were more prevalent than women. Mean age of the patients was 47.2 (SD = 15.6) years old. Forty-five patients in the first group and 40 in the second were first diagnosed between 21 and 30 years of age. Ninety-four patients in the first group had VA decrease before 30 years of age; in the second group, 68 patients had VA decrease onset between 21 and 40 years of age. Forty-four patients in the first group noticed VF at an age between 21 and 30 years, and 74 patients between 11 and 30 years in the second group. Central scotoma was typical for the first group, and was detected in 115 patients. Concentric constriction was typical for the second group, and was found in 81 patients. Half of patients in both groups preserved best-corrected VA in the better eye at a level of 20/40 or better; 7% in the first group and 6% in the second group were registered as legally blind according to WHO criteria, having VA <1/50 or VF <5 degrees . Diagnosis frequency was USH I and II-34%, ST-31%, MD-18%, CHD-14%, BBD-5%. An epidemiological approach to the

[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.

Computerized tomography in myotonic dystrophy

International Nuclear Information System (INIS)

Gellerich, I.; Mueller, D.; Koch, R.D.

1986-01-01

Besides clinical symptoms, progress and electromyography computerized tomography improves the diagnostics of myotonic dystrophy. Even small changes in muscular structure are detectable and especially the musculus soleus exhibits early and pronounced alterations. By means of density distribution pattern an improved characterization of the disease is possible. Additional information is obtained by cerebral computerized tomography. Atrophy of brain tissue is to be expected in all patients with myotonic dystrophy. (author)

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease

Directory of Open Access Journals (Sweden)

Edoardo Abed

2017-01-01

Full Text Available Stargardt disease (STGD1 is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment epithelium. The aim of this study was to evaluate the relationship between cone photoreceptor function and structure in STGD1. Macular function was assessed by visual acuity measurement and focal electroretinogram (FERG recording while spectral domain optical coherence tomography (SD-OCT imaging was performed to evaluate the integrity of photoreceptors. FERG amplitude was significantly reduced in patients with Stargardt disease (p<0.0001. The amplitude of FERG showed a negative relationship with interruption of ellipsoid zone (EZ (R2=0.54, p<0.0001 and a positive correlation with average macular thickness (AMT. Conversely, visual acuity was only weakly correlated with central macular thickness (CMT (R2=0.12, p=0.04. In conclusion, this study demonstrates that FERG amplitude is a reliable indicator of macular cone function while visual acuity reflects the activity of the foveal region. A precise assessment of macular cone function by FERG recording may be useful to monitor the progression of STGD1 and to select the optimal candidates to include in future clinical trials to treat this disease.

Becker muscular dystrophy: an unusual presentation.

OpenAIRE

Thakker, P B; Sharma, A

1993-01-01

A 15 year old boy who presented with passing painless dark urine was found to have myoglobinuria. His creatine phosphokinase was raised, and a muscle biopsy specimen showed non-specific dystrophic changes. Subsequent DNA analysis led to the diagnosis of Becker muscular dystrophy. Myoglobinuria may be a presenting symptom of Becker muscular dystrophy.

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

DEFF Research Database (Denmark)

Kamsteeg, Erik-Jan; Kress, Wolfram; Catalli, Claudio

2012-01-01

-onset baldness and cataract. In adult patients, cardiac conduction abnormalities may occur and cause a shorter life span. In subsequent generations, the symptoms in DM1 may present at an earlier age and have a more severe course (anticipation). In myotonic dystrophy type 2 (DM2), no anticipation is described...

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)....

Heme oxygenase and carbon monoxide protect from muscle dystrophy.

Science.gov (United States)

Chan, Mun Chun; Ziegler, Olivia; Liu, Laura; Rowe, Glenn C; Das, Saumya; Otterbein, Leo E; Arany, Zoltan

2016-11-28

Duchenne muscle dystrophy (DMD) is one of the most common lethal genetic diseases of children worldwide and is 100% fatal. Steroids, the only therapy currently available, are marred by poor efficacy and a high side-effect profile. New therapeutic approaches are urgently needed. Here, we leverage PGC-1α, a powerful transcriptional coactivator known to protect against dystrophy in the mdx murine model of DMD, to search for novel mechanisms of protection against dystrophy. We identify heme oxygenase-1 (HO-1) as a potential novel target for the treatment of DMD. Expression of HO-1 is blunted in the muscles from the mdx murine model of DMD, and further reduction of HO-1 by genetic haploinsufficiency worsens muscle damage in mdx mice. Conversely, induction of HO-1 pharmacologically protects against muscle damage. Mechanistically, HO-1 degrades heme into biliverdin, releasing in the process ferrous iron and carbon monoxide (CO). We show that exposure to a safe low dose of CO protects against muscle damage in mdx mice, as does pharmacological treatment with CO-releasing molecules. These data identify HO-1 and CO as novel therapeutic agents for the treatment of DMD. Safety profiles and clinical testing of inhaled CO already exist, underscoring the translational potential of these observations.

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.

CT findings of muscular dystrophy

International Nuclear Information System (INIS)

Saitoh, Hiroshi

1991-01-01

CT scans of muscles in patients with limb girdle type (LG), myotonic type (MYD) and Duchenne type (DMD) dystrophies were obtained at five different body levels: the neck, L3 vertebral body, pelvic girdle, thigh and lower leg. CT numbers, cross sectional areas (CSA) and %CSA of muscle or fat were evaluated in each muscle. The characteristic CT patterns for each type of muscular dystrophy were obtained. Compared with DMD, the gracilis and soleus were more severely damaged in LG and the biceps femoris remained relatively preserved among the hamstrings. In addition, the multifidus of the neck and sternocleidomastoid also were more severely damaged in MYD. This study suggests that CT scan will be useful in the differential diagnosis of these types of muscular dystrophy as well as in planning appropriate rehabilitation and detecting damaged muscles. (author)

CINRG: Infrastructure for Clinical Trials in Duchenne Dystrophy

Science.gov (United States)

2013-09-01

monitoring visit to monitor this study, the PITT0908 clinical trial, a study on facioscapulohumeral muscular dystrophy (FSHD), and PITT0112 Becker natural...height findings manuscript are currently in working stage and circulating among co-authors for editing. 2.3.6 Becker Muscular Dystrophy – A Natural...participants with Becker muscular dystrophy . The study period is 36 months per patient. This project is primarily funded by the National Institutes of

Cierre espontáneo de agujero macular idiopático:: seguimiento por tomografía de coherencia óptica y microperimetría MP1 Spontaneous closure of the idiopathic macular hole.: Follow-up of this case by optical coherence tomography and microperimetry MP1

Directory of Open Access Journals (Sweden)

Julio César Molina Martín

2010-12-01

Full Text Available Se presenta un caso de cierre espontáneo de agujero macular idiopático seguido por tomografía de coherencia óptica y microperimetría MP1 antes y después del cierre. El cierre espontáneo de un estadio 4 no ocurre con frecuencia, sin embargo, puede aparecer fundamentalmente en pacientes con diámetro superior del agujero menor a 150 micras. La tomografía de coherencia óptica y la microperimetría constituyen herramientas útiles en el diagnóstico, pronóstico y seguimiento de esta entidad.The case of spontaneous closure of a stage 4 idiopathic macular hole at followed up by Optical Coherence Tomography and microperimetry MP1 before and after the closure was presented. The spontaneous closure of a stage 4 macular hole is rare but it can occur in patients with hole upper diameters less than 150 µm. The OCT and the microperimetry MP1 are very useful tools in the diagnosis, prognosis and follow-up of this maculopathy.

Correlation of visual acuity and central macular morphology in different types of diabetic macular edema

Directory of Open Access Journals (Sweden)

Qiu-Ju Wu

2016-02-01

Full Text Available AIM:To observe the correlation of visual acuity and central macular morphology in patients with different types of diabetic macular edema(DME. METHODS: Presented study was single-center, uncontrolled retrospective clinical study. Sixty-two patients(103 eyeswith DME were included. Best corrected visual acuity(BCVAwas evaluated using early treatment diabetic retinopathy study(ETDRSvision test chart. All patients were examined by non-contact tonometer, slit lamp, indirect ophthalmoscope, and fundus fluorescein angiography(FFA. Central subfield mean thickness(CSMTin the macular area of diameter 1mm was measured by optical coherence tomography(OCT.And in the same time the integrity of inner segments/ outer segments(IS/OSand external limiting membrane(ELMreflecting light strip of 350μm center horizontal scanning line was investigated by OCT. BCVA and CSMT in different types of DME patients were analyzed using Kruskal- Wallis test. BCVA and CSMT between the two-two groups in different types of DME patients were analyzed using Nemenyi test, and multiple regression analysis was used to analyze the relative factors of BCVA. RESULTS: In the 103 eyes, 47 eyes(45.6%were focal DME, 35 eyes(34.0%were diffuse DME, 6 eyes(5.8%were ischemic DME and 15 eyes(14.6%were proliferative DME. The difference of mean BCVA(H=69.167, PH=57.113, Pχ2=14.982,Pχ2=14.537,Pχ2=15.596,Pχ2=15.393,Pχ2=16.567,Pχ2=15.687,Pχ2=12.974、P=0.008; CSMT:χ2=13.999,Pr=-0.064,-0.207,-0.082 and -0.160, respectively, Pr=-0.885, -2.522, -1.504, and-0.595, respectively, P>0.05. CONCLUSION: There are statistically significant differences on macular morphology and vision function among different types of DME patients.

Cardiac function associated with home ventilator care in Duchenne muscular dystrophy.

Science.gov (United States)

Lee, Sangheun; Lee, Heeyoung; Eun, Lucy Youngmin; Gang, Seung Woong

2018-02-01

Cardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications. To clarify cardiopulmonary function, we compared cardiac function between the home ventilator-assisted and non-ventilator-assisted groups. We retrospectively reviewed patients with Duchenne muscular dystrophy from January 2010 to March 2016 at Gangnam Severance Hospital. Demographic characteristics, pulmonary function, and echocardiography data were investigated. Fifty-four patients with Duchenne muscular dystrophy were divided into 2 groups: home ventilator-assisted and non-ventilator-assisted. The patients in the home ventilator group were older (16.25±1.85 years) than those in the nonventilator group (14.73±1.36 years) ( P =0.001). Height, weight, and body surface area did not differ significantly between groups. The home ventilator group had a lower seated functional vital capacity (1,038±620.41 mL) than the nonventilator group (1,455±603.12 mL). Mean left ventricular ejection fraction and fractional shortening were greater in the home ventilator group, but the data did not show any statistical difference. The early ventricular filling velocity/late ventricular filling velocity ratio (1.7±0.44) was lower in the home ventilator group than in the nonventilator group (2.02±0.62). The mitral valve annular systolic velocity was higher in the home ventilator group (estimated β, 1.06; standard error, 0.48). Patients with Duchenne muscular dystrophy on a ventilator may have better systolic and diastolic cardiac functions. Noninvasive ventilator assistance can help preserve cardiac function. Therefore, early utilization of noninvasive ventilation or oxygen may positively influence cardiac function in patients with Duchenne muscular dystrophy.

[Pharmacological therapy of age-related macular degeneration based on etiopathogenesis].

Science.gov (United States)

Fischer, Tamás

2015-11-15

It is of great therapeutic significance that disordered function of the vascular endothelium which supply the affected ocular structures plays a major role in the pathogenesis and development of age-related macular degeneration. Chronic inflammation is closely linked to diseases associated with endothelial dysfunction, and age-related macular degeneration is accompanied by a general inflammatory response. According to current concept, age-related macular degeneration is a local manifestation of systemic vascular disease. This recognition could have therapeutic implications because restoration of endothelial dysfunction can restabilize the condition of chronic vascular disease including age-related macular degeneration as well. Restoration of endothelial dysfunction by pharmaacological or non pharmacological interventions may prevent the development or improve endothelial dysfunction, which result in prevention or improvement of age related macular degeneration as well. Medicines including inhibitors of the renin-angiotensin system (converting enzyme inhibitors, angiotensin-receptor blockers and renin inhibitors), statins, acetylsalicylic acid, trimetazidin, third generation beta-blockers, peroxisome proliferator-activated receptor gamma agonists, folate, vitamin D, melatonin, advanced glycation end-product crosslink breaker alagebrium, endothelin-receptor antagonist bosentan, coenzyme Q10; "causal" antioxidant vitamins, N-acetyl-cysteine, resveratrol, L-arginine, serotonin receptor agonists, tumor necrosis factor-alpha blockers, specific inhibitor of the complement alternative pathway, curcumin and doxycyclin all have beneficial effects on endothelial dysfunction. Restoration of endothelial dysfunction can restabilize chronic vascular disease including age-related macular degeneration as well. Considering that the human vascular system is consubstantial, medicines listed above should be given to patients (1) who have no macular degeneration but have risk factors

Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

DEFF Research Database (Denmark)

Bertelsen, Mette; Jensen, Hanne; Larsen, Michael

2013-01-01

Abstract Purpose: The aim of the present population-based cross-sectional study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children. Methods: The Danish Registry for the Blind and Partially Sighted Children comprises all visually impaired......: Of the 1,204,235 Danish children aged 0-17 years on 1 October 2011, 2017 children were registered as visually impaired. Of these, 153 cases were attributed to generalized retinal dystrophy, corresponding to a prevalence of 13 per 100,000 children. The age-specific prevalence increased prominently...... children residing in Denmark aged 0-17 years. Among registered children, the primary diagnosis of generalized retinal dystrophy was assessed by chart review, including fundus photographs and electroretinograms. Age-specific data for live children in Denmark were retrieved from Statistics Denmark. Results...

Vitrectomy for optic disk pit with macular schisis and outer retinal dehiscence.

Science.gov (United States)

Shukla, Dhananjay; Kalliath, Jay; Tandon, Manish; Vijayakumar, Balakrishnan

2012-07-01

To describe the outcomes of vitrectomy for optic disc pit-related maculopathy with central outer retinal dehiscence. This prospective interventional case series included seven patients with optic disc pit with macular schisis and central outer retinal dehiscence who underwent vitrectomy with internal limiting membrane peeling, barrage laser photocoagulation, and gas tamponade and were followed for at least 6 months. The surgical outcomes in terms of restoration of macular anatomy and visual improvement were recorded at each visit by fundus photography and optical coherence tomography. The mean age of the patients was 21.3 ± 8.6 years (range, 10-35 years), and the mean duration of defective vision was 6.7 ± 8.5 months (range, 1-24 months). Preoperatively, the median best-corrected visual acuity (BCVA) was 20/60 (range, 20/40 to 20/120). Full-thickness macular holes were noticed in 4 patients 1 month postoperatively. Gas tamponade was repeated in two patients with large macular holes. By the final follow-up, macular holes had closed and BCVA improved in all patients except one. Final mean central macular thickness was 176.83 ± 55.74 μ, the range being 109 μ to 256 μ. The median postoperative BCVA was 20/30 (range, 20/20 to 20/80). Six of 7 patients (85.7%) had improvement in BCVA postoperatively (mean, +2 lines; range, 1-4 lines). Five patients (71%) achieved a postoperative BCVA of ≥20/30. Best-corrected visual acuity dropped by one line in the patient with persistent macular hole. Vitrectomy with internal limiting membrane peeling can achieve excellent final surgical outcomes in optic pit maculopathy with outer retinal dehiscence despite the potential for macular hole formation.

Endocrine function over time in patients with myotonic dystrophy type 1

DEFF Research Database (Denmark)

Dahlqvist, Julia Rebecka; Ørngreen, M C; Witting, N

2015-01-01

BACKGROUND AND PURPOSE: Patients with myotonic dystrophy type 1 (DM1) have an increased incidence of endocrine dysfunction. In this study, the temporal evolution of endocrine dysfunction in patients with DM1 was investigated. METHODS: Endocrine function was assessed in 68 patients with DM1, in whom...... endocrine function had been followed, on average, for 8 years. The endocrine function was assessed by measuring the concentration of hormones and metabolites in blood and by validating libido with questionnaires. RESULTS: At baseline, 30 of the 68 patients presented with at least one hormonal dysfunction....... When re-evaluated after 8 years, 57 of 68 patients had endocrine dysfunction. Diabetic patients had increased from one to four. At follow-up, hyperparathyroidism occurred in 25% and abnormal thyroid-stimulating hormone in 21%, compared with 14% and 9% at baseline. Sixteen of 33 men had increased...

Macular Pigment and Lutein Supplementation in ABCA4-associated Retinal Degenerations

Science.gov (United States)

Aleman, Tomas S.; Cideciyan, Artur V.; Windsor, Elizabeth A. M.; Schwartz, Sharon B.; Swider, Malgorzata; Chico, John D.; Sumaroka, Alexander; Pantelyat, Alexander Y.; Duncan, Keith G.; Gardner, Leigh M.; Emmons, Jessica M.; Steinberg, Janet D.; Stone, Edwin M.; Jacobson, Samuel G.

2008-01-01

PURPOSE To determine macular pigment (MP) optical density (OD) in patients with ABCA4-associated retinal degenerations (ABCA4-RD) and the response of MP and vision to supplementation with lutein. METHODS Stargardt disease or cone-rod dystrophy patients with foveal fixation and with known or suspected disease-causing mutations in the ABCA4 gene were included. MPOD profiles were measured with heterochromatic flicker photometry. Serum carotenoids, visual acuity, foveal sensitivity and retinal thickness were quantified. Changes in MPOD and central vision were determined in a subset of patients receiving oral supplementation with lutein for 6 months. RESULTS MPOD in patients ranged from normal to markedly abnormal. As a group, ABCA4-RD patients had reduced foveal MPOD and there was strong correlation with retinal thickness. Average foveal tissue concentration of MP, estimated by dividing MPOD by retinal thickness, was normal in patients whereas serum concentration of lutein and zeaxanthin was significantly lower than normal. After oral lutein supplementation for 6 months, 91% of the patients showed significant increases in serum lutein and 63% of the patient eyes showed a significant augmentation in MPOD. The retinal responders tended to be female, and have lower serum lutein and zeaxanthin, lower MPOD and greater retinal thickness at baseline. Responding eyes had significantly lower baseline MP concentration compared to non-responding eyes. Central vision was unchanged after the period of supplementation. CONCLUSIONS MP is strongly affected by the stage of ABCA4 disease leading to abnormal foveal architecture. MP could be augmented by supplemental lutein in some patients. There was no change in central vision after 6 months of lutein supplementation. Long-term influences on the natural history of this supplement on macular degenerations require further study. PMID:17325179

Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001.

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Fox, Deborah J; Kumar, Anil; West, Nancy A; DiRienzo, A Gregory; James, Katherine A; Oleszek, Joyce

2015-01-01

This study examines trends in corticosteroid use for males with Duchenne muscular dystrophy by birth year, race/ethnicity, and knowledge of Duchenne muscular dystrophy family history. Firstborn males (n = 521) selected from a population-based surveillance system of Duchenne muscular dystrophy were analyzed using Kaplan Meier and regression methods. Comparing males born 1982 to 1986 with males born 1997 to 2001, steroid use increased from 54% to 72% and mean age at steroid initiation decreased from 8.2 to 7.1 years. Hispanics and non-Hispanic Black males used steroids less frequently and delayed initiation compared to white males. Compared to males without a Duchenne muscular dystrophy family history, males with known family history were half as likely to use steroids. Duration of steroid use increased over time and age at initiation decreased. Racial/ethnic disparities exist for steroid use and should be addressed to improve outcome and quality of life for boys with Duchenne muscular dystrophy. © The Author(s) 2014.

Correlations Between Macular, Skin, and Serum Carotenoids

Science.gov (United States)

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

2017-01-01

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

Corticosteroid Treatment in Diabetic Macular Edema

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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.

Modeling and parametric simulations of solid oxide fuel cells with methane carbon dioxide reforming

International Nuclear Information System (INIS)

Ni, Meng

2013-01-01

Highlights: ► A 2D model is developed for solid oxide fuel cells (SOFCs). ► CH 4 reforming by CO 2 (MCDR) is included. ► SOFC with MCDR shows comparable performance with methane steam reforming SOFC. ► Increasing CO electrochemical oxidation greatly enhances the SOFC performance. ► Effects of potential and temperature on SOFC performance are also discussed. - Abstract: A two-dimensional model is developed to simulate the performance of solid oxide fuel cells (SOFCs) fed with CO 2 and CH 4 mixture. The electrochemical oxidations of both CO and H 2 are included. Important chemical reactions are considered in the model, including methane carbon dioxide reforming (MCDR), reversible water gas shift reaction (WGSR), and methane steam reforming (MSR). It’s found that at a CH 4 /CO 2 molar ratio of 50/50, MCDR and reversible WGSR significantly influence the cell performance while MSR is negligibly small. The performance of SOFC fed with CO 2 /CH 4 mixture is comparable to SOFC running on CH 4 /H 2 O mixtures. The electric output of SOFC can be enhanced by operating the cell at a low operating potential or at a high temperature. In addition, the development of anode catalyst with high activity towards CO electrochemical oxidation is important for SOFC performance enhancement. The model can serve as a useful tool for optimization of the SOFC system running on CH 4 /CO 2 mixtures

Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping.

Science.gov (United States)

Vulin, Adeline; Barthélémy, Inès; Goyenvalle, Aurélie; Thibaud, Jean-Laurent; Beley, Cyriaque; Griffith, Graziella; Benchaouir, Rachid; le Hir, Maëva; Unterfinger, Yves; Lorain, Stéphanie; Dreyfus, Patrick; Voit, Thomas; Carlier, Pierre; Blot, Stéphane; Garcia, Luis

2012-11-01

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder resulting from lesions of the gene encoding dystrophin. These usually consist of large genomic deletions, the extents of which are not correlated with the severity of the phenotype. Out-of-frame deletions give rise to dystrophin deficiency and severe DMD phenotypes, while internal deletions that produce in-frame mRNAs encoding truncated proteins can lead to a milder myopathy known as Becker muscular dystrophy (BMD). Widespread restoration of dystrophin expression via adeno-associated virus (AAV)-mediated exon skipping has been successfully demonstrated in the mdx mouse model and in cardiac muscle after percutaneous transendocardial delivery in the golden retriever muscular dystrophy dog (GRMD) model. Here, a set of optimized U7snRNAs carrying antisense sequences designed to rescue dystrophin were delivered into GRMD skeletal muscles by AAV1 gene transfer using intramuscular injection or forelimb perfusion. We show sustained correction of the dystrophic phenotype in extended muscle areas and partial recovery of muscle strength. Muscle architecture was improved and fibers displayed the hallmarks of mature and functional units. A 5-year follow-up ruled out immune rejection drawbacks but showed a progressive decline in the number of corrected muscle fibers, likely due to the persistence of a mild dystrophic process such as occurs in BMD phenotypes. Although AAV-mediated exon skipping was shown safe and efficient to rescue a truncated dystrophin, it appears that recurrent treatments would be required to maintain therapeutic benefit ahead of the progression of the disease.

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

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

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

Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1.

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Serra, Laura; Silvestri, Gabriella; Petrucci, Antonio; Basile, Barbara; Masciullo, Marcella; Makovac, Elena; Torso, Mario; Spanò, Barbara; Mastropasqua, Chiara; Harrison, Neil A; Bianchi, Maria L E; Giacanelli, Manlio; Caltagirone, Carlo; Cercignani, Mara; Bozzali, Marco

2014-05-01

Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy observed in adults, is a genetic multisystem disorder affecting several other organs besides skeletal muscle, including the brain. Cognitive and personality abnormalities have been reported; however, no studies have investigated brain functional networks and their relationship with personality traits/disorders in patients with DM1. To use resting-state functional magnetic resonance imaging to assess the potential relationship between personality traits/disorders and changes to functional connectivity within the default mode network (DMN) in patients with DM1. We enrolled 27 patients with genetically confirmed DM1 and 16 matched healthy control individuals. Patients underwent personality assessment using clinical interview and Minnesota Multiphasic Personality Inventory-2 administration; all participants underwent resting-state functional magnetic resonance imaging. Investigations were conducted at the Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation, Catholic University of Sacred Heart, and Azienda Ospedaliera San Camillo Forlanini. Resting-state functional magnetic resonance imaging. Measures of personality traits in patients and changes in functional connectivity within the DMN in patients and controls. Changes in functional connectivity and atypical personality traits in patients were correlated. We combined results obtained from the Minnesota Multiphasic Personality Inventory-2 and clinical interview to identify a continuum of atypical personality profiles ranging from schizotypal personality traits to paranoid personality disorder within our DM1 patients. We also demonstrated an increase in functional connectivity in the bilateral posterior cingulate and left parietal DMN nodes in DM1 patients compared with controls. Moreover, patients with DM1 showed strong associations between DMN functional connectivity and schizotypal-paranoid traits. Our findings provide novel

Muscular Dystrophy

Science.gov (United States)

... sets of muscles and cause different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the most severe ... can walk independently. Prednisone If a child has Duchenne muscular ... to help slow the rate of muscle deterioration. By doing so, the child may be ...

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)

Muscular Dystrophy (MD)

Science.gov (United States)

... patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. View Full Treatment Information Definition The muscular dystrophies (MD) are a group of more than 30 ...

Intraretinal hemorrhages in cystoid macular edema.

Science.gov (United States)

Bovino, J A; Kelly, T J; Marcus, D F

1984-08-01

Retinal hemorrhages can be associated with typical cystoid macular edema. We examined the fundus photographs and fluorescein angiograms of 313 eyes of 264 patients with documented cystoid macular edema to establish the incidence and characteristics of associated intraretinal hemorrhages. As we wanted to study only those hemorrhages unique to cystoid macular edema, we excluded 86 eyes because the patients had diseases known to be associated with retinal hemorrhages. These diseases included diabetes mellitus, branch retinal vein occlusion, hypertensive retinopathy, venous stasis retinopathy, and perifoveal telangiectasia. Of the remaining 227 eyes with cystoid macular edema, 56 (24.7%) were identified with retinal hemorrhages not associated with systemic disease. The hemorrhages were characteristically oval, round, or linear and frequently filled or partially filled the intraretinal cystoid space. In many patients, a blood-fluid level was observed.

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

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

Science.gov (United States)

Anthony, Karen; Cirak, Sebahattin; Torelli, Silvia; Tasca, Giorgio; Feng, Lucy; Arechavala-Gomeza, Virginia; Armaroli, Annarita; Guglieri, Michela; Straathof, Chiara S; Verschuuren, Jan J; Aartsma-Rus, Annemieke; Helderman-van den Enden, Paula; Bushby, Katherine; Straub, Volker; Sewry, Caroline; Ferlini, Alessandra; Ricci, Enzo; Morgan, Jennifer E; Muntoni, Francesco

2011-12-01

Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy phenotype to that of the milder disorder, Becker muscular dystrophy, typically caused by in-frame dystrophin deletions that allow the production of an internally deleted but partially functional dystrophin. There is ongoing debate regarding the functional properties of the different internally deleted dystrophins produced by exon skipping for different mutations; more insight would be valuable to improve and better predict the outcome of exon skipping clinical trials. To this end, we have characterized the clinical phenotype of 17 patients with Becker muscular dystrophy harbouring in-frame deletions relevant to on-going or planned exon skipping clinical trials for Duchenne muscular dystrophy and correlated it to the levels of dystrophin, and dystrophin-associated protein expression. The cohort of 17 patients, selected exclusively on the basis of their genotype, included 4 asymptomatic, 12 mild and 1 severe patient. All patients had dystrophin levels of >40% of control and significantly higher dystrophin (P = 0.013), β-dystroglycan (P = 0.025) and neuronal nitric oxide synthase (P = 0.034) expression was observed in asymptomatic individuals versus symptomatic patients with Becker muscular dystrophy. Furthermore, grouping the patients by deletion, patients with Becker muscular dystrophy with deletions with an end-point of exon 51 (the skipping of which could rescue the largest group of Duchenne muscular dystrophy deletions) showed significantly higher dystrophin levels (P = 0.034) than those with deletions ending with exon 53. This is the first quantitative study on both

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

Directory of Open Access Journals (Sweden)

Pukhraj Rishi

2012-01-01

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

Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

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Feder D

2017-10-01

Full Text Available David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery and Surgical Specialties, University of Modena and Reggio Emilia Medical School, Surgical Clinic, Modena, Italy; 3Neuroscience Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil Abstract: Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting in the bone density reduction and increased incidence of bone fractures and fat embolism syndrome, an underdiagnosed complication after fractures. Fat embolism syndrome is characterized by consciousness disturbance, respiratory failure and skin rashes. The use of steroids in Duchenne muscular dystrophy may result in vertebral fractures, even without previous trauma. Approximately 25% of patients with Duchenne muscular dystrophy have a long bone fracture, and 1% to 22% of fractures have a chance to develop fat embolism syndrome. As the patients with Duchenne muscular dystrophy have progressive cardiac and respiratory muscle dysfunction, the fat embolism may be unnoticed clinically and may result in increased risk of death and major complications. Different treatments and prevention measures of fat embolism have been proposed; however, so far, there is no efficient therapy. The prevention, early diagnosis and adequate symptomatic treatment are of paramount importance. The fat embolism syndrome should always be considered in patients with Duchenne muscular dystrophy presenting with fractures, or an unexplained and

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 ...

CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

Energy Technology Data Exchange (ETDEWEB)

Hirase, Tsutomu; Ide, Masami; Araki, Shukuro; Okamoto, Hiroshi (Kumamoto Univ. (Japan). School of Medicine); Kawasaki, Shoichiro; Imamura, Shigehiro

1983-06-01

We analyzed the microcomponents of protein fractions in the cerebrospinal fluid of patients with various types of muscular dystrophy. The degenerative pattern is characterized by an increase in the prealbumin and a decrease in the ..gamma..-globulin fraction is shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, ..gamma..-globulin fraction is shown in the myotonic dystrophy. In addition to the abnormality of IQ, EEG, and brain CT, abnormal CSF proteins obviously suggest the presence of CNS involvement in muscular dystrophy.

CT finding and cerebrospinal fluid proteins in muscular dystrophy patients

International Nuclear Information System (INIS)

Hirase, Tsutomu; Ide, Masami; Araki, Shukuro; Okamoto, Hiroshi; Kawasaki, Shoichiro; Imamura, Shigehiro.

1983-01-01

We analyzed the microcomponents of protein fractions in the cerebrospinal fluid of patients with various types of muscular dystrophy. The degenerative pattern is characterized by an increase in the prealbumin and a decrease in the γ-globulin fraction is shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, γ-globulin fraction is shown in the myotonic dystrophy. In addition to the abnormality of IQ, EEG, and brain CT, abnormal CSF proteins obviously suggest the presence of CNS involvement in muscular dystrophy. (author)

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).

Photocoagulation treatment for clinically significant radiation macular oedema

International Nuclear Information System (INIS)

Kinyoun, J.L.; Zamber, R.W.; Lawrence, B.S.; Barlow, W.E.; Arnold, A.M.

1995-01-01

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)

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

The Intriguing Regulators of Muscle Mass in Sarcopenia and Muscular Dystrophy

OpenAIRE

Sakuma, Kunihiro; Aoi, Wataru; Yamaguchi, Akihiko

2014-01-01

Recent advances in our understanding of the biology of muscle have led to new interest in the pharmacological treatment of muscle wasting. Loss of muscle mass and increased intramuscular fibrosis occur in both sarcopenia and muscular dystrophy. Several regulators (mammalian target of rapamycin, serum response factor, atrogin-1, myostatin, etc.) seem to modulate protein synthesis and degradation or transcription of muscle-specific genes during both sarcopenia and muscular dystrophy. This revie...

Feasibility and effects of a physical exercise programme in adults with myotonic dystrophy type 1: a randomized controlled pilot study.

Science.gov (United States)

Kierkegaard, Marie; Harms-Ringdahl, Karin; Edström, Lars; Widén Holmqvist, Lotta; Tollbäck, Anna

2011-07-01

To investigate the feasibility and effects of a physical exercise programme on functioning and health-related quality of life in adults with myotonic dystrophy type 1. A randomized controlled trial. Thirty-five adults with myotonic dystrophy type 1. After stratification for level of functioning, study participants were assigned by lot to either a training group or a control group. Training-group participants attended a 60-minute comprehensive group-training programme, Friskis&Svettis® Open Doors, twice a week for 14 weeks. The six-minute walk test was the primary outcome measure and the timed-stands test, the timed up-and-go test, the Epworth sleepiness scale and the Short Form-36 health survey were secondary outcome measures. Intention-to-treat analyses revealed no significant differences in any outcome measures, except for an increased between-group difference after intervention in the Short Form-36 mental health subscale and a decrease in the vitality subscale for the control group. The programme was well tolerated and many training-group participants perceived subjective changes for the better. No negative effects were reported. The Friskis&Svettis® Open Doors programme was feasible for adults with myotonic dystrophy type 1 who had been screened for cardiac involvement, had distal or mild-to-moderate proximal muscle impairment, and no severe cognitive impairments. No beneficial or detrimental effects were evident.

Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome).

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Cacucci, Laura; Ricci, Beatrice; Moretti, Maria; Gasparini, Giulio; Pelo, Sandro; Grippaudo, Cristina

2017-01-01

Myotonic dystrophy, or Steinert's disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewing, breathing, and phonation. We present a case report of a 15-year-old boy with anterior open bite, upper and lower dental crowding, bilateral crossbite, and constriction of the upper jaw with a high and narrow palate. The patient's need was to improve his quality of life. Because of the severity of skeletal malocclusion, it was necessary to schedule a combined orthodontic and surgical therapy in order to achieve the highest aesthetic and functional result. Although therapy caused an improvement in patient's quality of life, the clinical management of the case was hard. The article shows a balance between costs and benefits of a therapy that challenges the nature of the main problem of the patient, and it is useful to identify the most appropriate course of treatment for similar cases.

Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome

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Laura Cacucci

2017-01-01

Full Text Available Myotonic dystrophy, or Steinert’s disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewing, breathing, and phonation. We present a case report of a 15-year-old boy with anterior open bite, upper and lower dental crowding, bilateral crossbite, and constriction of the upper jaw with a high and narrow palate. The patient’s need was to improve his quality of life. Because of the severity of skeletal malocclusion, it was necessary to schedule a combined orthodontic and surgical therapy in order to achieve the highest aesthetic and functional result. Although therapy caused an improvement in patient’s quality of life, the clinical management of the case was hard. The article shows a balance between costs and benefits of a therapy that challenges the nature of the main problem of the patient, and it is useful to identify the most appropriate course of treatment for similar cases.

Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran

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Khadijeh Hajinaghi Tehrani

2018-05-01

Full Text Available Muscular dystrophy is a group of diseases that is characterized by progressive muscle wasting and the weakness of variable distribution and severity. On the basis of the distribution of predominant muscle weakness, there are many different kinds of muscular dystrophy. Some dystrophies are especially frequent in certain populations. There are no studies on the prevalence of muscular dystrophy in Iran. This study was aimed to survey the prevalence of muscular dystrophy among Iranian patients with muscular disorders. This analytical cross-sectional study was conducted on 1000 patients with musculoskeletal disorders who visited the dystrophy association of Bou-Ali Hospital (Tehran from June 2014 to June 2016. Patients’ data were extracted using a checklist that included age, gender, age of onset, family history, findings from clinical diagnostic tests and types of muscular dystrophy. The clinical findings were the results of genetic tests; EMG-NCV; para-clinical findings, including LDH and CPK; and pathological findings. All data were analyzed by SPSS V.22 (IBM Inc., NY with Chi Square and One way ANOVA tests. All analyses were performed with P = 0.05 considered as the threshold of statistical significant. Out of the 337 patients studied, 262 (77.7% were male and 75 (22.3% were female. Subjects had a mean (± SD age of 26.08 (± 11.86 years with an age range of 3 to 59 years. The most common types of muscular dystrophy were found to be Duchenne dystrophy (131 cases, 38.9%, limb-girdle dystrophy (91 cases, 27%, Becker dystrophy (58 cases, 17.2%, FSHD dystrophy (31 cases, 9.2%, and SMA (26 cases, 7.7%, respectively. The results showed that a statistically significant relationship between dystrophy types and gender, age, family history, age of diagnosis, CPK and LDH levels (P < 0.001. There were no statistical relationship between dystrophy types and pathological findings (P = 0.57, EMG-NCV test results (P = 0.062, and genetic findings (P = 0

Evaluation of an oral telomerase activator for early age-related macular degeneration - a pilot study

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Dow CT

2016-01-01

Full Text Available Coad Thomas Dow,1,2 Calvin B Harley3 1McPherson Eye Research Institute, University of Wisconsin-Madison, Madison, WI, USA; 2Chippewa Valley Eye Clinic, Eau Claire, Wisconsin, WI, USA; 3Independent Telomere Biology Consultant, Murphys, CA, USA Purpose: Telomere attrition and corresponding cellular senescence of the retinal pigment epithelium contribute to the changes of age-related macular degeneration. Activation of the enzyme telomerase can add telomeric DNA to retinal pigment epithelium chromosomal ends and has been proposed as a treatment for age-related macular degeneration. We report the use of a small molecule, oral telomerase activator (TA-65 in early macular degeneration. This study, focusing on early macular degeneration, provides a model for the use of TAs in age-related disease.Method: Thirty-eight (38 patients were randomly assigned to a 1-year, double-blinded, placebo-controlled interventional study with arms for oral TA-65 or placebo. Macular functions via micro-perimetry were the primary measured outcomes.Results: The macular function in the arm receiving the TA-65 showed significant improvement relative to the placebo control. The improvement was manifest at 6 months and was maintained at 1 year: macular threshold sensitivity (measured as average dB [logarithmic decibel scale of light attenuation] improved 0.97 dB compared to placebo (P-value 0.02 and percent reduced thresholds lessened 8.2% compared to the placebo arm (P-value 0.04. Conclusion: The oral TA significantly improved the macular function of treatment subjects compared to controls. Although this study was a pilot and a larger study is being planned, it is noteworthy in that it is, to our knowledge, the first randomized placebo-controlled study of a TA supplement. Keywords: drusen, macular degeneration, micro-perimetry, senescence, telomerase activation, telomere

Macular edema in Asian Indian premature infants with retinopathy of prematurity: Impact on visual acuity and refractive status after 1-year

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Anand Vinekar

2015-01-01

Full Text Available Purpose: To report the impact of transient, self-resolving, untreated "macular edema" detected on spectral domain optical coherence tomography in Asian Indian premature infants with retinopathy of prematurity (ROP on visual acuity (VA and refraction at 1-year of corrected age. Materials and Methods: Visual acuity and refraction of 11 infants with bilateral macular edema (Group A was compared with gestational age-matched 16 infants with ROP without edema (Group B and 17 preterms infants without ROP and without edema (Group C at 3, 6, 9 and 12 months of corrected age using Teller Acuity Cards and cycloplegic retinoscopy. Sub-group analysis of the previously described pattern A and B macular edema was performed. Results: Visual acuity was lower in infants with macular edema compared with the other two control groups throughout the study period, but statistically significant only at 3 months. Visual improvement in these infants was highest between the 3 rd and 6 th month and plateaued by the end of the 1 st year with acuity comparable to the other two groups. The edema cohort was more hyperopic compared to the other two groups between 3 and 12 months of age. Pattern A edema had worse VA compared to pattern B, although not statistically significant. Conclusion: Macular edema, although transient, caused reduced VA as early as 3 months of corrected age in Asian Indian premature infants weighing <2000 g at birth. The higher hyperopia in these infants is possibly due to visual disturbances caused at a critical time of fovealization. We hypothesize a recovery and feedback mechanism based on the principles of active emmetropization to explain our findings.

Temporalis muscle hypertrophy and reduced skull eccentricity in Duchenne muscular dystrophy.

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Straathof, C S M; Doorenweerd, N; Wokke, B H A; Dumas, E M; van den Bergen, J C; van Buchem, M A; Hendriksen, J G M; Verschuuren, J J G M; Kan, H E

2014-10-01

Muscle hypertrophy and muscle weakness are well known in Duchenne muscular dystrophy. Decreased muscle force can have secondary effects on skeletal growth and development such as facial and dental morphology changes. In this study, we quantified temporal muscle thickness, circumference, and eccentricity of the skull and the head on T1-weighted magnetic resonance imaging (MRI) scans of the head of 15 Duchenne muscular dystrophy patients and 15 controls. Average temporal muscle thickness was significantly increased in patients (12.9 ± 5.2 mm) compared to controls (6.8 ± 1.4 mm) (P muscle thickness and skull eccentricity were significantly negatively correlated in patients, and positively in controls. Hypertrophy of the temporal muscles and changes in skull eccentricity appear to occur early in the course of Duchenne muscular dystrophy. Further studies in younger patients are needed to confirm a causal relationship. © The Author(s) 2014.

Gene therapy with recombinant adeno-associated vectors for neovascular age-related macular degeneration: 1 year follow-up of a phase 1 randomised clinical trial.

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Rakoczy, Elizabeth P; Lai, Chooi-May; Magno, Aaron L; Wikstrom, Matthew E; French, Martyn A; Pierce, Cora M; Schwartz, Steven D; Blumenkranz, Mark S; Chalberg, Thomas W; Degli-Esposti, Mariapia A; Constable, Ian J

2015-12-12

Neovascular, or wet, age-related macular degeneration causes central vision loss and represents a major health problem in elderly people, and is currently treated with frequent intraocular injections of anti-VEGF protein. Gene therapy might enable long-term anti-VEGF therapy from a single treatment. We tested the safety of rAAV.sFLT-1 in treatment of wet age-related macular degeneration with a single subretinal injection. In this single-centre, phase 1, randomised controlled trial, we enrolled patients with wet age-related macular degeneration at the Lions Eye Institute and the Sir Charles Gairdner Hospital (Nedlands, WA, Australia). Eligible patients had to be aged 65 years or older, have age-related macular degeneration secondary to active subfoveal choroidal neovascularisation, with best corrected visual acuity (BCVA) of 3/60-6/24 and 6/60 or better in the other eye. Patients were randomly assigned (3:1) to receive either 1 × 10(10) vector genomes (vg; low-dose rAAV.sFLT-1 group) or 1 × 10(11) vg (high-dose rAAV.sFLT-1 group), or no gene-therapy treatment (control group). Randomisation was done by sequential group assignment. All patients and investigators were unmasked. Staff doing the assessments were masked to the study group at study visits. All patients received ranibizumab at baseline and week 4, and rescue treatment during follow-up based on prespecified criteria including BCVA measured on the Early Treatment Diabetic Retinopathy Study (EDTRS) scale, optical coherence tomography, and fluorescein angiography. The primary endpoint was ocular and systemic safety. This trial is registered with ClinicalTrials.gov, number NCT01494805. From Dec 16, 2011, to April 5, 2012, we enrolled nine patients of whom eight were randomly assigned to receive either intervention (three patients in the low-dose rAAV.sFLT-1 group and three patients in the high-dose rAAV.sFLT-1 group) or no treatment (two patients in the control group). Subretinal injection of r

Macular edema might be a rare presentation of hydroxychloroquine-induced retinal toxicity

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Chih-Yao Chang

2017-01-01

Full Text Available The aim of this study is to report a rare case of macular edema as a presentation of hydroxychloroquine-related retinal toxicity. We presented a case of a 46-year-old female patient using hydroxychloroquine for underlying rheumatoid arthritis (RA with blurred vision over the left eye. Uveitis and macular edema were found initially. Systemic survey did not reveal any other etiology. Topical corticosteroid was given under the impression of RA-related uveitis. The uveitis resolved 1 week later, but macular edema persisted in spite of treatment. Under the suspicion of drug-related complication, we try to discontinue hydroxychloroquine. Her symptoms improved gradually after cessation of hydroxychloroquine, and further serial image study confirmed subsiding of the macular edema without any further treatment. Except the well-known signs of the retinal toxicity, macular edema might be a rare presentation of hydroxychloroquine-related retinal toxicity.

Ocriplasmin for treatment of stage 2 macular holes: early clinical results.

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Miller, John B; Kim, Leo A; Wu, David M; Vavvas, Demetrios G; Eliott, Dean; Husain, Deeba

2014-01-01

To review clinical and structural outcomes of ocriplasmin for treatment of stage 2 macular holes. A retrospective review of the first patients with stage 2 macular holes to be treated with ocriplasmin at Massachusetts Eye and Ear Infirmary. All patients were imaged with spectral-domain optical coherence tomography (SD-OCT). Eight patients with stage 2 macular holes received a single injection of 125 μg of ocriplasmin. One patient (12.5%) demonstrated macular hole closure. The posterior hyaloid separated from the macula in six eyes (75%). All seven holes that remained open showed enlargement in hole diameters (narrowest, apical, and basal) at 1 week and 1 month. All seven were successfully closed with surgery. Ellipsoid zone disruptions were observed by OCT in four eyes (50%) and persisted throughout follow-up (more than 6 months on average). In early clinical results, the authors found a lower macular hole closure rate with ocriplasmin than previously reported. Enlargement was observed in all holes that failed to close with ocriplasmin. The authors found ellipsoid zone disruptions that persisted through 6 months of follow-up after ocriplasmin injection. Further work is needed to investigate the cause for these ellipsoid zone changes. Copyright 2014, SLACK Incorporated.

Prevalence of cystic macular lesions in patients with Usher II syndrome.

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Walia, S; Fishman, G A; Hajali, M

2009-05-01

To evaluate the prevalence of cystic macular lesions in patients with Usher II syndrome. All Usher type II patients seen in the inherited eye disease clinic at the University of Illinois at Chicago between January 2002 and December 2007 were included (n=76). Each participating patient underwent a detailed clinical examination, including best-corrected visual acuity, slit-lamp biomicroscopy and dilated fundus examination. The presence of cystoid lesions was determined by optical coherence tomography (OCT), fundus fluorescein angiogram (FFA), fundus photographs and/or clinical examination. A cystic-appearing macular change was observed in at least one eye in 19 out of the 76 patients (25%), 13 on the basis of OCT, five using FFA (two solely with the use of FFA and three based on clinical notes and FFA findings) and one based solely on clinical notes. Of the 18 patients with CME, determined by OCT or FFA, five (27.8%) showed either a funduscopically normal-appearing macula (n=4) or an atrophic appearing macular change (n=1). One-fourth of our total cohort of Usher II patients had cystic macular lesions. Moreover, a funduscopically normal-appearing macula was observed in 22% (n=4) of our 18 patients with cystic-appearing macular lesions on OCT and/or FFA testing. On the basis of the reasonably high prevalence of cystic macular lesions in our cohort, it would seem prudent to evaluate Usher II patients for the presence of cystoid macular oedema.

Crystalline Subtype of Pre-Descemetic Corneal Dystrophy

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Rosa Dolz-Marco

2014-01-01

Full Text Available Purpose: To report corneal findings in a familial case of the crystalline subtype of pre- Descemetic corneal dystrophy. Case Report: A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored crystalline opacities across the whole posterior layer of the corneas. Endothelial specular microscopy revealed the presence of white round flecks located at different levels anterior to the endothelium. No systemic abnormalities or medications could be related to account for these findings. Conclusion: To the best of our knowledge, this is the third familial report of this rare corneal disorder. Differential diagnosis may include Schnyder corneal dystrophy, cystinosis, Bietti΄s dystrophy and monoclonal gammopathy.

Crystalline Subtype of Pre-Descemetic Corneal Dystrophy

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Dolz-Marco, Rosa; Gallego-Pinazo, Roberto; Pinazo-Durán, María Dolores; Díaz-Llopis, Manuel

2014-01-01

Purpose To report corneal findings in a familial case of the crystalline subtype of pre-Descemetic corneal dystrophy. Case Report A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored crystalline opacities across the whole posterior layer of the corneas. Endothelial specular microscopy revealed the presence of white round flecks located at different levels anterior to the endothelium. No systemic abnormalities or medications could be related to account for these findings. Conclusion To the best of our knowledge, this is the third familial report of this rare corneal disorder. Differential diagnosis may include Schnyder corneal dystrophy, cystinosis, Bietti´s dystrophy and monoclonal gammopathy. PMID:25279130

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.

Expression of Pannexin 1 and Pannexin 3 during skeletal muscle development, regeneration, and Duchenne muscular dystrophy.

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Pham, Tammy L; St-Pierre, Marie-Eve; Ravel-Chapuis, Aymeric; Parks, Tara E C; Langlois, Stéphanie; Penuela, Silvia; Jasmin, Bernard J; Cowan, Kyle N

2018-05-10

Pannexin 1 (Panx1) and Pannexin 3 (Panx3) are single membrane channels recently implicated in myogenic commitment, as well as myoblast proliferation and differentiation in vitro. However, their expression patterns during skeletal muscle development and regeneration had yet to be investigated. Here, we show that Panx1 levels increase during skeletal muscle development becoming highly expressed together with Panx3 in adult skeletal muscle. In adult mice, Panx1 and Panx3 were differentially expressed in fast- and slow-twitch muscles. We also report that Panx1/PANX1 and Panx3/PANX3 are co-expressed in mouse and human satellite cells, which play crucial roles in skeletal muscle regeneration. Interestingly, Panx1 and Panx3 levels were modulated in muscle degeneration/regeneration, similar to the pattern seen during skeletal muscle development. As Duchenne muscular dystrophy is characterized by skeletal muscle degeneration and impaired regeneration, we next used mild and severe mouse models of this disease and found a significant dysregulation of Panx1 and Panx3 levels in dystrophic skeletal muscles. Together, our results are the first demonstration that Panx1 and Panx3 are differentially expressed amongst skeletal muscle types with their levels being highly modulated during skeletal muscle development, regeneration, and dystrophy. These findings suggest that Panx1 and Panx3 channels may play important and distinct roles in healthy and diseased skeletal muscles. © 2018 Wiley Periodicals, Inc.

Facioscapulohumeral muscular dystrophy

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... There is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse. Physical therapy may help maintain muscle ...

Removal of choroidal neovascular membrane in a case of macular hole after anti-VEGF therapy for age-related macular degeneration.

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Hirata, Akira; Hayashi, Ken; Murata, Kazuhisa; Nakamura, Kei-Ichiro

2018-03-01

The formation of macular hole after receiving anti-vascular endothelial growth factor (anti-VEGF) therapy is rare. We report a case of macular hole that occurred after intravitreal injection of an anti-VEGF agent for age-related macular degeneration (AMD) in a patient, who underwent vitrectomy combined with choroidal neovascularization (CNV) removal. A 64-year-old female with AMD affecting her right eye received an intravitreal injection of an anti-VEGF agent. After treatment, we identified a full thickness macular hole (MH) that was associated with the rapid resolution of the macular edema and contraction of the CNV. After performing vitrectomy combined with CNV removal, the MH closed and her visual acuity improved. Examination of the removed CNV revealed a network of microvessels devoid of pericytes. and Importance: The present findings suggest that rapid resolution of macular edema and contraction of the CNV and/or mild increase in the vitreous traction after anti-VEGF therapy could potentially cause MH. CNV removal via the MH may be an acceptable procedure, if the MH remains open, the CNV is of the classic type, and it spares a central portion of the fovea.

Central areolar choroidal dystrophy with associated dominant drusen

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Julie Rodman

2013-04-01

Conclusion: Central areolar choroidal dystrophy normally presents without drusen. However, in patients manifesting a specific mutation, central areolar choridal dystrophy may present in conjunction with drusen. It appears that the Arg142Trp mutation is one of the factors predisposing to drusen formation.

Analysis of Macular Drusen and Blood Test Results in 945 Macaca fascicularis.

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Koji M Nishiguchi

Full Text Available Age-dependent formation of macular drusen caused by the focal accumulation of extracellular deposits beneath the retinal pigment epithelium precede the development of age-related macular degeneration (AMD, one of the leading causes of blindness worldwide. It is established that inflammation contributes to the pathogenesis of drusen and AMD. However, development of a preemptive therapeutic strategy targeting macular drusen and AMD has been impeded by the lack of relevant animal models because most laboratory animals lack macula, an anatomic feature present only in humans and a subset of monkeys. Reportedly, macular drusen and macular degeneration develop in monkeys in an age-dependent manner. In this study, we analyzed blood test results from 945 Macaca fascicularis, 317 with and 628 without drusen. First, a trend test for drusen frequency (the Cochran-Armitage test was applied to the quartile data for each parameter. We selected variables with an increasing or decreasing trend with higher quartiles at P < 0.05, to which multivariate logistic regression analysis was applied. This revealed a positive association of age (odds ratio [OR]: 1.10 per year, 95% confidence interval [CI]: 1.07-1.12 and white blood cell count (OR: 1.01 per 1 × 103/μl, 95% CI: 1.00-1.01 with drusen. When the monkeys were divided by age, the association between drusen and white blood cell count was only evident in younger monkeys (OR: 1.01 per 1 × 103/μl, 95% CI: 1.00-1.02. In conclusion, age and white blood cell count may be associated with drusen development in M. fascicularis. Systemic inflammation may contribute to drusen formation in monkeys.

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

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2011-03-01

Duchenne muscular dystrophy (DMD). To examine whether counteracting myostatin, a negative regulator of muscle mass and a pro-lipofibrotic factor...extracellular matrix, and fat, characterizes muscle dystrophy , and in particular Duchenne muscular dystrophy (DMD) (1,2), as seen also in its animal model...stem cells (MDSC) into myogenic as opposed to lipofibrogenic lineages is a promising therapeutic strategy for Duchenne muscular dystrophy (DMD). To

Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy.

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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.

Influence of age-related macular degeneration on macular thickness measurement made with fourier-domain optical coherence tomography.

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Garas, Anita; Papp, András; Holló, Gábor

2013-03-01

To evaluate the influence of age-related macular degeneration (AMD) on macular thickness measurement made with Fourier-domain optical coherence tomography (RTVue-OCT) to detect glaucoma. : One nonglaucomatous eye of 79 white persons was imaged. This comprised 25 healthy eyes, 19 eyes with early/intermediate AMD (geographic atrophy excluded), 16 eyes with subfoveal choroidal neovascularization (CNV), and 19 CNV eyes after intravitreal antiangiogenic treatment [CNV-antivascular endothelial growth factor (VEGF)]. Compared with the age-matched controls, no difference in any nerve fiber layer and optic disc parameter was seen for any AMD group. No macular retinal segmentation error was detected in the control group. Localized inner retinal image segmentation errors topographically related to AMD were detected in 8 eyes with drusen (42.1%), all 16 CNV eyes (100%) and 17 eyes in the CNV-anti-VEGF group (89.5%; χ test, P0.05). In contrast, all pattern-based ganglion cell complex (GCC) parameters were significantly higher (more abnormal) in the CNV and CNV-anti-VEGF group than in the control eyes (Mann-Whitney test, Bonferroni correction, P<0.001). For GCC focal loss volume, the only pattern-based parameter classified by the software, the frequency of "borderline" and "outside normal limits" classifications was significantly greater in each AMD group than in the control group (χ test, Bonferroni correction, P ≤0.03). In nonglaucomatous eyes, AMD significantly influences the pattern-based inner macular thickness parameters of the RTVue optical coherence tomograph and the software-provided classification of GCC focal loss volume, for detection of glaucoma.

Disease: H01890 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01890 Pattern dystrophies of the retinal pigment epithelium; Patterned macular dystrophy; Butterfly...:5442145 ... AUTHORS ... Deutman AF, van Blommestein JD, Henkes HE, Waardenburg PJ, Solleveld-van Driest E ... TITLE ... Butterfly...5 ... PMID:8485574 (gene) ... AUTHORS ... Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM ... TITLE ... Butterfly

RETINA EXPANSION TECHNIQUE FOR MACULAR HOLE APPOSITION REPORT 2: Efficacy, Closure Rate, and Risks of a Macular Detachment Technique to Close Large Full-Thickness Macular Holes.

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Wong, Roger; Howard, Catherine; Orobona, Giancarlo Dellʼaversana

2018-04-01

To describe the safety and efficacy of a technique to close large thickness macular holes. A consecutive retrospective interventional case series of 16 patients with macular holes greater than 650 microns in "aperture" diameter were included. The technique involves vitrectomy, followed by internal limiting membrane peeling. The macula is detached using subretinal injection of saline. Fluid-air exchange is performed to promote detachment and stretch of the retina. After this, the standard fluid-air exchange is performed and perfluoropropane gas is injected. Face-down posturing is advised. Adverse effects, preoperative, and postoperative visual acuities were recorded. Optical coherence tomography scans were also taken. The mean hole size was 739 microns (SD: 62 microns; mean base diameter: 1,311 microns). Eighty-three percent (14 of 16) of eyes had successful hole closure after the procedure. At 12-month follow-up, no worsening in visual acuity was reported, and improvement in visual acuity was noted in 14 of 16 eyes. No patients lost vision because of the procedure. It is possible to achieve anatomical closure of large macular holes using RETMA. No patients experienced visual loss. The level of visual improvement is likely limited because of the size and chronicity of these holes.

Posterior amorphous corneal dystrophy: case report

OpenAIRE

Oliveira, Lauro Augusto de [UNIFESP; Vieira, Luiz Antônio [UNIFESP; Freitas, Denise de [UNIFESP; Sousa, Luciene Barbosa de [UNIFESP

2006-01-01

O objetivo deste trabalho é alertar o oftalmologista da possibilidade de se deparar com casos raros de distrofias corneanas. Neste caso correlacionamos os achados clínicos da distrofia amorfa posterior com refração, topografia e biomicroscopia ultra-sônica.The purpose of this paper is to warn the ophthalmologist about the possibility of facing rare cases of corneal dystrophies. Clinical findings of a case of posterior amorphous dystrophy were correlated with refraction, topography, and ultras...

Segmentation error and macular thickness measurements obtained with spectral-domain optical coherence tomography devices in neovascular age-related macular degeneration

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Moosang Kim

2013-01-01

Full Text Available Purpose: To evaluate frequency and severity of segmentation errors of two spectral-domain optical coherence tomography (SD-OCT devices and error effect on central macular thickness (CMT measurements. Materials and Methods: Twenty-seven eyes of 25 patients with neovascular age-related macular degeneration, examined using the Cirrus HD-OCT and Spectralis HRA + OCT, were retrospectively reviewed. Macular cube 512 × 128 and 5-line raster scans were performed with the Cirrus and 512 × 25 volume scans with the Spectralis. Frequency and severity of segmentation errors were compared between scans. Results: Segmentation error frequency was 47.4% (baseline, 40.7% (1 month, 40.7% (2 months, and 48.1% (6 months for the Cirrus, and 59.3%, 62.2%, 57.8%, and 63.7%, respectively, for the Spectralis, differing significantly between devices at all examinations (P < 0.05, except at baseline. Average error score was 1.21 ± 1.65 (baseline, 0.79 ± 1.18 (1 month, 0.74 ± 1.12 (2 months, and 0.96 ± 1.11 (6 months for the Cirrus, and 1.73 ± 1.50, 1.54 ± 1.35, 1.38 ± 1.40, and 1.49 ± 1.30, respectively, for the Spectralis, differing significantly at 1 month and 2 months (P < 0.02. Automated and manual CMT measurements by the Spectralis were larger than those by the Cirrus. Conclusions: The Cirrus HD-OCT had a lower frequency and severity of segmentation error than the Spectralis HRA + OCT. SD-OCT error should be considered when evaluating retinal thickness.

Macular degeneration

Science.gov (United States)

The macula is the part of the retina that distinguishes fine details at the center of the field of vision. Macular degeneration results from a partial breakdown of the insulating layer between the retina and the choroid layer of ...

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.

Science.gov (United States)

Okkersen, Kees; Jimenez-Moreno, Cecilia; Wenninger, Stephan; Daidj, Ferroudja; Glennon, Jeffrey; Cumming, Sarah; Littleford, Roberta; Monckton, Darren G; Lochmüller, Hanns; Catt, Michael; Faber, Catharina G; Hapca, Adrian; Donnan, Peter T; Gorman, Gráinne; Bassez, Guillaume; Schoser, Benedikt; Knoop, Hans; Treweek, Shaun; van Engelen, Baziel G M

2018-06-18

Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults and leads to severe fatigue, substantial physical functional impairment, and restricted social participation. In this study, we aimed to determine whether cognitive behavioural therapy optionally combined with graded exercise compared with standard care alone improved the health status of patients with myotonic dystrophy type 1. We did a multicentre, single-blind, randomised trial, at four neuromuscular referral centres with experience in treating patients with myotonic dystrophy type 1 located in Paris (France), Munich (Germany), Nijmegen (Netherlands), and Newcastle (UK). Eligible participants were patients aged 18 years and older with a confirmed genetic diagnosis of myotonic dystrophy type 1, who were severely fatigued (ie, a score of ≥35 on the checklist-individual strength, subscale fatigue). We randomly assigned participants (1:1) to either cognitive behavioural therapy plus standard care and optional graded exercise or standard care alone. Randomisation was done via a central web-based system, stratified by study site. Cognitive behavioural therapy focused on addressing reduced patient initiative, increasing physical activity, optimising social interaction, regulating sleep-wake patterns, coping with pain, and addressing beliefs about fatigue and myotonic dystrophy type 1. Cognitive behavioural therapy was delivered over a 10-month period in 10-14 sessions. A graded exercise module could be added to cognitive behavioural therapy in Nijmegen and Newcastle. The primary outcome was the 10-month change from baseline in scores on the DM1-Activ-c scale, a measure of capacity for activity and social participation (score range 0-100). Statistical analysis of the primary outcome included all participants for whom data were available, using mixed-effects linear regression models with baseline scores as a covariate. Safety data were presented as descriptives. This trial is registered

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

DEFF Research Database (Denmark)

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

2010-01-01

PURPOSE: To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with age-related macular degeneration (AMD). METHODS: Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30...... to 66 years. Participants were genotyped for AMD-related polymorphisms in complement factor H (CFH), in LOC387715, and in complement factor B (CFB). RESULTS: The prevalence of 20 or more small, hard macular drusen per eye was 14%, with no association to the investigated polymorphisms. Peripheral drusen...... were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4-13, for CC versus TT genotypes) as was macular drusen >63 microm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 microm were associated with the presence of 20 or more small, hard...

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

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.

[Ocular findings in patients with Steinert myotonic dystrophy].

Science.gov (United States)

Markowska, Elzbieta; Zalewska, Renata; Mariak, Zofia; Wojnar, Małgorzata

2006-01-01

The authors present one of many myotonic dystrophies: Steinert myotonic dystrophy (Steinert disease), which is a disease occuring seldom, and causing a lot of problems during the diagnostic and treatment process. Genetic factors, results of the histopathology tests, main clinical symptoms, particularly ophtalmic manifestation are described in this article.

Sequestration of MBNL1 Protein by Mutant ZNF9 mRNA in Lymphocytes of Patients with Myotonic Dystrophy Type 2

Czech Academy of Sciences Publication Activity Database

Souček, O.; Voháňka, S.; Zaorálková, J.; Falková, I.; Hrabálková, R.; Falk, Martin; Lukáš, Z.

2012-01-01

Roč. 75, č. 5 (2012), s. 606-609 ISSN 1210-7859 Institutional research plan: CEZ:AV0Z50040702 Institutional support: RVO:68081707 Keywords : myotonic dystrophy * lymphocytes * MBNL1 sequestration Subject RIV: BO - Biophysics Impact factor: 0.366, year: 2012

The effects of intravitreal bevacizumab in infectious and noninfectious uveitic macular edema.

Science.gov (United States)

Al-Dhibi, Hassan; Hamade, Issam H; Al-Halafi, Ali; Barry, Maan; Chacra, Charbel Bou; Gupta, Vishali; Tabbara, Khalid F

2014-01-01

Background/Aims. To assess the effect of intravitreal bevacizumab injection (IVBI) for the treatment of macular edema due to infectious and noninfectious uveitides. Design. Retrospective interventional case series. Methods. A chart review was performed on all the patients who were diagnosed with uveitic macular edema (UME) and received 1.25 mg of IVBI at two referral centers in Riyadh, Saudi Arabia. All included patients had their visual acuity and macular thickness analyzed at baseline and at 1 and 3 months following IVBI and any sign of reactivation was noted. Results. The mean age of patients was 41 ± 16 years with a mean followup of 4 ± 1 months. Ten patients had idiopathic intermediate uveitis, 9 patients had Behcet's disease, 10 had idiopathic panuveitis, and twelve patients had presumed ocular tuberculosis uveitis. Following IVBI, the mean LogMAR visual acuity improved from 0.8 ± 0.8 at baseline to 0.4 ± 0.5 at 1 month and 0.3 ± 0.5 at 3 months (P < 0.002, at 3 months). The mean macular thickness was 430 ± 132 μm at baseline. Following IVBI macular thickness improved to 286 ± 93 μm at 1 month and to 265 ± 88 μm at 3 months of followup (P < 0.001, at 3 months). Conclusion. Bevacizumab was effective in the management of UME associated with both infectious and noninfectious uveitides. Intravitreal bevacizumab induced remission of UME with infectious uveitis and had no immunosuppressive effect against infectious agents.

The Effects of Intravitreal Bevacizumab in Infectious and Noninfectious Uveitic Macular Edema

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Hassan Al-Dhibi

2014-01-01

Full Text Available Background/Aims. To assess the effect of intravitreal bevacizumab injection (IVBI for the treatment of macular edema due to infectious and noninfectious uveitides. Design. Retrospective interventional case series. Methods. A chart review was performed on all the patients who were diagnosed with uveitic macular edema (UME and received 1.25 mg of IVBI at two referral centers in Riyadh, Saudi Arabia. All included patients had their visual acuity and macular thickness analyzed at baseline and at 1 and 3 months following IVBI and any sign of reactivation was noted. Results. The mean age of patients was 41±16 years with a mean followup of 4±1 months. Ten patients had idiopathic intermediate uveitis, 9 patients had Behcet’s disease, 10 had idiopathic panuveitis, and twelve patients had presumed ocular tuberculosis uveitis. Following IVBI, the mean LogMAR visual acuity improved from 0.8±0.8 at baseline to 0.4±0.5 at 1 month and 0.3±0.5 at 3 months (P<0.002, at 3 months. The mean macular thickness was 430±132 μm at baseline. Following IVBI macular thickness improved to 286±93 μm at 1 month and to 265±88 μm at 3 months of followup (P<0.001, at 3 months. Conclusion. Bevacizumab was effective in the management of UME associated with both infectious and noninfectious uveitides. Intravitreal bevacizumab induced remission of UME with infectious uveitis and had no immunosuppressive effect against infectious agents.

Skeletal muscle CT of lower extremities in myotonic dystrophy

International Nuclear Information System (INIS)

Takahashi, Ryosuke; Imai, Terukuni; Sadashima, Hiromichi; Matsumoto, Sadayuki; Yamamoto, Toru; Kusaka, Hirofumi; Yamasaki, Masahiro; Maya, Kiyomi; Tanabe, Masaya

1988-01-01

We evaluated the leg and thigh muscles of 4 control subjects and 10 patients with myotonic dystrophy using computed tomography. Taking previous reports about the skeletal muscle CT of myotonic dystrophy into account, we concluded that the following 5 features are characteristic of myotonic dystrophy: 1. The main change is the appearance of low-density areas in muscles; these areas reflect fat tissue. In addition, the muscle mass decreases in size. 2. The leg is more severely affected than the thigh. 3. In the thigh, although the m. quadriceps femoris, especially the vastus muscles, tends to be affected, the m. adductor longus and magnus tend to be preserved. 4. In the leg, although the m. tibialis anterior and m. triceps surae tend to be affected, the m. peroneus longus, brevis, and m. tibialis posterior tend to be preserved. 5. Compensatory hypertrophy is often observed in the m. rectus femoris, m. adductor longus, m. adductor magnus, m. peroneus longus, and m. peroneus brevis, accompanied by the involvement of their agonist muscles. (author)

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.

Visual loss related to macular subretinal fluid and cystoid macular edema in HIV-related optic neuropathy

DEFF Research Database (Denmark)

Gautier, David; Rabier, Valérie; Jallet, Ghislaine

2012-01-01

Optic nerve involvement may occur in various infectious diseases, but is rarely reported after infection by the human immunodeficiency virus (HIV). We report the atypical case of a 38-year-old patient in whom the presenting features of HIV infection were due to a bilateral optic neuropathy associ...... associated with macular subretinal fluid and cystoid macular edema, which responded well to antiretroviral therapy....

Efficacy of autologous platelets in macular hole surgery.

Science.gov (United States)

Konstantinidis, Aristeidis; Hero, Mark; Nanos, Panagiotis; Panos, Georgios D

2013-01-01

The introduction of optical coherence tomography has allowed accurate measurement of the size of macular holes. A retrospective consecutive review was performed of 21 patients undergoing macular hole repair with vitrectomy, gas tamponade, and autologous platelet injection and we assessed the effect of macular hole parameters on anatomic and functional outcomes. We looked at the demographic features, final visual outcome, and anatomical closure. Twenty-one patients were included in the study. They underwent routine vitrectomy with gas tamponade (C3F8) and injection of autologous platelets. All patients were advised to maintain a facedown posture for 2 weeks. Anatomical closure was confirmed in all cases and 20 out of 21 of patients had improved postoperative visual acuity by two or more lines. In our series, the macular hole dimensions did not have much effect on the final results. The use of autologous platelets and strict facedown posture seems to be the deciding factor in good anatomical and visual outcome irrespective of macular hole dimensions.

Case series of Stargardt's disease: Our experience

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Syed Abdul Wadud

2016-08-01

Full Text Available Stargardt disease is the most common form of juvenile macular degeneration. Clinically, it is characterized by pisciform flecks at lhe level of the retinal pigment epithelium and a bull's-eye maculopathy. Inheritance is usually autosomal recessive, although dominantly inherited case have been described. Both sexes are affected equally. We reported here three cases of Stargardt's macular dystrophy, who are siblings and daughters of non consanguineous parents. In case-1,2 and 3 we found the typical presentation with almost same findings.

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

Science.gov (United States)

Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente

2017-01-01

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

Late-onset Becker-type muscular dystrophy in a Border terrier dog.

Science.gov (United States)

Jeandel, A; Garosi, L S; Davies, L; Guo, L T; Salgüero, R; Shelton, G D

2018-01-29

A 9-year-old Border terrier was presented to a referral hospital after a 1-year history of progressive stiffness and exercise intolerance. Neurological examination was consistent with a neuromuscular disorder. Serum creatine kinase activity was mildly elevated. A myopathy was suspected based on MRI findings and electrophysiological examination. Muscle histopathology was consistent with a severe non-inflammatory myopathy of a dystrophic type. Immunofluorescence and western blotting confirmed a dystrophinopathy with an 80-kDa truncated dystrophin fragment similar to Becker muscular dystrophy in people. To our knowledge, this is the first description of a late-onset Becker-type muscular dystrophy in a dog, and the first description of a dystrophinopathy in a Border terrier. Muscular dystrophy in dogs should not be ruled out based on late onset clinical signs and only mildly elevated creatine kinase. © 2018 British Small Animal Veterinary Association.

[Vitreomacular adhesion in HD-OCT images in the age-related macular degeneration].

Science.gov (United States)

Latalska, Małgorzata; Swiech-Zubilewicz, Anna; Mackiewicz, Jerzy

2013-01-01

The aim of this study was to evaluate an incidence of the vitreomacular adhesion in patients with age-related macular degeneration. We examined 472 eyes in 241 patients (136 W/ 105 M) in age of 54-92 years (mean 62.6 years +/- 8.5) with dry or wet age-related macular degeneration using Cirrus HD-OCT (Zeiss) macular cube 512x128 program or 5-line pro-gram. Vitreomacular adhesion was observed in 139 eyes with dry age-related macular degeneration (29.4%, p=0.000*), in 101 eyes with drusen (21.4%, p=0.000*), in 38 eyes with retinal pigment epithelium alterations (8%, p=0.202), in 278 eyes with wet age-related macular degeneration (58.9%, p=0.001*), in 21 eyes with pigment epithelial detachment (4.4%, p=0.303), in 161 eyes with choroidal neovascularzation (34. 1%, p=0.031*/ and in 96 eyes with scar (20.4%, p=0.040*). Probably, vitreomacular adhesion alone is not able to induce age-related macular degeneration, but it may be associated with choroidal neovascularization development, it can contribute to exudate formation and choroidal neovascularization, it may induces or sustains a chronic low-grade inflammation in the macula region.

Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy

Energy Technology Data Exchange (ETDEWEB)

Othmane, K.B.; Speer, M.C.; Stauffer, J. [Duke Univ. Medical Center, Durham, NC (United States)] [and others

1995-09-01

Duchenne-like muscular dystrophy (DLMD) is an autosomal recessive Limb Girdle muscular dystrophy (LGMD2C) characterized by late age of onset, proximal muscle weakness leading to disability, high creatine kinase values, normal intelligence and normal dystrophin in muscle biopsy. We have shown previously that three DLMD families from Tunisia are linked to chromosome 13q12. To further localize the LGMD2C gene, we have investigated seven additional families (119 individuals). Both genotyping and two-point linkage analysis were performed as described elsewhere. 7 refs., 1 fig., 1 tab.

Autofluorescence Imaging for Diagnosis and Follow-up of Cystoid Macular Edema

Directory of Open Access Journals (Sweden)

Nazanin Ebrahimiadib

2012-01-01

Full Text Available Lipofuscin results from digestion of photoreceptor outer segments by the retinal pigment epithelium (RPE and is the principal compound that causes RPE fluorescence during autofluorescence imaging. Absorption of the 488-nanometer blue light by macular pigments, especially by the carotenoids lutein and zeaxanthin, causes normal macular hypo-autofluorescence. Fundus autofluorescence imaging is being increasingly employed in ophthalmic practice to diagnose and monitor patients with a variety of retinal disorders. In macular edema for example, areas of hyper-autofluorescence are usually present which are postulated to be due to dispersion of macular pigments by pockets of intraretinal fluid. For this reason, the masking effect of macular pigments is reduced and the natural autofluorescence of lipofuscin can be observed without interference. In cystic types of macular edema, e.g. cystoid macular edema due to retinal vein occlusion, diabetic macular edema and post cataract surgery, hyperautofluorescent regions corresponding to cystic spaces of fluid accumulation can be identified. In addition, the amount of hyper-autofluorescence seems to correspond to the severity of edema. Hence, autofluorescence imaging, as a noninvasive technique, can provide valuable information on cystoid macular edema in terms of diagnosis, followup and efficacy of treatment.

The effect of BCMO1 gene variants on macular pigment optical density in young healthy Caucasians

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Zachary eKyle-Little

2014-12-01

Full Text Available Background: Serum lutein (L and zeaxanthin (Z positively correlate with macular pigment optical density (MPOD, hence the latter is a valuable indirect tool for measuring L and Z content in the macula. L and Z have been attributed antioxidant capacity and protection from certain retinal diseases but their uptake within the eye is thought to depend on genetic, age and environmental factors. In particular gene variants within beta-carotene monooxygenase (BCMO1 are thought to modulate MPOD in the macula.Objectives: To determine the effect of BCMO1 single nucleotide polymorphisms (SNPs rs11645428, rs6420424 and rs6464851 on macular pigment optical density (MPOD in a cohort of young healthy participants of Caucasian origin with normal ocular health.Design: In this cohort study, MPOD was assessed in 46 healthy participants (22 male and 24 female with a mean age of 24 ± 4.0 years (range 19-33. The three SNPs, rs11645428, rs6420424, rs6564851 that have established associations with MPOD were determined using MassEXTEND (hME Sequenom assay. One-way analysis of variance (ANOVA was performed on groups segregated into homozygous and heterozygous BCMO1 genotypes. Correlations between body mass index (BMI, iris colour, gender, central retinal thickness (CRT, diet and MPOD were investigated.Results: MPOD did not significantly vary with BCMO1 rs11645428 (F2,41 = 0.700, p = 0.503, rs6420424 (F2,41 = 0.210, p = 0.801 nor rs6464851 homozygous or heterozygous genotypes (F2,41 = 0,13, p = 0.88, in this young healthy cohort. The combination of these three SNPs into triple genotypes based on plasma conversion efficiency did not affect MPOD (F2,41 = 0.07, p = 0.9. There was a significant negative correlation with MPOD and central retinal thickness (r = - 0.39, p = 0.01 but no significant correlation between BMI, iris colour, gender and MPOD. Conclusion: Our results indicate that macular pigment deposition within the central retina is not dependent on BCMO1 gene variant

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.

Science.gov (United States)

Fishman, G A; Stone, E M; Grover, S; Derlacki, D J; Haines, H L; Hockey, R R

1999-04-01

To report the spectrum of ophthalmic findings in patients with Stargardt dystrophy or fundus flavimaculatus who have a specific sequence variation in the ABCR gene. Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. Patients underwent a routine ocular examination, including slitlamp biomicroscopy and a dilated fundus examination. Fluorescein angiography was performed on 22 patients, and electroretinographic measurements were obtained on 24 of 29 patients. Kinetic visual fields were measured with a Goldmann perimeter in 26 patients. Single-strand conformation polymorphism analysis and DNA sequencing were used to identify variations in coding sequences of the ABCR gene. Three clinical phenotypes were observed among these 29 patients. In phenotype I, 9 of 12 patients had a sequence change in exon 42 of the ABCR gene in which the amino acid glutamic acid was substituted for glycine (Gly1961Glu). In only 4 of these 9 patients was a second possible disease-causing mutation found on the other ABCR allele. In addition to an atrophic-appearing macular lesion, phenotype I was characterized by localized perifoveal yellowish white flecks, the absence of a dark choroid, and normal electroretinographic amplitudes. Phenotype II consisted of 10 patients who showed a dark choroid and more diffuse yellowish white flecks in the fundus. None exhibited the Gly1961Glu change. Phenotype III consisted of 7 patients who showed extensive atrophic-appearing changes of the retinal pigment epithelium. Electroretinographic cone and rod amplitudes were reduced. One patient showed the Gly1961Glu change. A wide variation in clinical phenotype can occur in patients with sequence changes in the ABCR gene. In individual patients, a certain phenotype seems to be associated with the presence of

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

NARCIS (Netherlands)

Sousa, Sérgio B.; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D.; Hennekam, Raoul C. M.

2008-01-01

There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity

Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.

Science.gov (United States)

Jalili, I K

2010-11-01

To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) caused by mutations on CNNM4, a metal transporter, with linkage at achromatopsia locus 2q11 (Jalili syndrome). Three siblings aged 5, 6, and 10 years from a six-generation Arab family in Gaza City underwent full systemic, ophthalmic, and dental examinations, investigations and detailed genealogy. Subjects presented at early childhood with visual impairment and abnormal dentition together with photophobia and fine nystagmus increasing under photopic conditions, in the presence of normal fundi. Electrophysiologically, photopic flicker responses were impaired; scotopic responses were extinguished at the age of 10 years. Anterior open bite accompanied AI in all siblings. The syndrome formed 83% of CRD cases in the Gaza Strip, which has a prevalence of 1 : 10,000. On the basis of clinical features and electrophysiology, two phenotypes exist: an infancy onset form with progressive macular lesion and an early childhood onset form with normal fundi. More prevalent than previously thought, Jalili syndrome presents a model of the effect of different mutations of the same genetic defect, observations of the same phenotype at different stages of the natural history of the disease, and the influence of epigenetic and tissue-specific factors as causes of phenotypic variability. The paper calls for action to tackle consanguinity in endogamous communities, addresses the possible role of high fluoride levels in groundwater as a trigger for genetic mutations, and the use of red-tinted filter in cone disorders.

ILM peeling in nontractional diabetic macular edema: review and metanalysis.

Science.gov (United States)

Rinaldi, M; dell'Omo, R; Morescalchi, F; Semeraro, F; Gambicorti, E; Cacciatore, F; Chiosi, F; Costagliola, C

2017-10-31

To evaluate the effect of internal limiting membrane (ILM) peeling during vitrectomy for nontractional diabetic macular edema. PUBMED, MEDLINE and CENTRAL were reviewed using the following terms (or combination of terms): diabetic macular edema, nontractional diabetic macular edema, internal limiting membrane peeling, vitrectomy, Müller cells. Randomized and nonrandomized studies were included. The eligible studies compared anatomical and functional outcomes of vitrectomy with or without ILM peeling for tractional and nontractional diabetic macular edema. Postoperative best-corrected visual acuity and central macular thickness were considered, respectively, the primary and secondary outcomes. Meta-analysis on mean differences between vitrectomy with and without ILM peeling was performed using inverse variance method in random effects. Four studies with 672 patients were eligible for analysis. No significant difference was found between postoperative best-corrected visual acuity or best-corrected visual acuity change of ILM peeling group compared with nonpeeling group. There was no significant difference in postoperative central macular thickness and central macular thickness reduction between the two groups. The visual acuity outcomes in patients affected by nontractional diabetic macular edema using pars plana vitrectomy with ILM peeling versus no ILM peeling were not significantly different. A larger prospective and randomized study would be necessary.

CASE REPORT Moebius syndrome with macular hyperpigmentation ...

African Journals Online (AJOL)

Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle. KEYWORDS Moebius syndrome; Macular hyperpigmentation; Pectoralis major muscle; Cranial nerves; ...

Bilateral Simultaneous Macular Infarction with Spontaneous Visual ...

African Journals Online (AJOL)

2018-01-30

Jan 30, 2018 ... eyes and near acuity was; right eye: N24, left eye: N36. ... Keywords: Macular infarction, macular ischemia, sickle cell, visual loss ... and build upon the work non-commercially, as long as the author is credited and the new.

[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.

Frequency of vitreo macular traction in diabetic macular edema on optical coherence tomography

International Nuclear Information System (INIS)

Fatima, N.; Islam, Q.U.; Shafique, M.

2017-01-01

To determine the frequency of vitreo macular traction (VMT) in patients of diabetic macular edema (DME) as detected on spectral domain optical coherence tomography (SD-OCT). Study Design: Cross-sectional study. Place and Duration of Study: Armed Forces Institute of Ophthalmology (AFIO) Rawalpindi, from May 2013 to Jan 2014. Patients and Methods: Diabetic patients of less than 18 years of age with DME and central macular thickness of more than 250 micrometers (micro m) were included. The patients with idiopathic VMT, history of vitreoretinal surgery, and history of other retinal vascular diseases were excluded from the study. Dilated fundus was done in each patient using 90 D lens on a slit lamp biomicroscope and patients with diabetic retinopathy changes and DME were subjected to OCT examination using Topcon 3-D OCT 1000 (Topcon Corporation). Record of each patient including demographic data, ocular findings and OCT data were endorsed on a pre-devised proforma. Results: Seventy one eyes of 68 patients were included, 36 (50.7 percent) were males and 35 (49.29 percent) were females. Mean age was 53.17 +- 8.79 years. Mean central macular thickness (CMT) was 361.8 +- 109 mu m. VMT was detected in 17 (23.9 percent) eyes. Amongst these, 2(12.5 percent) eyes had vitreofoveal traction, epiretinal membrane was found in 4 (25 percent) eyes and 11(62.5 percent) eyes had extra foveal VMT. Conclusion: Detection of VMT in about a quarter of cases reflects that OCT is a viable tool for early detection of vitreomacular interface abnormalities. (author)

Regulatory T cells suppress muscle inflammation and injury in muscular dystrophy

Science.gov (United States)

Villalta, S. Armando; Rosenthal, Wendy; Martinez, Leonel; Kaur, Amanjot; Sparwasser, Tim; Tidball, James G.; Margeta, Marta; Spencer, Melissa J.; Bluestone, Jeffrey A.

2016-01-01

We examined the hypothesis that regulatory T cells (Tregs) modulate muscle injury and inflammation in the mdx mouse model of Duchenne muscular dystrophy (DMD). Although Tregs were largely absent in the muscle of wildtype mice and normal human muscle, they were present in necrotic lesions, displayed an activated phenotype and showed increased expression of interleukin (IL)-10 in dystrophic muscle from mdx mice. Depletion of Tregs exacerbated muscle injury and the severity of muscle inflammation, which was characterized by an enhanced interferon-gamma (IFNγ) response and activation of M1 macrophages. To test the therapeutic value of targeting Tregs in muscular dystrophy, we treated mdx mice with IL-2/anti-IL-2 complexes (IL-2c), and found that Tregs and IL-10 concentrations were increased in muscle, resulting in reduced expression of cyclooygenase-2 and decreased myofiber injury. These findings suggest that Tregs modulate the progression of muscular dystrophy by suppressing type 1 inflammation in muscle associated with muscle fiber injury, and highlight the potential of Treg-modulating agents as therapeutics for DMD. PMID:25320234

One-year progression of diabetic subclinical macular edema in eyes with mild nonproliferative diabetic retinopathy

DEFF Research Database (Denmark)

Tejerina, Amparo Navea; Vujosevic, Stela; Varano, Monica

2015-01-01

PURPOSE: To characterize the 1-year progression of retinal thickness (RT) increase occurring in eyes with subclinical macular edema in type 2 diabetes. METHODS: Forty-eight type 2 diabetic eyes/patients with mild nonproliferative diabetic retinopathy (NPDR; levels 20 and 35 in the Early Treatment...... Diabetic Retinopathy Study) classified as presenting subclinical macular edema at baseline completed the 1-year follow-up period, from a sample of 194 followed in a 12-month observational and prospective study (ClinicalTrials.gov identifier: NCT01145599). Automated segmentation of the retinal layers...... in these eyes was performed, followed by verification and correction by a human grader. RESULTS: The highest increase in RT over the 1-year follow-up period for the 48 eyes/patients with subclinical macular edema was found in the inner nuclear layer (INL). Progression to clinical macular edema was also...

Interventions for the treatment of uveitic macular edema: a systematic review and meta-analysis

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Karim R

2013-06-01

Full Text Available Rushmia Karim,1 Evripidis Sykakis,2 Susan Lightman,3 Samantha Fraser-Bell4 1Faculty of Medicine, University of Sydney, Camperdown, NSW, Australia; 2Department of Ophthalmology, Whipps Cross University Hospital, 3UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK; 4University of Sydney, Clinical Ophthalmology and Eye Health, Sydney Adventist Hospital Clinical School, Sydney, NSW, Australia Background: Uveitic macular edema is the major cause of reduced vision in eyes with uveitis. Objectives: To assess the effectiveness of interventions in the treatment of uveitic macular edema. Search strategy: Cochrane Central Register of Controlled Trials, Medline, and Embase. There were no language or data restrictions in the search for trials. The databases were last searched on December 1, 2011. Reference lists of included trials were searched. Archives of Ophthalmology, Ophthalmology, Retina, the British Journal of Ophthalmology, and the New England Journal of Medicine were searched for clinical trials and reviews. Selection criteria: Participants of any age and sex with any type of uveitic macular edema were included. Early, chronic, refractory, or secondary uveitic macular edema were included. We included trials that compared any interventions of any dose and duration, including comparison with another treatment, sham treatment, or no treatment. Data collection and analysis: Best-corrected visual acuity and central macular thickness were the primary outcome measures. Secondary outcome data including adverse effects were collected. Conclusion: More results from randomized controlled trials with long follow-up periods are needed for interventions for uveitic macular edema to assist in determining the overall long-term benefit of different treatments. The only intervention with sufficiently robust randomized controlled trials for a meta-analysis was acetazolamide, which was shown to be ineffective in improving vision in eyes with uveitic

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.

Macular hole: 10 and 20-MHz ultrasound and spectral-domain optical coherence tomography

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Juliana Mantovani Bottós

2012-12-01

Full Text Available PURPOSE: Optical coherence tomography (OCT is valuable for macula evaluation. However, as this technique relies on light energy it cannot be performed in the presence of opaque media. In such cases, the ultrasound (US may predict some macular features. The aim of this study was to characterize images obtained by ultrasound with 10 and 20-MHz transducers comparing to OCT, as well as to analyze the relationship between the vitreous and retina in eyes with macular hole (MH. METHODS: 29 eyes of 22 patients with biomicroscopic evidence of MH at different stages were included. All patients were evaluated using ultrasonography with 10 and 20-MHz transducers and OCT. RESULTS: OCT identified signs of MH in 25 of 29 eyes. The remaining 4 cases not identified by US were pseudoholes caused by epiretinal membranes. In MH stages I (2 eyes and II (1 eye, both transducers were not useful to analyze the macular thickening, but suggestive findings as macular irregularity, operculum or partial posterior vitreous detachment (PVD were highlighted. In stages III (14 eyes and IV (5 eyes, both transducers identified the double hump irregularity and thickening. US could measure the macular thickness and other suggestive findings for MH: operculum, vitreomacular traction and partial or complete PVD. In cases of pseudoholes, US identified irregularities macular contour and a discrete depression. CONCLUSION: 10-MHz US was useful for an overall assessment of the vitreous body as well as its relationship to the retina. The 20-MHz transducer allowed valuable information on the vitreomacular interface and macular contour. OCT provides superior quality for fine morphological study of macular area, except in cases of opaque media. In these cases, and even if OCT is not available, the combined US study is able to provide a valid evaluation of the macular area improving therapeutic approach.

An experimental study of BIGH3 gene mutations in the patients with corneal dystrophies

International Nuclear Information System (INIS)

Jin Tao; Zou Liuhe; Yang Ling

2004-01-01

Objective: To evaluate BIGH3 gene mutations in Chinese patents with corneal dystrophies. Methods: 2ml peripheral venous blood was collected from 15 patients with granular corneal dystrophies and 5 normal subjects. Leucocytes DNA was extracted with standard method. With two pairs of oligonucleotide primers, exon 4 and exon 12 of the BIGH3 gene were amplified using the polymerase chain reaction. Amplified DNA fragments were purified and sequenced directly. Results: Mutations in BIGH3 gene were detected in all the patients with corneal dystrophies. BIGH3 gene mutations were not found in normal subjects. 12 patients with Avellino corneal dystrophy had the missense mutation R124H in the BIGH3 gene. 3 patients with granular corneal dystrophy had the missense mutation R555W in the BIGH3 gene. Conclusion: R124H and R555W mutations in BIGH3 gene were also found in the Chinese patients with Avellino and granular corneal dystrophies. In China, Avellino corneal dystrophy associated with the R124H mutation is the most common form in the corneal dystrophies resulted by BIGH3 gene mutions. Condon 124 and 555 are also the hot spots for the mutations in the BIGH3 gene in the Chinese patients with corneal dystrophies. Molecular genetic analysis may be repuired for proper diagnosis and subclassification of corneal dystrophies. (authors)

Functioning and disability in adults with myotonic dystrophy type 1.

Science.gov (United States)

Kierkegaard, Marie; Harms-Ringdahl, Karin; Holmqvist, Lotta Widén; Tollbäck, Anna

2011-01-01

 To provide a comprehensive description of functioning and disability with regard to stages of disease progression in adults with myotonic dystrophy type 1 (DM1). Further to explore associations of measures of manual dexterity and of walking capacity with measures of activities of daily living (ADL) and participation in social and lifestyle activities. Seventy persons with DM1 underwent examinations, tests and answered questionnaires. Stages of disease progression were based on the muscular impairment rating scale.  Overweight, cardiac dysfunctions, respiratory restrictions, fatigue and/or low physical activity levels were found in approximately 40% of those with DM1. Over 75% had muscle impairments, and activity limitations in manual dexterity and walking. Dependence in personal and instrumental ADL was found in 16% and 39%, respectively, and participation restrictions in social and lifestyle activities in 52%. The presence of concurrent body-function impairments, activity limitations and participation restrictions was high. Significant differences were found in muscle impairment, manual dexterity, mobility, ADL and social and lifestyle activities with regard to disease progression. Cut-off values in measures of manual dexterity and walking capacity associated to functioning are proposed.  This information can be used for developing clinical practise and for health promotion for persons with DM1.

Upper limb function in adults with Duchenne muscular dystrophy

NARCIS (Netherlands)

B. Bartels (Bart); R.F. Pangalila (Robert); M.P. Bergen (Michael); N.A.M. Cobben (Nicolle); H.J. Stam (Henk); M.E. Roebroeck (Marij)

2011-01-01

textabstractTo determine upper limb function and associated factors in adults with Duchenne muscular dystrophy. Design: Cross-sectional study. Subjects: A sample of 70 men with Duchenne muscular dystrophy (age range 20-43 years). Methods: General motor function and, in particular, upper limb distal

Netrin-1 - DCC Signaling Systems and Age-Related Macular Degeneration.

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John Paul SanGiovanni

Full Text Available We conducted a nested candidate gene study and pathway-based enrichment analysis on data from a multi-national 77,000-person project on the molecular genetics of age-related macular degeneration (AMD to identify AMD-associated DNA-sequence variants in genes encoding constituents of a netrin-1 (NTN1-based signaling pathway that converges on DNA-binding transcription complexes through a 3'-5'-cyclic adenosine monophosphate-calcineurin (cAMP-CN-dependent axis. AMD-associated single nucleotide polymorphisms (SNPs existed in 9 linkage disequilibrium-independent genomic regions; these included loci overlapping NTN1 (rs9899630, P ≤ 9.48 x 10(-5, DCC (Deleted in Colorectal Cancer--the gene encoding a primary NTN1 receptor (rs8097127, P ≤ 3.03 x 10(-5, and 6 other netrin-related genes. Analysis of the NTN1-DCC pathway with exact methods demonstrated robust enrichment with AMD-associated SNPs (corrected P-value = 0.038, supporting the idea that processes driven by NTN1-DCC signaling systems operate in advanced AMD. The NTN1-DCC pathway contains targets of FDA-approved drugs and may offer promise for guiding applied clinical research on preventive and therapeutic interventions for AMD.

LAST II: Differential temporal responses of macular pigment optical density in patients with atrophic age-related macular degeneration to dietary supplementation with xanthophylls.

Science.gov (United States)

Richer, Stuart; Devenport, Jenny; Lang, John C

2007-05-01

Age-related macular degeneration (ARMD) is the leading cause of vision loss in aging Western societies. The objective of the Lutein Antioxidant Supplementation Trial (LAST) was to determine whether specific dietary interventions increased macular pigment optical density (MPOD) and visual function in patients with atrophic ARMD. The current objective of LAST II is to discern those specific characteristics that increase MPOD, i.e., that might differentiate a responder from a nonresponder. The LAST study was a prospective, 12-month, randomized, double-masked, placebo-controlled trial conducted at an urban midwestern Veterans Administation Hospital from August 1999 to May 2001. Ninety patients with atrophic ARMD entered the study and were assigned randomly to 1 of 3 groups. Patients in group 1 received 10 mg lutein; in group 2, 10 mg lutein in combination with vitamins, minerals, and antioxidants; and in group 3, maltodextrin placebo. Changes in macular MPOD over time were evaluated. Characteristics potentially influencing MPOD included age, weight (body mass index), initial baseline values of macular pigment, and combining xanthophylls with other nutrients. MPOD increased with supplementation and declined slightly without supplementation (regression slopes not equal to zero in supplemented groups, P < 0.02). The highest increases in MPOD over time occurred in patients with lower baseline values of MPOD. Statistically significant increases in MPOD density were observed in the lutein group for patients with baseline MPOD

Relationship between macular thickness measurement and signal strength using Stratus optical coherence tomography

OpenAIRE

Segal, Ori; Shapira, Yinon; Gershoni, Assaf; Vainer, Igor; Nemet, Arie Y; Geffen, Noa; Mimouni, Michael

2016-01-01

Ori Segal,1 Yinon Shapira,2 Assaf Gershoni,1 Igor Vainer,2 Arie Y Nemet,1 Noa Geffen,1 Michael Mimouni2 1Department of Ophthalmology, Meir Medical Center, Kfar Saba, Israel and the Sackler School of Medicine, Tel Aviv University, Tel Aviv, 2Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel Purpose: To examine the relationship between signal strength and macular thickness as measured by Stratus optical coherence tomography (OCT)’s fast macular thickness protocol...

Spectral domain OCT versus time domain OCT in the evaluation of macular features related to wet age-related macular degeneration

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Isola V

2012-02-01

Full Text Available Luisa Pierro1, Elena Zampedri1, Paolo Milani2, Marco Gagliardi1, Vincenzo Isola2, Alfredo Pece21Department of Ophthalmology, University Vita-Salute, Scientific Institute San Raffaele, Milano, Italy, 2Fondazione Retina 3000, Milano, ItalyBackground: The aim of this study was to compare the agreement between spectral domain optical coherence tomography (SD OCT and time domain stratus OCT (TD OCT in evaluating macular morphology alterations in wet age-related macular degeneration (AMD.Methods: This retrospective study was performed on 77 eyes of 77 patients with primary or recurring subfoveal choroidal neovascularization secondary to AMD. All patients underwent OCT examination using Zeiss Stratus OCT 3 (Carl Zeiss Meditec Inc, Dublin, CA and Opko OTI Spectral SLO/OCT (Ophthalmic Technologies Inc, Toronto, Canada. In all radial line scans, the presence of intraretinal edema (IRE, serous pigment epithelium detachment (sPED, neurosensory serous retinal detachment (NSRD, epiretinal membrane (EM, inner limiting membrane thickening (ILMT, and hard exudates (HE were evaluated. The degree of matching was quantified by Kappa measure of agreement.Results: The percentage distribution of TD OCT findings versus SD OCT findings was: IRE 36.3% versus 77.9%, sPED 57.1% versus 85.7%, NSRD 38.9% versus 53.2%, EM 10.5% versus 26.3%, ILMT 3.8% versus 32.4%, and HE 6.4% versus 54.5%. The agreement was as follows: sPED: kappa value 0.15; NSRD: kappa value 0.61; IRE: kappa value 0.18; EM: kappa value 0.41; ILMT: kappa value 0.02; HE: kappa value 0.06.Conclusion: The agreement in the evaluation of macular lesions between the two techniques is poor and depends on the lesion considered. SD OCT allows better detection of the alterations typically related to choroidal neovascularization such as IRE, PED, ILM thickening, and HE. Consequently its use should be strongly considered in patients with wet AMD.Keywords: spectral domain, OCT, time domain, macular degeneration, AMD

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles.

Science.gov (United States)

Caron, Leslie; Kher, Devaki; Lee, Kian Leong; McKernan, Robert; Dumevska, Biljana; Hidalgo, Alejandro; Li, Jia; Yang, Henry; Main, Heather; Ferri, Giulia; Petek, Lisa M; Poellinger, Lorenz; Miller, Daniel G; Gabellini, Davide; Schmidt, Uli

2016-09-01

: Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need arising from the progressive weakness and atrophy of skeletal muscles. The dearth of adequate experimental models has severely hampered our understanding of the disease. To date, no treatment is available for FSHD. Human embryonic stem cells (hESCs) potentially represent a renewable source of skeletal muscle cells (SkMCs) and provide an alternative to invasive patient biopsies. We developed a scalable monolayer system to differentiate hESCs into mature SkMCs within 26 days, without cell sorting or genetic manipulation. Here we show that SkMCs derived from FSHD1-affected hESC lines exclusively express the FSHD pathogenic marker double homeobox 4 and exhibit some of the defects reported in FSHD. FSHD1 myotubes are thinner when compared with unaffected and Becker muscular dystrophy myotubes, and differentially regulate genes involved in cell cycle control, oxidative stress response, and cell adhesion. This cellular model will be a powerful tool for studying FSHD and will ultimately assist in the development of effective treatments for muscular dystrophies. This work describes an efficient and highly scalable monolayer system to differentiate human pluripotent stem cells (hPSCs) into skeletal muscle cells (SkMCs) and demonstrates disease-specific phenotypes in SkMCs derived from both embryonic and induced hPSCs affected with facioscapulohumeral muscular dystrophy. This study represents the first human stem cell-based cellular model for a muscular dystrophy that is suitable for high-throughput screening and drug development. ©AlphaMed Press.

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations.

Science.gov (United States)

Rosenberg, T; Haim, M; Hauch, A M; Parving, A

1997-05-01

The study was undertaken to procure population-based prevalence data on the various types of Usher syndrome and other retinal dystrophy-hearing impairment associations. The medical files on 646 patients with a panretinal pigmentary dystrophy aged 20-49 years derived from the Danish Retinitis Pigmentosa (RP) register were scrutinised. The data were supplemented by a prior investigation on hearing ability in a part of the study population. After exclusion of patients with possibly extrinsic causes of hearing impairments, 118 patients, including 89 cases of Usher syndrome were allocated to one of five clinically defined groups. We calculated the following prevalence rates: Usher syndrome type I: 1.5/100,000, Usher syndrome type II: 2.2/100,000, and Usher syndrome type III: 0.1/100,000 corresponding to a 2:3 ratio between Usher syndrome type I and II. The overall prevalence rate of Usher syndrome was estimated to 5/100,000 in the Danish population, devoid of genetic isolates. The material comprised 11 cases with retinal dystrophy, hearing impairment, and additional syndromic features. Finally, 18 subjects with various retinal dystrophy-hearing impairment associations without syndromic features were identified, corresponding to a prevalence rate of 0.8/100,000. This group had a significant overrepresentation of X-linked RP, including two persons harboring a mutation in the retinitis pigmentosa GTP-ase regulator (RPGR) gene.

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease

OpenAIRE

Abed, Edoardo; Placidi, Giorgio; Calandriello, Luigi; Piccardi, Marco; Campagna, Francesca; Bertelli, Matteo; Minnella, Angelo Maria; Savastano, Maria Cristina; Falsini, Benedetto

2017-01-01

Stargardt disease (STGD1) is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment epithelium. The aim of this study was to evaluate the relationship between cone photoreceptor function and structure in STGD1. Macular function was assessed by visual acuity measurement and focal electroretinogram (FERG) recording while spectral doma...

Clinical study of Conbercept intravitreal injection for the treatment of wet age-related macular degeneration

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Xu-Ting He

2015-09-01

Full Text Available AIM: To observe the clinical curative effect of conbercept intravitreal injection for the treatment of wet age-related macular degeneration.METHODS: Sixty patients with wet age related macular degeneration were randomly divided into treatment group 30 cases and control group 30 cases according to the random number table. The treatment group was injected with Conbercept 0.05mL, the control group was injected with triamcinolone acetonide 0.1mL. The best corrected visual acuity(BCVAwas performed before and after 1d, 1 and 3mo after treatment, and the thickness of macular was detected by optical coherence tomography(OCT. The complications of patients were observed after 1d, 1 and 3mo,including inflammatory reaction, corneal edema, anterior chamber, high intraocular pressure, etc.RESULTS:In treatment group 1d, 1 and 3mo after treatment, eyesight was improved significantly better than the control group(PPCONCLUSION: Intravitreal injection of Conbercept in the treatment of wet age-related macular degeneration can improve the curative effect.

Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient.

Science.gov (United States)

Alliod, Barbara A; Ash, Rebecca A

2016-12-01

More patients suffering with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are presenting to perianesthesia settings for emergent and nonemergent treatment and care. A group of collaborative health care providers at Rush University Medical Center in Chicago developed a multidisciplinary DMD/BMD Task Force to study this disorder and create a set of guidelines to aid those engaging in the planning, execution of care, and recovery of this unique population in the perianesthesia setting. Attention to detail, well-executed preplanning, meticulous awareness of the patient, and prearranged implementation and intervention has proven to offset potential problems and complications and is the key to a successful perianesthesia period. Copyright © 2016 American Society of PeriAnesthesia Nurses. Published by Elsevier Inc. All rights reserved.

Macular retinoschisis in eyes with glaucomatous optic neuropathy: Vitrectomy and natural course.

Science.gov (United States)

Yoshikawa, Tadanobu; Yamanaka, Chihiro; Kinoshita, Takamasa; Morikawa, Shohei; Ogata, Nahoko

2018-02-01

Our purpose was to determine the effectiveness of vitrectomy in resolving the macular retinoschisis in an eye with glaucomatous optic neuropathy and also to determine the natural course of macular retinoschisis. This was a retrospective case series of patients who were diagnosed with macular retinoschisis and glaucomatous optic neuropathy. Fourteen eyes of 13 patients were studied. Patients with high myopia, vitreomacular traction syndrome, and the pit macular syndrome were excluded. There were three men and ten women, and 12 had unilateral and one had bilateral macular retinoschisis. Vitrectomy was performed for a serous retinal detachment, macular hole, or severe visual loss in five eyes. The mean follow-up time was 68.8 months in these five eyes, and the macular retinoschisis was resolved and the best-corrected visual acuity (BCVA) at the final visit was significantly improved in all eyes (P = 0.007). However, two of these fiv e eyes developed a macular hole and required a second vitrectomy. Of the nine eyes without treatment with a mean follow-up time of 29.0 months, the BCVA at the final visit remained unchanged from the baseline BCVA in all eyes. The macular retinoschisis was resolved or reduced in three eyes without treatment. Vitrectomy was effective for the resolution of macular retinoschisis in eyes with glaucomatous optic neuropathy and serous retinal detachment or macular hole or severe reduction of the BCVA. Macular retinoschisis can be resolved without a reduction of the BCVA in some cases without treatment.

Complementary and alternative medicine for Duchenne and Becker muscular dystrophies: characteristics of users and caregivers.

Science.gov (United States)

Zhu, Yong; Romitti, Paul A; Conway, Kristin M; Andrews, Jennifer; Liu, Ke; Meaney, F John; Street, Natalie; Puzhankara, Soman; Druschel, Charlotte M; Matthews, Dennis J

2014-07-01

Complementary and alternative medicine is frequently used in the management of chronic pediatric diseases, but little is known about its use by those with Duchenne or Becker muscular dystrophy. Complementary and alternative medicine use by male patients with Duchenne or Becker muscular dystrophy and associations with characteristics of male patients and their caregivers were examined through interviews with 362 primary caregivers identified from the Muscular Dystrophy Surveillance, Tracking, and Research Network. Overall, 272 of the 362 (75.1%) primary caregivers reported that they had used any complementary and alternative medicine for the oldest Muscular Dystrophy Surveillance, Tracking, and Research Network male in their family. The most commonly reported therapies were from the mind-body medicine domain (61.0%) followed by those from the biologically based practice (39.2%), manipulative and body-based practice (29.3%), and whole medical system (6.9%) domains. Aquatherapy, prayer and/or blessing, special diet, and massage were the most frequently used therapies. Compared with nonusers, male patients who used any therapy were more likely to have an early onset of symptoms and use a wheel chair; their caregivers were more likely to be non-Hispanic white. Among domains, associations were observed with caregiver education and family income (mind-body medicines [excluding prayer and/or blessing only] and whole medical systems) and Muscular Dystrophy Surveillance, Tracking, and Research Network site (biologically based practices and mind-body medicines [excluding prayer and/or blessing only]). Complementary and alternative medicine use was common in the management of Duchenne and Becker muscular dystrophies among Muscular Dystrophy Surveillance, Tracking, and Research Network males. This widespread use suggests further study to evaluate the efficacy of integrating complementary and alternative medicine into treatment regimens for Duchenne and Becker muscular

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.

Duchenne muscular dystrophy: the management of scoliosis

Science.gov (United States)

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

2016-01-01

This study summaries the current management of scoliosis in patients with Duchenne Muscular Dystrophy. A literature review of Medline was performed and the collected articles critically appraised. This literature is discussed to give an overview of the current management of scoliosis within Duchenne Muscular Dystrophy. Importantly, improvements in respiratory care, the use of steroids and improving surgical techniques have allowed patients to maintain quality of life and improved life expectancy in this patient group. PMID:27757431

Macular and peripapillary retinal nerve fiber layer thickness in children with hyperopic anisometropic amblyopia

Directory of Open Access Journals (Sweden)

Shuang-Qing Wu

2013-02-01

Full Text Available AIM:To compare the retinal nerve fiber layer (RNFL thickness and macular thickness in the amblyopic eye with that in the sound eye of children with hyperopic anisometropic amblyopia using optical coherence tomography (OCT.METHODS: A prospective, nonrandom, intraindividual comparative cohort study includes 72 children with hyperopic anisometropic amblyopia in a single center. Macular thickness, macular foveola thickness, and peripapillary RNFL thickness were compared between the amblyopia eyes and the contralateral sound eyes.RESULTS:There were 38 male and 34 female patients, with a mean age as 9.7±1.9 years (range, 5–16 years. Hyperopic was +3.62±1.16D (range +2.00D to +6.50D in the amblyopic eyes, which was significantly higher in the control eyes with +0.76±0.90D (range 0D to +2.00D (P P = 0.02. The mean macular foveola thickness was significantly thicker in the amblyopic eyes than the contralateral sound eyes (181.4±14.2µm vs 175.2±13.3µm, P CONCLUSION:Eyes with hyperopic anisometropic amblyopia are found thicker macular foveola and peripapillary RNFL than the contralateral eyes in children.

CLINICAL AND ELECTROPHYSIOLOGICAL EVALUATION AFTER INTRAVITREAL ZIV-AFLIBERCEPT FOR EXUDATIVE AGE-RELATED MACULAR DEGENERATION.

Science.gov (United States)

de Oliveira Dias, João Rafael; de Andrade, Gabriel Costa; Kniggendorf, Vinicius Ferreira; Novais, Eduardo Amorim; Maia, André; Meyer, Carsten; Watanabe, Sung Eun Song; Farah, Michel Eid; Rodrigues, Eduardo Büchele

2017-08-01

To evaluate the 6-month safety and efficacy of ziv-aflibercept intravitreal injections for treating exudative age-related macular degeneration. Fifteen patients with unilateral exudative age-related macular degeneration were enrolled. The best-corrected visual acuity was measured and spectral domain optical coherence tomography was performed at baseline and monthly. Full-field electroretinography and multifocal electroretinography were obtained at baseline and 4, 13, and 26 weeks after the first injection. All patients received three monthly intravitreal injections of ziv-aflibercept (1.25 mg) followed by as-needed treatment. Between baseline and 26 weeks, the mean logMAR best-corrected visual acuity improved (P = 0.00408) from 0.93 ± 0.4 (20/200) to 0.82 ± 0.5 (20/160) logarithm of the minimum angle of resolution, respectively; the central retinal thickness decreased significantly (P = 0.0007) from 490.3 ± 155.1 microns to 327.9 ± 101.5 microns; the mean total macular volume decreased significantly (P macular responses within the first central 15° showed significantly (P macular volume from baseline to 26 weeks. No retinal toxicity on full-field electroretinography or adverse events occurred during the follow-up period.

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....... Smoking is probably also a risk factor. Preventive strategies using macular laser photocoagulation are under investigation, but their efficacy in preventing visual loss is as yet unproven. There is no treatment with proven efficacy for geographic atrophy. Optimal treatment for exudative AMD requires...

Preliminary diffusion tensor imaging studies in limb-girdle muscular dystrophies

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Hidalgo-Tobon, S.; Hernandez-Salazar, G.; Vargas-Cañas, S.; Marrufo-Melendez, O.; Solis-Najera, S.; Taboada-Barajas, J.; Rodriguez, A. O.; Delgado-Hernandez, R.

2012-10-01

Limb-girdle muscular dystrophies (LGMD) are a group of autosomal dominantly or recessively inherited muscular dystrophies that also present with primary proximal (limb-girdle) muscle weakness. This type of dystrophy involves the shoulder and pelvic girdles, distinct phenotypic or clinical characteristics are recognized. Imaging experiments were conducted on a 1.5T GE scanner (General Electric Medical Systems. Milwaukee. USA), using a combination of two eight-channel coil array. Diffusion Tensor Imaging (DTI) data were acquired using a SE-EPI sequence, diffusion weighted gradients were applied along 30 non-collinear directions with a b-value=550 s/mm2. The connective tissue content does not appear to have a significant effect on the directionality of the diffusion, as assessed by fractional anisotropy. The fibers of the Sartorius muscle and gracilis showed decreased number of tracts, secondary to fatty infiltration and replacement of connective tissue and muscle mass loss characteristic of the underlying pathology. Our results demonstrated the utility of non-invasive MRI techniques to characterize the muscle pathology, through quantitative and qualitative methods such as the FA values and tractrography.

Fracture in Duchenne Muscular Dystrophy: Natural History and Vitamin D Deficiency.

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Perera, Nadia; Sampaio, Hugo; Woodhead, Helen; Farrar, Michelle

2016-08-01

The present study examined the natural history of fracture and vitamin D levels in Duchenne muscular dystrophy patients, who are vulnerable to osteoporosis and fractures. Retrospective analysis of a cohort of 48 Duchenne muscular dystrophy patients revealed that 43% of patients experienced ≥1 fracture. Fracture probabilities at ages 6, 9, 12, and 15 years were 4%, 9%, 31%, and 60% respectively, accelerating around the time of ambulation loss (mean age 11.8 ± 2.7 years). Chronic corticosteroid therapy was utilized in 69% of patients and was associated with all vertebral fractures. A history of vitamin D deficiency occurred in 84%, and 35% were currently deficient. Despite chronic vitamin D supplementation, 38% remained deficient. These results demonstrate that osteoporosis and fracture remain major concerns in Duchenne muscular dystrophy. Bone health should be optimized well before loss of ambulation, however current levels of vitamin D supplementation may be inadequate given high levels of deficiency. © The Author(s) 2016.

Comparison and interchangeability of macular thickness measured with Cirrus OCT and Stratus OCT in myopic eyes

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Geng Wang

2015-12-01

Full Text Available AIM: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Management of macular epiretinal membrane by vitrectomy and intravitreal triamcinolone.

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Shukla, Dhananjay

2014-04-01

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

Uso de triamcinolona intravítrea en edema macular del diabético Intravitreal triamcinolone to treat diabetic macular edema

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Meysi Ramos López

2007-12-01

Full Text Available Se estima que en el mundo hay 120 millones de diabéticos y que cada 15 años el número de estos se duplica. Algunos datos son descriptivos y reflejan la situación actual: en los países avanzados solo 30 % de los diabéticos tipo I están adecuadamente controlados y 7 % de los tipo 2 con características de alto riesgo no han sido revisados nunca por ningún oftalmólogo. La prevalencia de la retinopatía diabética está determinada por el tipo de diabetes mellitus y por la edad del paciente, disminuye según aumenta la edad. La retinopatía diabética más frecuente es la no proliferativa en un 80 %, contra un 20 %, la proliferativa. La diabetes mellitus en Cuba tiene una prevalencia aproximadamente de 1/10 000. Estudios recientes revelan una prevalencia de la retinopatía diabética de alrededor de 20-25 % entre los pacientes diabéticos. La detección temprana de la retinopatía, el edema macular, y el tratamiento precoz son cruciales en el esfuerzo por reducir la incapacidad visual presentada en los pacientes con diabetes. En este trabajo se evalúa la efectividad de la triamcinolona intravítrea como tratamiento general antiangiogénico y antiinflamatorio del edema macular en un grupo de pacientes diabéticos que fueron atendidos en el Instituto Cubano Oftalmológico "Ramón Pando Ferrer, desde enero hasta julio de 2006. Se realizó un estudio descriptivo-prospectivo de caso control, en el cual, el paciente constituyó su propio control. La muestra estuvo formada por 30 pacientes diabéticos, con diagnóstico de edema macular diabético que fueron candidatos a la aplicación del medicamento. Predominó el sexo femenino con más de 6 años de edad, a pesar que se mejora la agudeza visual, esta no se correspondía con la disminución evidente del edema macular. Los pacientes que no tuvieron tratamiento láser previo, respondieron mejor al medicamento aplicado, como complicaciones postratamiento se presentó hipertensión ocular, involuci

Effects of Vitrectomy on Recurrent Macular Edema due to Branch Retinal Vein Occlusion after Intravitreal Injection of Bevacizumab

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Tatsuya Yunoki

2013-01-01

Full Text Available Purpose. To evaluate the effects of pars plana vitrectomy (PPV on recurrent macular edema due to branch retinal vein occlusion (BRVO after intravitreal injections of bevacizumab (IVB. Methods. This retrospective study included 22 eyes of 22 patients who underwent single or multiple IVB injections for macular edema due to BRVO and showed a recurrence of macular edema. All patients then underwent PPV and were followed up for more than 6 months after the surgery with examinations of best corrected visual acuity (BCVA and optical coherence tomography (OCT. OCT parameters were central macular thickness (CMT and average retinal thickness in a 1-mm-diameter circular region at the fovea (MRT. Results. Mean BCVA, CRT, and MRT were significantly improved from the baseline after PPV. Greater improvement of BCVA, CRT, and MRT was obtained after 1 month of IVB than after 6 months of PPV. No eyes showed worsening of macular edema after the surgery. Conclusion. PPV improved BCVA and recurrent macular edema due to BRVO, but PPV that was less effective than IVB had been in the same patients. PPV may be one of the treatment options for recurrent macular edema due to BRVO after IVB.

MR imaging of fukuyama congenital muscular dystrophy; a case report

International Nuclear Information System (INIS)

Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk

2000-01-01

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

Translating golden retriever muscular dystrophy microarray findings to novel biomarkers for cardiac/skeletal muscle function in Duchenne muscular dystrophy.

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Galindo, Cristi L; Soslow, Jonathan H; Brinkmeyer-Langford, Candice L; Gupte, Manisha; Smith, Holly M; Sengsayadeth, Seng; Sawyer, Douglas B; Benson, D Woodrow; Kornegay, Joe N; Markham, Larry W

2016-04-01

In Duchenne muscular dystrophy (DMD), abnormal cardiac function is typically preceded by a decade of skeletal muscle disease. Molecular reasons for differences in onset and progression of these muscle groups are unknown. Human biomarkers are lacking. We analyzed cardiac and skeletal muscle microarrays from normal and golden retriever muscular dystrophy (GRMD) dogs (ages 6, 12, or 47+ mo) to gain insight into muscle dysfunction and to identify putative DMD biomarkers. These biomarkers were then measured using human DMD blood samples. We identified GRMD candidate genes that might contribute to the disparity between cardiac and skeletal muscle disease, focusing on brain-derived neurotropic factor (BDNF) and osteopontin (OPN/SPP1, hereafter indicated as SPP1). BDNF was elevated in cardiac muscle of younger GRMD but was unaltered in skeletal muscle, while SPP1 was increased only in GRMD skeletal muscle. In human DMD, circulating levels of BDNF were inversely correlated with ventricular function and fibrosis, while SPP1 levels correlated with skeletal muscle function. These results highlight gene expression patterns that could account for differences in cardiac and skeletal disease in GRMD. Most notably, animal model-derived data were translated to DMD and support use of BDNF and SPP1 as biomarkers for cardiac and skeletal muscle involvement, respectively.

Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran

OpenAIRE

BARZEGAR, Mohammad; HABIBI, Parinaz; BONYADY, Mortaza; TOPCHIZADEH, Vahideh; SHIVA, Shadi

2015-01-01

How to Cite This Article: Barzegar M, Habibi P, Bonyady M, Topchizadeh V, Shiva Sh. Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran. Iran J Child Neurol. 2015 Winter; 9(1): 42-48.AbstractObjectiveDuchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. The frequency and distribution of dystrophin gene deletions in DMD/ BMD patients show different patterns among different popula...

Retinal thickness assessed by optical coherence tomography (OCT in pseudophakic macular edema Espessura retiniana medida pela tomografia de coerência óptica (OCT no edema macular do pseudofácico

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Maria Teresa Brizzi Chizzoti Bonanomi

2006-08-01

Full Text Available PURPOSE: To evaluate the usefulness of the optical coherence tomography (OCT retinal map in angiographic pseudophakic macular edema (ACME. METHODS: This is a prospective analysis of a group of 36 pseudophakic eyes at the fifth postoperative week, submitted to optical coherence tomography 2 macular map and fluorescein angiography on the same day and, a control group of twenty-two 20/20 vision eyes with a minimum 6-month postoperative period, submitted to optical coherence tomography 2 macular map only. Exclusion criteria were diabetes, any macular pathology and unreadable optical coherence tomography or angiogram. The angiograms were divided into three groups according to the edema intensity: Group I: level 0 (absence of angiographic pseudophakic macular edema; group II: levels 1 and 2 (incomplete and complete perifoveal angiographic pseudophakic macular edema respectively and group III: levels 3 and 4 (up to one disc diameter and greater than one disc diameter angiographic pseudophakic macular edema area respectively. The nine zones of the optical coherence tomography macular map were compared between the control and the three subgroups of the study group and, between group I and groups II and III. RESULTS: Among the 36 eyes, 23 (64% were classified as group I, 10 (28% as group II and three (8% as group III. The mean thickness of the fovea zone was 185±15 µm for the control group, 189±24 µm for group I, 213±33 µm for group II and 455±38 µm for group III. Significant differences: between group III and the control or group I for all zones (pOBJETIVO: Medir a espessura retiniana pela tomografia de coerência óptica (OCT no edema macular angiográfico do pseudofácico (ACME. MÉTODOS: Trabalho prospectivo composto de um grupo de estudo com 36 olhos pseudofácicos, entre a 4ª e a 6ª semana de pós-operatório, submetidos ao mapa macular com a tomografia de coerência óptica 2 e à angiofluoresceinografia no mesmo dia e, um grupo controle

Phacoemulsification with intravitreal bevacizumab injection in diabetic patients with macular edema and cataract.

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Akinci, Arsen; Batman, Cosar; Ozkilic, Ersel; Altinsoy, Ali

2009-01-01

The purpose of this study was to evaluate the results of phacoemulsification with intravitreal bevacizumab injection in patients with diabetic clinically significant macular edema and cataract. The records of 31 patients with diabetic clinically significant macular edema and cataract, which would interfere with macular laser photocoagulation, who have undergone phacoemulsification with intravitreal injection of 1.25 mg bevacizumab were retrospectively evaluated. All patients had undergone focal or modified grid laser photocoagulation 1 month after the surgery. All patients were evaluated by spectral optical coherence tomography/optical coherence tomography SLO before and 1 and 3 months after the surgery beyond complete ophthalmologic examination. The best-corrected visual acuity (BCVA) levels and central macular thickness (CMT) recorded at the first and third months after the surgery were compared with the initial values. Paired samples t test was used for statistical analysis. The mean initial BCVA was 0.10 +/- 0.04 (range, 0.05-0.2). The mean BCVA at the first and third months after the surgery were 0.47 +/- 0.16 (standard deviation) (range, 0.2-0.5) and 0.51 +/- 0.12 (standard deviation) (range, 0.3-0.6), respectively. The BCVA level recorded at the first and third months after the surgery were significantly higher than the initial BCVA (P = 0.004). The mean initial CMT was 387.5 +/- 109.5 microm. The mean CMT at the first and third months after the surgery were 292.7 +/- 57.2 and 275.5 +/- 40.3. The CMT recorded at the first and third months after the surgery were significantly lower than the initial CMT (P < 0.001, P < 0.001). Phacoemulsification with intravitreal injection of bevacizumab provides improvement in clinically significant macular edema with a gain in BCVA in patients with diabetes with clinically significant macular edema and cataract.

REPRODUCIBILITY OF MACULAR PIGMENT OPTICAL DENSITY MEASUREMENT BY TWO-WAVELENGTH AUTOFLUORESCENCE IN A CLINICAL SETTING.

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You, Qi Sheng; Bartsch, Dirk-Uwe G; Espina, Mark; Alam, Mostafa; Camacho, Natalia; Mendoza, Nadia; Freeman, William R

2016-07-01

Macular pigment, composed of lutein, zeaxanthin, and meso-zeaxanthin, is postulated to protect against age-related macular degeneration, likely because of filtering blue light and its antioxidant properties. Macular pigment optical density (MPOD) is reported to be associated with macular function evaluated by visual acuity and multifocal electroretinogram. Given the importance of macular pigment, reliable and accurate measurement methods are important. The main purpose of this study is to determine the reproducibility of MPOD measurement by two-wavelength autofluorescence method using scanning laser ophthalmoscopy. Sixty-eight eyes of 39 persons were enrolled in the study, including 11 normal eyes, 16 eyes with wet age-related macular degeneration, 16 eyes with dry age-related macular degeneration, 11 eyes with macular edema due to diabetic mellitus, branch retinal vein occlusion or macular telangiectasia, and 14 eyes with tractional maculopathy, including vitreomacular traction, epiretinal membrane, or macular hole. MPOD was measured with a two-wavelength (488 and 514 nm) autofluorescence method with the Spectralis HRA + OCT after pupil dilation. The measurement was repeated for each eye 10 minutes later. The analysis of variance and Bland-Altman plot were used to assess the reproducibility between the two measurements. The mean MPOD at eccentricities of 1° and 2° was 0.36 ± 0.17 (range: 0.04-0.69) and 0.15 ± 0.08 (range: -0.03 to 0.35) for the first measurement and 0.35 ± 0.17 (range: 0.02-0.68) and 0.15 ± 0.08 (range: -0.01 to 0.33) for the second measurement, respectively. The difference between the 2 measurements was not statistically significant, and the Bland-Altman plot showed 7.4% and 5.9% points outside the 95% limits of agreement, indicating an overall excellent reproducibility. Similarly, there is no significant difference between the first and second measurements of MPOD volume within eccentricities of 1°, 2°, and 6° radius, and the Bland

Decreased Nocturnal Movements in Patients with Facioscapulohumeral Muscular Dystrophy

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Marca, Giacomo Della; Frusciante, Roberto; Dittoni, Serena; Vollono, Catello; Losurdo, Anna; Testani, Elisa; Scarano, Emanuele; Colicchio, Salvatore; Iannaccone, Elisabetta; Tonali, Pietro A.; Ricci, Enzo

2010-01-01

Study Objectives: Reduced mobility during sleep characterizes a variety of movement disorders and neuromuscular diseases. Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy in the general population, and people with FSHD have poor sleep quality. The aims of the present study were to evaluate nocturnal motor activity in patients with FSHD by means of videopolysomnography and to verify whether activity was associated with modifications in sleep structure. Methods: We enrolled 32 adult patients affected by genetically confirmed FSHD (18 women and 14 men, mean age 45.1 ± 13.4 years) and 32 matched control subjects, (18 women and 14 men, mean age 45.5 ± 11.4 years). Major body movements (MBM) were scored in videopolygraphic recordings in accordance with established criteria. An MBM index was calculated (number of MBM per hour of sleep). Results: The FSHD group showed a decrease in the MBM index (FSHD: 1.2 ± 1.1; control subjects: 2.3 ± 1.2, analysis of variance F = 13.672; p = 0.008). The sleep pattern of patients with FSHD, as compared with that of controls, was characterized by longer sleep latencies, shorter sleep durations, an increased percentage of wake during sleep, and a decreased percentage of rapid eye movement sleep. In the patient group, the MBM index was inversely correlated with severity of disease (Spearman test: r30 = −0.387; p Marca GD; Frusciante R; Dittoni S; Vollono C; Losurdo A; Testani E; Scarano E; Colicchio S; Iannaccone E; Tonali PA; Ricci E. Decreased nocturnal movements in patients with facioscapulohumeral muscular dystrophy. J Clin Sleep Med 2010;6(3):276-280. PMID:20572422

[Congenital myotonic dystrophy in a Neonatal Intensive Care Unit: case series].

Science.gov (United States)

Domingues, Sara; Alves Pereira, Clara; Machado, Angela; Pereira, Sandra; Machado, Leonilde; Fraga, Carla; Oliveira, Abílio; Vale, Isabel; Quelhas, Ilídio

2014-02-01

Steinert myotonic dystrophy is a multisystemic disease, autosomal dominant, with a wide spectrum of severity and clinical manifestations. The most severe form is one that manifests in the neonatal period, called congenital myotonic dystrophy. This condition is distinguished by overall hypotonia at birth and respiratory function compromise. Complications are frequent, mainly psychomotor development delay, growth failure, food difficulties and constipation. It is associated with a poor prognosis, with an overall mortality of up to 50% of severely affected children. We present five patients with congenital myotonic dystrophy in order to describe clinical manifestations, diagnosis, treatment and prognosis. Existing data in the literature on psychomotor development, complications and prognosis of survivors with congenital myotonic dystrophy are scarce. In our case studies, we have found significant chronic psychomotor limitations.

Comparison of bromfenac 0.09% QD to nepafenac 0.1% TID after cataract surgery: pilot evaluation of visual acuity, macular volume, and retinal thickness at a single site

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Cable M

2012-07-01

Full Text Available Melissa CableDiscover Vision Centers, Independence, MO, USAPurpose: The purpose of this study was to investigate the clinical outcomes of bromfenac ophthalmic solution 0.09% once daily (QD and nepafenac 0.1% ophthalmic suspension three times daily following cataract extraction with posterior chamber intraocular lens implantation, specifically looking at any differences in Early Treatment Diabetic Retinopathy Study visual acuities, macular volume, and/or retinal thickness changes.Methods: Subjects were randomly assigned to receive either bromfenac (n = 10 QD or nepafenac (n = 10 three times daily. Dosing began 3 days before cataract surgery, continuing to day 21 postsurgery. In addition to the investigated nonsteroidal antiinflammatory drug regimen, all subjects received antiinfective intraoperative and postoperative standard of care. Subjects were followed at 1 day and 1, 3, and 6 weeks postoperatively. Study visit assessments included best-corrected visual acuity, biomicroscopy, summed ocular inflammation score (anterior chamber cells and flare grading, intraocular pressure measurement, adverse event recording, and concomitant medication review. Optical coherence tomography was performed at 1, 3, and 6 weeks.Results: Both treatment groups had similar baseline measurements. Outcomes for mean letters read (P = 0.318, mean change in macular volume (P = 0.665, and retinal thickness (P = 0.552 were not statistically different between the groups from baseline through week six, although independently only the bromfenac group demonstrated a statistically significant improvement in letters gained from baseline to week six (P = 0.040. In the same time period, mean macular volume and retinal thickening worsened in the nepafenac group, demonstrating a statistically significant increase (P = 0.006 at week six for macular volume when compared to baseline. One subject in the nepafenac group experienced recurrent inflammation at week six, was unmasked, and

MR imaging in the evaluation of macular degeneration and intraocular tumorlike conditions

International Nuclear Information System (INIS)

Mafee, M.F.; Peyman, G.A.; Cohen, S.B.; Capek, V.

1987-01-01

The MR characteristics of malignant uveal melanoma and choroidal hematoma have been described. This paper reports on MR imaging and CT examinations of patients who had macular degeneration, retinal and subretinal masses (hematoma, dense scar), choroidal metastases, choroidal nevus, and choroidal leiomyoma. Several diagnostically helpful MR findings were noted. Posterior hyaloid detachment with associated retinal detachment and subretinal hematoma in patients with macular degeneration demonstrated by MR imaging. Associated liquefaction of the vitreous in our patients with macular degeneration was seen as hyperintensity of the involved vitreous. Hematomas, metastases, and nevi may be confused with uveal melanoma. Choroidal leiomyoma had characteristic high signal intensity in both T1- and T2-weighted images

Relationship between macular ganglion cell complex thickness and macular outer retinal thickness: a spectral-domain optical coherence tomography study.

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Kita, Yoshiyuki; Kita, Ritsuko; Takeyama, Asuka; Anraku, Ayako; Tomita, Goji; Goldberg, Ivan

2013-01-01

To assess the relationship between macular ganglion cell complex and macular outer retinal thicknesses. Case-control study. Forty-two normal eyes and 91 eyes with primary open-angle glaucoma were studied. Spectral-domain optical coherence tomography (RTVue-100) was used to measure the macular ganglion cell complex and macular outer retinal thickness. Ganglion cell complex to outer retinal thickness ratio was also calculated. The relationships between the ganglion cell complex and outer retinal thicknesses and between the ganglion cell complex to outer retinal thickness ratio and outer retinal thickness were evaluated. There was a positive correlation between ganglion cell complex and outer retinal thicknesses in the normal group and the glaucoma group (r = 0.53, P variation in the outer retinal thickness. Therefore, when determining the ganglion cell complex, it seems necessary to consider the outer retinal thickness as well. We propose the ratio as a suitable parameter to account for individual variations in outer retinal thickness. © 2013 The Authors. Clinical and Experimental Ophthalmology © 2013 Royal Australian and New Zealand College of Ophthalmologists.

Comparative Effectiveness of Three Prophylactic Strategies to Prevent Clinical Macular Edema after Phacoemulsification Surgery.

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Shorstein, Neal H; Liu, Liyan; Waxman, Michael D; Herrinton, Lisa J

2015-12-01

To study the relationship of chemoprophylaxis and other factors with the occurrence of acute, clinical, postoperative macular edema. Retrospective cohort study. The drug regimens consisted of postoperative topical prednisolone acetate (PA) alone or with a nonsteroidal anti-inflammatory drug (NSAID) or intraoperative subconjunctival injection of 2 mg triamcinolone acetonide (TA) alone. Patients undergoing phacoemulsification at Kaiser Permanente, Diablo Service Area, Northern California, from 2007 through 2013. We identified incident macular edema diagnoses that had been recorded 5 to 120 days after phacoemulsification with visual acuity 20/40 or worse and evidence of macular thickening by optical coherence tomography. Odds ratios (ORs) and 95% confidence intervals (CIs) were obtained from logistic regression analysis, conditioned on the surgeon and adjusted for year, patient age and race, diabetic retinopathy status, other ocular comorbidities, systemic comorbidities, and posterior capsular rupture status. Incident rates of acute, clinical, postoperative macular edema. We confirmed 118 cases among 16 070 cataract surgeries (incidence, 0.73%). Compared with PA alone, the OR for the relationship of macular edema with PA+NSAID was 0.45 (95% CI, 0.21-0.95) and that for TA injection was 1.21 (95% CI, 0.48-3.06). The frequency of intraocular pressure spikes of 30 mmHg or more between postoperative days 16 and 45 was 0.6% in the topical PA group, 0.3% in the topical PA+NSAID group (P = 0.13), and 0.8% for the TA group (P = 0.52). Black race was associated with a risk of macular edema (OR, 2.86; 95% CI, 1.41-5.79). Adding a prophylactic NSAID to PA treatment was associated with a reduced risk of macular edema with visual acuity of 20/40 or worse. The risk and safety of TA injection were similar to those of PA alone. Further research is needed on the prognostic significance of postoperative macular edema, the role of prophylaxis, the risk among black people, and the

[Evaluation of fundus autofluorescence in hereditary retinal diseases using Heidelberg Retina Angiograph2].

Science.gov (United States)

Côco, Monique; Baba, Natalia Tamie; Sallum, Juliana Maria Ferraz

2007-01-01

To define characteristics of the fundus autofluorescence examination, verifying usefulness in the diagnosis and care of hereditary retinal diseases. 28 patients, adults, divided equally into four groups with diagnoses of Stargardt macular dystrophy, cone dystrophy, retinitis pigmentosa and healthy volunteers for the establishment of the normality pattern. An average of nine images with the filter for fluorescein angiography was obtained for the formation of the image autofluorescence using Heidelberg Retina Angiograph2. The images of each group of patients were analyzed to verify common characteristics. The fundus autofluorescence of healthy volunteers showed the foveal area darker than the surrounding retina. The images of Stargardt macular dystrophy, in general, presented an oval central lesion, with reduced autofluorescence. The main alterations of the autofluorescence in patients with cone dystrophy were reduced foveal autofluorescence with a parafoveal ring of increased autofluorescence. In general, the images of retinitis pigmentosa showed outlying pigments with reduced autofluorescence, and of the foveal area, in some cases disorganization or reduced autofluorescence. The study showed the existence of patterns of fundus autofluorescence in the hereditary retinal diseases that allow the diagnosis and better interpretation of the pathogenesis of these diseases.

The role of steroids in the management of uveitic macular edema

NARCIS (Netherlands)

de Smet, Marc D.; Julian, Karina

2010-01-01

Purpose. To review the role of steroids in the management of uveitic macular edema. Methods. Review of recent literature on the physiopathology of macular edema and clinical trials involving steroids as main treatment of uveitic macular edema. Results. The steroid-glucocorticoid receptor complex

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...

Spontaneously resolving macular cyst in an infant

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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.

IMPACT OF INTERNAL LIMITING MEMBRANE PEELING ON MACULAR HOLE REOPENING: A Systematic Review and Meta-Analysis.

Science.gov (United States)

Rahimy, Ehsan; McCannel, Colin A

2016-04-01

To assess the literature regarding macular hole reopening rates stratified by whether the internal limiting membrane (ILM) was peeled during vitrectomy surgery. Systematic review and meta-analysis of studies reporting on macular hole reopenings among previously surgically closed idiopathic macular holes. A comprehensive literature search using the National Library of Medicine PubMed interface was used to identify potentially eligible publications in English. The minimum mean follow-up period for reports to be included in this study was 12 months. Analysis was divided into eyes that underwent vitrectomy with and without ILM peeling. The primary outcome parameter was the proportion of macular hole reopenings among previously closed holes between the two groups. Secondary outcome parameters included duration from initial surgery to hole reopening and preoperative and postoperative best-corrected correct visual acuities among the non-ILM peeling and ILM peeling groups. A total of 50 publications reporting on 5,480 eyes met inclusion criteria and were assessed in this meta-analysis. The reopening rate without ILM peeling was 7.12% (125 of 1,756 eyes), compared with 1.18% (44 of 3,724 eyes) with ILM peeling (odds ratio: 0.16; 95% confidence interval: 0.11-0.22; Fisher's exact test: P peeling during macular hole surgery reduces the likelihood of macular hole reopening.

Comparison of macular choroidal thickness among patients older than age 65 with early atrophic age-related macular degeneration and normals.

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Sigler, Eric J; Randolph, John C

2013-09-19

To compare macular choroidal thickness between patients older than 65 years with early atrophic age-related macular degeneration (AMD) and normals. This was a consecutive, cross-sectional observational study. Enhanced depth imaging spectral-domain optical coherence tomography using horizontal raster scanning at 12 locations throughout the macula was performed in one eye of consecutive patients presenting with large soft drusen alone, drusen with additional features of early AMD, or a normal fundus. Choroidal thickness was measured at 7 points for each raster scan in the central 3 mm of the macula (total 84 points per eye). In addition, a single subfoveolar measurement was obtained for each eye. One hundred fifty eyes of 150 patients were included. There was no significant difference between mean refractive error for each diagnosis category via one-way ANOVA (P = 0.451). Mean macular choroidal thickness (CT) was 235 ± 49 μm (range, 125-334 μm; median 222 μm) for normals, 161 ± 39 μm (range, 89-260 μm; median = 158 μm) for the drusen group, and 115 ± 40 μm (range, 22-256 μm; median = 112 μm) for patients with AMD. Mean macular CT was significantly different via one-way ANOVA among all diagnosis categories (P < 0.001). The presence of features of early AMD without geographic atrophy and/or soft drusen alone is associated with decreased mean macular CT in vivo compared to that in patients with no chorioretinal pathology. Using enhanced depth imaging, measurement of a single subfoveolar choroidal thickness is highly correlated to mean central macular CT.

Dasatinib as a treatment for Duchenne muscular dystrophy.

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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.

Prevalence of cardiomyopathy in duchenne and becker's muscular dystrophy

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Sultan, A.; Fayaz, M.

2008-01-01

Cardiac assessment was not done routinely in Duchenne (DMD) and Becker muscular dystrophy (BMD) patients in Northern region of England while evidence was gathering on progressive cardiomyopathy in these patients. We wanted to find out the prevalence, progression and clinical features of cardiac involvement in Duchenne and Becker muscular dystrophy. Methods: It is a retrospective review of clinical, electrocardiographic and echocardiographic assessments. The notes of 52 Duchenne and Becker muscular dystrophy patients were reviewed out of which 32 had DMD, 6 had Intermediate muscular dystrophy (IMD) and 14 had BMD. Prevalence of preclinical and clinically evident cardiac involvement was 88.4% in DMD and BMD patients. Sixty nine% of patients had clinically evident cardiac involvement but only four patients had cardiac symptoms in the form of palpitations, out of which two were due to respiratory dysfunction and others was due to cardiac failure. Clinical examination of the rest of all of the patients was unremarkable. Electrocardiogram was abnormal in 88.4% of patients. Conduction defects were found in 19.4% of patients. Echocardiogram was abnormal in 80.7% of patients but all were poor echo subjects including those who had normal echocardiogram. Though most patients were asymptomatic, a high percentage had evidence of preclinical and clinically evident cardiac involvement. So in all patients with Xp21 linked muscular dystrophy a routine baseline cardiac assessment should be done at the age of 10 years and reviewed after intervals of one to two years. (author)

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

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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 autofluorescence matching optical coherence tomography angiography showed that the CC nonperfusion area was almost included in the MA area. The mean concordance rate for the MA area inside the CC nonperfusion area was 87.7 ± 13.9%. The MA and CC nonperfusion areas markedly overlapped. The area of CC nonperfusion correlated with the MA area. Choroidal ischemia might be involved in the pathogenesis of MA in treated 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.

Radiation therapy for age-related macular degeneration

Energy Technology Data Exchange (ETDEWEB)

Takagi, Chikako; Mori, Hideo; Akuta, Keizou [Otsu Red Cross Hospital, Shiga (Japan); Yoshimura, Nagahisa

1998-04-01

We evaluated the effect of low-dose radiation on age-related macular degeneration in 8 affected eyes. Radiation was applied using photons at 4 MV. Each eye received 10 fractions of 2 Gy per day over 2 weeks. At 6 months after treatment, funduscopic or angiographic findings had either improved or remained unchanged in all the eyes. The visual acuity improved by 2 lines or more in 2 eyes (25%), remained unchanged in 5 eyes (63%) and deteriorated in 1 eye (13%). At the last examination, fundus findings had improved in 2 eyes (25%), remained unchanged in 1 eye (13%) and deteriorated in 5 eyes (63%). The visual acuity had improved or unchanged in 2 eyes each (25%) and deteriorated in 4 eyes (50%). There has been no negative side effects of radiation. Above findings show that low-dose radiation is potentially beneficial for subfoveal or juxtafoveal choroidal neovascularizations in age-related macular degeneration on a short term basis. (author)

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

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Xinhua Shu

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

Multiple extrafoveal macular holes following internal limiting membrane peeling

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Hussain N

2018-05-01

Full Text Available Nazimul Hussain, Sandip Mitra Department of Ophthalmology, Al Zahra Hospital, Sharjah, United Arab Emirates Objective: Internal limiting membrane (ILM peeling has been the standard of treatment for macular holes. Besides, causing retinal nerve fiber layer surface abnormality, postoperative extrafoveal multiple retinal holes is a rare phenomenon following ILM peeling. We report an unusual complication of eight extrafoveal macular holes occurring following ILM peeling.Case presentation: A 60-year-old male presented with complaints of decreased and distorted vision in the right eye. He was diagnosed as having epiretinal membrane with lamellar macular hole. He underwent 23G pars plana vitrectomy, brilliant blue assisted ILM peeling and fluid gas exchange. Intraoperatively, ILM was found to be adherent to the underlying neurosensory retina. One month after cataract surgery, he underwent YAG capsulotomy in the right eye. He complained of visual distortion. His fundus evaluation in the right eye showed multiple (eight extrafoveal retinal holes temporal to the macula clustered together.Conclusion: This case demonstrated that peeling of ILM, especially when it is adherent to the underlying neurosensory retina, may cause unwanted mechanical trauma to the inner retina. Glial apoptosis and neuronal degeneration may presumably play a role in delayed appearance of multiple (eight extrafoveal macular holes, which has not been reported earlier. Keywords: internal limiting membrane, lamellar macular hole, full thickness macular holes, epiretinal membrane

Association of statin use and hypertriglyceridemia with diabetic macular edema in patients with type 2 diabetes and diabetic retinopathy.

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Chung, Yoo-Ri; Park, Sung Wook; Choi, Shin-Young; Kim, Seung Woo; Moon, Ka Young; Kim, Jeong Hun; Lee, Kihwang

2017-01-07

To investigate the effects of dyslipidemia and statin therapy on progression of diabetic retinopathy and diabetic macular edema in patients with type 2 diabetes. The medical records of 110 patients with type 2 diabetes (70 statin users and 40 non-users) were retrospectively reviewed. The two outcome measures were progression of diabetic retinopathy by two or more steps on the early treatment diabetic retinopathy study scale and diabetic macular edema based on optical coherence tomography. Serum lipid profiles were analyzed from 6 months prior to diagnosis of diabetic macular edema. Diabetic retinopathy progressed in 23% of statin users and 18% of non-users (p = 0.506), but diabetic macular edema was present in 23% of statin users and 48% of non-users (p = 0.008). Statins reduced low-density lipoprotein cholesterol levels in patients with and without diabetic macular edema (p = 0.043 and p = 0.031, respectively). Among statin users, patients with diabetic macular edema had higher levels of triglycerides (p = 0.004) and lower levels of high-density lipoprotein cholesterol (p = 0.033) than those without diabetic macular edema. Logistic regression analysis showed that statin use significantly lowered the risk of diabetic macular edema [odds ratio (OR): 0.33, 95% confidence interval (CI) 0.12-0.91, p = 0.032]. Hypertriglyceridemia at 6 months prior to development of macular edema was significantly associated with central retinal thickness (OR: 1.52; 95% CI 1.14-2.02, p = 0.005). Lipid lowering therapy with statins protected against the development of diabetic macular edema and progression of diabetic retinopathy in patients with type 2 diabetes. Hypertriglyceridemia could be used as a surrogate marker for diabetic macular edema.

Macular structural characteristics in children with Down syndrome.

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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 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.

Muscular Dystrophy: Hope Through Research

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... of muscular dystrophy appeared in 1830, when Sir Charles Bell wrote an essay about an illness that ... linked disorder to their sons but their daughters will be carriers of that disorder. Carrier females occasionally ...

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

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Elaine W Chong

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

Brain gray matter structural network in myotonic dystrophy type 1.

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Atsuhiko Sugiyama

Full Text Available This study aimed to investigate abnormalities in structural covariance network constructed from gray matter volume in myotonic dystrophy type 1 (DM1 patients by using graph theoretical analysis for further clarification of the underlying mechanisms of central nervous system involvement. Twenty-eight DM1 patients (4 childhood onset, 10 juvenile onset, 14 adult onset, excluding three cases from 31 consecutive patients who underwent magnetic resonance imaging in a certain period, and 28 age- and sex- matched healthy control subjects were included in this study. The normalized gray matter images of both groups were subjected to voxel based morphometry (VBM and Graph Analysis Toolbox for graph theoretical analysis. VBM revealed extensive gray matter atrophy in DM1 patients, including cortical and subcortical structures. On graph theoretical analysis, there were no significant differences between DM1 and control groups in terms of the global measures of connectivity. Betweenness centrality was increased in several regions including the left fusiform gyrus, whereas it was decreased in the right striatum. The absence of significant differences between the groups in global network measurements on graph theoretical analysis is consistent with the fact that the general cognitive function is preserved in DM1 patients. In DM1 patients, increased connectivity in the left fusiform gyrus and decreased connectivity in the right striatum might be associated with impairment in face perception and theory of mind, and schizotypal-paranoid personality traits, respectively.

Macular xanthophylls, lipoprotein-related genes, and age-related macular degeneration.

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

2014-07-01

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. © 2014 American Society for Nutrition.

The Frequency of Serous Macular Detachment in Diabetic Macular Edema

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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

How Physicians Support Mothers of Children with Duchenne Muscular Dystrophy.

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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.

Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

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Gosal Gurinder S

2011-03-01

Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

[Current concepts in pathogenesis of age-related macular degeneration].

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Kubicka-Trząska, Agnieszka; Karska-Basta, Izabella; Romanowska-Dixon, Bożena

2014-01-01

Age-related macular degeneration is the leading cause of central blindness in elderly population of the western world. The pathogenesis of this disease, likely multifactorial, is not well known, although a number of theories have been put forward, including oxidative stress, genetic interactions, hemodynamic imbalance, immune and inflammatory processes. The understanding of age-related macular degeneration pathogenesis will give rise to new approaches in prevention and treatment of the early and late stages of both atrophic and neovascular age-related macular degeneration.

Short-Acting Gas Tamponade with Strict Face-Down Posturing for the Treatment of Idiopathic Macular Hole.

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Gotzaridis, Stratos; Liazos, Efstathios; Petrou, Petros; Georgalas, Ilias

2017-01-01

A retrospective consecutive case series to evaluate the safety and efficacy of 25 gauge pars plana vitrectomy, ILM peeling, 20% SF 6 gas tamponade and strict posturing for the treatment of idiopathic full-thickness macular holes. We report the results of 106 consecutive eyes that underwent standard 25-gauge pars plana vitrectomy, brilliant peel-assisted internal limiting membrane peel, fluid:gas exchange with 20% SF 6 and strict posturing for one week. All patients were followed up at one week, one month, three months, and nine months postoperatively. Biomicroscopy at day 1 and biomicroscopy and OCT at week 1, months 1, 3, and 9 were used to assess macular hole status postoperatively. Pre- and postoperative logMAR visual acuity was compared. The macular hole was closed in 102/106 eyes postoperatively (96.2%). Four eyes showed unclosed macular holes and underwent additional SF 6 intravitreal injection and strict posturing for 10 days. All macular holes were eventually closed without the need of a second surgical procedure. Mean visual acuity improved from 0.63 logMAR preoperatively to 0.39 logMAR postoperatively. One case of retinal toxicity was reported due to accidental intravitreal injection of antibiotic. 25-gauge vitrectomy, ILM peel, and short-acting gas tamponade are highly effective for the treatment of macular holes. Additional intravitreal gas injection followed by strict posturing seems to be a simple and effective treatment for unclosed holes.

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

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Anvar, Seyed Yahya; Raz, Yotam; Verway, Nisha

2013-01-01

Oculopharyngeal muscular dystrophy (OPMD) is caused by trinucleotide repeat expansion mutations in Poly(A) binding protein 1 (PABPN1). PABPN1 is a regulator of mRNA stability and is ubiquitously expressed. Here we investigated how symptoms in OPMD initiate only at midlife and why a subset...... of skeletal muscles is predominantly affected. Genome-wide RNA expression profiles from Vastus lateralis muscles human carriers of expanded-PABPN1 at pre-symptomatic and symptomatic stages were compared with healthy controls. Major expression changes were found to be associated with age rather than...... with expression of expanded-PABPN1, instead transcriptomes of OPMD and elderly muscles were significantly similar (P...

Bilateral nanophthalmos and pigmentary retinal dystrophy--an unusual syndrome.

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Proença, Helena; Castanheira-Dinis, A; Monteiro-Grillo, M

2006-09-01

To report the clinical picture of the rare association of nanophthalmos and pigmentary retinal dystrophy and its cataract surgery outcome. We report a case of a 60-year-old female who presented with bilateral slowly progressive visual loss. The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia. Ultrasonography revealed bilateral nanophthalmos. A visual-evoked potential was also performed preoperatively. Cataract surgery with +40D IOL implantation was uneventful. Postoperative fundus examination revealed pigmentary retinal dystrophy, confirmed by electrophysiologic tests. Glycosaminoglycan urinary excretion was normal. Congenital bilateral nanophthalmos may rarely be associated with pigmentary retinal dystrophy. We suggest thorough preoperative evaluation in nanophthalmic eyes for the exclusion of significant features concerning visual prognosis.

Morphision: A method for subjective evaluation of metamorphopsia in patients with unilateral macular pathology (i.e., full thickness macular hole and epiretinal membrane

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Marta Ugarte

2013-01-01

Full Text Available Background: Lack of clinical tests to quantify spatial components of distortion in patients with full thickness macular holes (FTMH and epiretinal membranes (ERM. Aim: To develop a test for subjective evaluation of visual distortion in the central visual field around fixation in patients with unilateral FTMH or ERM. Settings and Design: Prospective case-control study carried out at tertiary referral center. Materials and Methods: Twenty-five patients with unilateral macular disease (13 macular epiretinal membranes, 12 full-thickness macular holes, and nine controls (without ocular pathology underwent ophthalmological examination with logMAR ETDRS visual acuity, near vision and contrast sensitivity assessed. Macular optical coherence tomography and metamorphopsia assessment using Morphision test was also carried out. This test consists of a set of modified Amsler charts for detection, identification, and subjective quantification of visual distortion in the central visual field around fixation. Morphision test content and construct validity, and reliability (test-retest method were evaluated. Sixteen patients completed an unstructured survey on test performance and preference. Results: Every patient with unilateral FTMH or ERM identified a particular chart using Morphision test (content validity. None of the normal subjects without symptoms of metamorphopsia identified any distortion (construct validity. Test-retest showed a 100% consistency for frequency and 67% for amplitude. The mean amplitude difference between measurements was 0.02 degrees (SD = 0.038. The coefficient of repeatability was 0.075. There was a correlation between Morphision amplitude score and visual acuity and contrast sensitivity, individually. Conclusions: Morphision test allowed detection and subjective quantification of metamorphopsia in the clinical setting in our patients with unilateral macular epiretinal membranes and full thickness macular holes.

Current status in diabetic macular edema treatments

Institute of Scientific and Technical Information of China (English)

Pedro; Romero-Aroca

2013-01-01

Diabetes is a serious chronic condition,which increase the risk of cardiovascular diseases,kidney failure and nerve damage leading to amputation.Furthermore the ocular complications include diabetic macular edema,is the leading cause of blindness among adults in the industrialized countries.Today,blindness from diabetic macular edema is largely preventable with timely detection and appropriate interventional therapy.The treatment should include an optimized control of glycemia,arterial tension,lipids and renal status.The photocoagulation laser is currently restricted to focal macular edema in some countries,but due the high cost of intravitreal drugs,the use of laser treatment for focal and diffuse diabetic macular edema(DME),can be valid as gold standard in many countries.The intravitreal anti vascular endothelial growth factor drugs(ranibizumab and bevacizumab),are indicated in the treatment of all types of DME,but the correct protocol for administration should be defined for the different Retina Scientific Societies.The corticosteroids for diffuse DME,has a place in pseudophakic patients,but its complications restricted the use of these drugs for some patients.Finally the intravitreal interface plays an important role and its exploration is mandatory in all DME patients.

Meaning of Muscular Dystrophy

Science.gov (United States)

... is very similar to Duchenne, except kids with Becker MD may not have problems until much later, when they're teenagers or adults. It takes a long time for their muscles to become weak. How Does a Kid Get Muscular Dystrophy? MD is not contagious (say: con-TAY-juss), ...

Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy

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Lo, Ivan F. M.; Cherk, Sharon W. W.; Cheng, Wai Wai; Fung, Eva L. W.; Yeung, Wai Lan; Ngan, Mary; Lee, Wing Cheong; Kwong, Ling; Wong, Suet Na; Ma, Che Kwan; Tai, Shuk Mui; Ng, Grace S. F.; Wu, Shun Ping; Wong, Virginia C. N.

2015-01-01

The aim of this collaborative study on Duchenne muscular dystrophy and Becker muscular dystrophy is to determine the prevalence and to develop data on such patients as a prelude to the development of registry in Hong Kong. Information on clinical and molecular findings, and patient care, was systematically collected in 2011 and 2012 from all Pediatric Neurology Units in Hong Kong. Ninety patients with dystrophinopathy were identified, and 83% has Duchenne muscular dystrophy. The overall prevalence of dystrophinopathy in Hong Kong in 2010 is 1.03 per 10 000 males aged 0 to 24 years. Among the Duchenne group, we observed a higher percentage (40.6%) of point mutations with a lower percentage (45.3%) of exon deletions in our patients when compared with overseas studies. Although we observed similar percentage of Duchenne group received scoliosis surgery, ventilation support, and cardiac treatment when compared with other countries, the percentage (25%) of steroid use is lower. PMID:28503591

A Prospective Study

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Nandeesh BN

2014-08-01

Lattice and Avellino's dystrophies among dystrophies and Salzmann's nodular degeneration showed specific stromal deposits making them easily diagnosable at histopathology, whereas the rest showed non-specific stromal changes mandating correlation with clinical findings. Seven regraft corneas showed stromal fibrosis making identification of primary dystrophy impossible. However, transmural vascularization and lymphocytic stromal infiltrate were prominently noted in failed grafts though their numbers were few. Conclusion: This histopathologic study characterizes classic features of macular, Avellino's, lattice corneal dystrophies and Salzmann's degeneration for their microscopic diagnosis, while the rest showed non-specific changes. Stromal edema was prominently noted in degenerations than in dystrophies. Degree of stromal vascularization and type of cellular infiltrate need attention in regrafts. [J Interdiscipl Histopathol 2014; 2(4.000: 197-204

Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy.

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Holtzer, Caleb; Meaney, F John; Andrews, Jennifer; Ciafaloni, Emma; Fox, Deborah J; James, Katherine A; Lu, Zhenqiang; Miller, Lisa; Pandya, Shree; Ouyang, Lijing; Cunniff, Christopher

2011-11-01

To determine whether sociodemographic factors are associated with delays at specific steps in the diagnostic process of Duchenne and Becker muscular dystrophy. We examined abstracted medical records for 540 males from population-based surveillance sites in Arizona, Colorado, Georgia, Iowa, and western New York. We used linear regressions to model the association of three sociodemographic characteristics with age at initial medical evaluation, first creatine kinase measurement, and earliest DNA analysis while controlling for changes in the diagnostic process over time. The analytical dataset included 375 males with information on family history of Duchenne and Becker muscular dystrophy, neighborhood poverty levels, and race/ethnicity. Black and Hispanic race/ethnicity predicted older ages at initial evaluation, creatine kinase measurement, and DNA testing (P Becker muscular dystrophy predicted younger ages at initial evaluation, creatine kinase measurement and DNA testing (P Becker muscular dystrophy are evident even after adjustment for family history of Duchenne and Becker muscular dystrophy and changes in the diagnostic process over time. Black and Hispanic children are initially evaluated at older ages than white children, and the gap widens at later steps in the diagnostic process.

Pars Plana Vitrectomy with Internal Limiting Membrane Peeling for Nontractional Diabetic Macular Edema.

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Ulrich, Jan Niklas

2017-01-01

Diabetes mellitus remains the leading cause of blindness among working age Americans with diabetic macular edema being the most common cause for moderate and severe vision loss. To investigate the anatomical and visual benefits of pars plana vitrectomy with inner limiting membrane peeling in patients with nontractional diabetic macular edema as well as correlation of integrity of outer retinal layers on spectral domain optical coherence tomography to visual outcomes. We retrospectively reviewed the charts of 42 diabetic patients that underwent vitrectomy with internal limiting membrane peeling for nontractional diabetic macula edema. The integrity of outer retinal layers was evaluated and preoperative central macular thickness and visual acuity were compared with data at 1 month, 3 months and 6 months postoperatively. The student t-test was used to compare the groups. 31 eyes were included. While no differences were seen at 1 and 3 months, there was significant improvement of both central macular thickness and visual acuity at the 6 months follow up visit compared to preoperatively (357, 427 microns; p=0.03. 20/49, 20/82; p=0.03) . Patients with intact external limiting membrane and ellipsoid zone had better preoperative vision than patients with outer retinal layer irregularities (20/54, 20/100; p=0.03) and greater visual gains postoperatively (20/33, ppeeling can improve retinal anatomy and visual acuity in patients with nontractional diabetic macular edema. Spectral domain optical coherence tomography may help identify patients with potential for visual improvement.

Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

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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.

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...

The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use

DEFF Research Database (Denmark)

Jeppesen, J; Green, A; Steffensen, B.F.

2003-01-01

Mechanical ventilation of patients with Duchenne muscular dystrophy continues to be a subject of study. The purpose was to estimate prevalence, incidence, mortality and use of mechanical ventilation in the total Duchenne muscular dystrophy population in Denmark between 1977 and 2001 and further....... While overall incidence remained stable at 2.0 per 105, prevalence rose from 3.1 to 5.5 per 105, mortality fell from 4.7 to 2.6 per 100 years at risk and prevalence of Duchenne muscular dystrophy ventilator users rose from 0.9 to 43.4 per 100. We conclude that survival of Duchenne muscular dystrophy...

Bilateral Intravitreal Dexamethasone Implant for Retinitis Pigmentosa-Related Macular Edema

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Ali Osman Saatci

2013-03-01

Full Text Available Purpose: To report the efficacy of intravitreal dexamethasone implant in a patient with retinitis pigmentosa and bilateral cystoid macular edema unresponsive to topical carbonic anhydrase inhibitors. Case Report: A 36-year-old man with bilateral cystoid macular edema associated with retinitis pigmentosa that was unresponsive to topical carbonic anhydrase inhibitors underwent bilateral 0.7-mg intravitreal dexamethasone implants two weeks apart. Spectral domain optical coherence tomography revealed resolution of macular edema one week following each injection in both eyes and his visual acuity improved. However, macular edema recurred two months later in OS and three months later in OD. Second implant was considered for both eyes. No implant-related complication was experienced during the follow-up of seven months. Conclusion: Inflammatory process seems to play a role in retinitis pigmentosa. Intravitreal dexamethasone implant may offer retina specialists a therapeutic option especially in cases unresponsive to other treatment regimens in eyes with retinitis pigmentosa-related macular edema.

Adult patient with Becker dystrophy undergoing orthopedic surgery: an anesthesia challenge

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Parish M

2018-02-01

Full Text Available Masoud Parish, Haleh Farzin Anesthesiology Department, Tabriz University of Medical Sciences, Shohada Teaching Hospital, Tabriz, Iran Abstract: Muscular dystrophies are considered to be a series of neuromuscular diseases with genetic causes and are characterized by progressive muscle weakness and degeneration of the skeletal muscle. The case of an adult man with Becker dystrophy referred for repair of the patella tendon tearing and patella fracture is described. He underwent successful surgery using total intravenous anesthesia without any complications. Keywords: Becker dystrophy, orthopedic surgery, adult, intravenous anesthesia

[Human myopathy and animal muscular dystrophy].

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Schapira, G; Dreyfus, J C; Schapira, F

1977-08-01

Two hereditary muscular dystrophies similar to human progressive muscular dystrophy (P.M.D. Duchenne type) have been isolated in animals, one in mouse, the other in chicken. The decrease in the activity of glycogenolytic enzymes is similar to that observed in denervated muscle. Isozymic fetal types for several muscular enzymes have been observed as well in chicken as in man, but this fetal type may also be found in neurogenic atrophy. The release in circulation of muscle enzymes seems more specific. But the origin of the genetic lesion is still unknown. We describe here the three different theories about this problem: i.e. neurogenic, vascular, or myogenic. This last theory implies a trouble of membrane permeability.

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Science.gov (United States)

Palmio, Johanna; Jonson, Per Harald; Evilä, Anni; Auranen, Mari; Straub, Volker; Bushby, Kate; Sarkozy, Anna; Kiuru-Enari, Sari; Sandell, Satu; Pihko, Helena; Hackman, Peter; Udd, Bjarne

2015-11-01

DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding missense mutations, p.F89I, p.F93I, p.F93L, and p.P96R, have been reported in families from Europe, North America and Asia. The previously known mutations cause mainly adult-onset proximal muscle weakness with moderate progression and without respiratory involvement. A Finnish family and a British patient have been studied extensively due to a severe muscular dystrophy. The patients had childhood-onset LGMD, loss of ambulation in early adulthood and respiratory involvement; one patient died of respiratory failure aged 32. Two novel mutations, c.271T > A (p.F91I) and c.271T > C (p.F91L), in DNAJB6 were identified by whole exome sequencing as a cause of this severe form of LGMD1D. The results were confirmed by Sanger sequencing. The anti-aggregation effect of the mutant DNAJB6 was investigated in a filter-trap based system using transient transfection of mammalian cell lines and polyQ-huntingtin as a model for an aggregation-prone protein. Both novel mutant proteins show a significant loss of ability to prevent aggregation. Copyright © 2015 Elsevier B.V. All rights reserved.

Interventions for the treatment of uveitic macular edema: a systematic review and meta-analysis

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Karim, Rushmia; Sykakis, Evripidis; Lightman, Susan; Fraser-Bell, Samantha

2013-01-01

Background Uveitic macular edema is the major cause of reduced vision in eyes with uveitis. Objectives To assess the effectiveness of interventions in the treatment of uveitic macular edema. Search strategy Cochrane Central Register of Controlled Trials, Medline, and Embase. There were no language or data restrictions in the search for trials. The databases were last searched on December 1, 2011. Reference lists of included trials were searched. Archives of Ophthalmology, Ophthalmology, Retina, the British Journal of Ophthalmology, and the New England Journal of Medicine were searched for clinical trials and reviews. Selection criteria Participants of any age and sex with any type of uveitic macular edema were included. Early, chronic, refractory, or secondary uveitic macular edema were included. We included trials that compared any interventions of any dose and duration, including comparison with another treatment, sham treatment, or no treatment. Data collection and analysis Best-corrected visual acuity and central macular thickness were the primary outcome measures. Secondary outcome data including adverse effects were collected. Conclusion More results from randomized controlled trials with long follow-up periods are needed for interventions for uveitic macular edema to assist in determining the overall long-term benefit of different treatments. The only intervention with sufficiently robust randomized controlled trials for a meta-analysis was acetazolamide, which was shown to be ineffective in improving vision in eyes with uveitic macular edema, and is clinically now rarely used. Interventions showing promise in this disease include dexamethasone implants, immunomodulatory drugs and anti-vascular endothelial growth-factor agents. When macular edema has become refractory after multiple interventions, pars plana vitrectomy could be considered. The disease pathophysiology is uncertain and the course of disease unpredictable. As there are no clear guidelines from

Macular degeneration - age-related

Science.gov (United States)

... AMD occurs when the blood vessels under the macula become thin and brittle. Small yellow deposits, called drusen, form. Almost all people with macular degeneration start with the dry form. Wet AMD occurs ...

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)....

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

NARCIS (Netherlands)

van der Kooi, A. J.; Bonne, G.; Eymard, B.; Duboc, D.; Talim, B.; van der Valk, M.; Reiss, P.; Richard, P.; Demay, L.; Merlini, L.; Schwartz, K.; Busch, H. F. M.; de Visser, M.

2002-01-01

Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy

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...... center field thickness and in 6 of 8 eyes by an increase in BCVA of 5 or more approxETDRS letters. A mild transient rise in intraocular pressure occurred in 3 out of 8 eyes. CONCLUSION: Diabetic macular edema involving the foveal center that presented during pregnancy responded promptly to intravitreal...

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

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Bello, Luca; Campadello, Paola; Barp, Andrea; Fanin, Marina; Semplicini, Claudio; Sorarù, Gianni; Caumo, Luca; Calore, Chiara; Angelini, Corrado; Pegoraro, Elena

2016-09-01

We performed a 1-year longitudinal study of Six Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and timed function tests in Becker muscular dystrophy (BMD). Skeletal muscle dystrophin was quantified by immunoblot. We grouped deletions ending on exon 45 ("del 45-x", n = 28) or 51 ("del x-51", n = 10); isolated exon 48 deletion ("del 48", n = 10); and other mutations (n = 21). Only patients in the "del 45-x" or "other" groups became non-ambulatory (n = 5, log-rank p = n.s.) or unable to run (n = 22, p dystrophy.

RECURRENT MACULAR HOLES IN THE ERA OF SMALL-GAUGE VITRECTOMY: A Review of Incidence, Risk Factors, and Outcomes.

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Abbey, Ashkan M; Van Laere, Lily; Shah, Ankoor R; Hassan, Tarek S

2017-05-01

To evaluate the preoperative features, intraoperative management, and postoperative outcomes of recurrent macular holes that developed after initial successful repair with small-gauge vitrectomy techniques. We retrospectively reviewed 392 eyes with idiopathic macular holes successfully treated with small-gauge vitrectomy. Thirteen of these eyes underwent reoperation after macular hole reopening. We assessed patient demographics, visual acuity, postoperative anatomical success, potential precipitating clinical factors of hole reopening, and details of the surgical repairs of these eyes. Macular hole reopening occurred in 13 (3.3%) of 392 eyes in a mean of 28 months (range, 1-120 months) after initial repair. All 13 recurrent holes closed after a second vitrectomy, but 4 (31%) holes reopened again and had vitrectomy. Of these, 2 reopened a third time. Ultimately, 11 (85%) holes were closed at the most recent follow-up. The mean best-corrected visual acuity was 20/81 before initial repair, 20/148 after the first reopening, 20/115 after repair of the first reopening, and 20/55 after repair of >1 reopening. Ten of 13 (77%) patients had, or later developed, macular holes in the other eye during follow-up. Reoperation successfully achieved hole closure and ultimate visual improvement in most eyes with recurrent macular holes. Most patients with recurrent holes previously had, or later developed, full-thickness macular holes in the other eye.

Serum Osteopontin as a Novel Biomarker for Muscle Regeneration in Duchenne Muscular Dystrophy.

Science.gov (United States)

Kuraoka, Mutsuki; Kimura, En; Nagata, Tetsuya; Okada, Takashi; Aoki, Yoshitsugu; Tachimori, Hisateru; Yonemoto, Naohiro; Imamura, Michihiro; Takeda, Shin'ichi

2016-05-01

Duchenne muscular dystrophy is a lethal X-linked muscle disorder. We have already reported that osteopontin (OPN), an inflammatory cytokine and myogenic factor, is expressed in the early dystrophic phase in canine X-linked muscular dystrophy in Japan, a dystrophic dog model. To further explore the possibility of OPN as a new biomarker for disease activity in Duchenne muscular dystrophy, we monitored serum OPN levels in dystrophic and wild-type dogs at different ages and compared the levels to other serum markers, such as serum creatine kinase, matrix metalloproteinase-9, and tissue inhibitor of metalloproteinase-1. Serum OPN levels in the dystrophic dogs were significantly elevated compared with those in wild-type dogs before and 1 hour after a cesarean section birth and at the age of 3 months. The serum OPN level was significantly correlated with the phenotypic severity of dystrophic dogs at the period corresponding to the onset of muscle weakness, whereas other serum markers including creatine kinase were not. Immunohistologically, OPN was up-regulated in infiltrating macrophages and developmental myosin heavy chain-positive regenerating muscle fibers in the dystrophic dogs, whereas serum OPN was highly elevated. OPN expression was also observed during the synergic muscle regeneration process induced by cardiotoxin injection. In conclusion, OPN is a promising biomarker for muscle regeneration in dystrophic dogs and can be applicable to boys with Duchenne muscular dystrophy. Copyright © 2016 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy

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Marshall, Jamie L.; Kwok, Yukwah; McMorran, Brian; Baum, Linda G.; Crosbie-Watson, Rachelle H.

2013-01-01

Three adhesion complexes span the sarcolemma and facilitate critical connections between the extracellular matrix and the actin cytoskeleton: the dystrophin- and utrophin-glycoprotein complexes and α7β1 integrin. Loss of individual protein components results in a loss of the entire protein complex and muscular dystrophy. Muscular dystrophy is a progressive, lethal wasting disease characterized by repetitive cycles of myofiber degeneration and regeneration. Protein replacement therapy offers a promising approach for the treatment of muscular dystrophy. Recently, we demonstrated that sarcospan facilitates protein-protein interactions amongst the adhesion complexes and is an important therapeutic target. Here, we review current protein replacement strategies, discuss the potential benefits of sarcospan expression, and identify important experiments that must be addressed for sarcospan to move to the clinic. PMID:23601082

Analysis of laser photocoagulation with cataract surgery for improvement of visual acuity and macular edema in patients with cataract and diabetic macular edema

Directory of Open Access Journals (Sweden)

Chao-Yu Wang

2016-02-01

Full Text Available AIM:To explore laser photocoagulation with cataract surgery for improvement of visual acuity and macular edema in patients with cataract and diabetic macular edema.METHODS:A total of 60 patients(72 eyesfrom January 2014 to July 2015 in our hospital were selected, which all were diagnosed as cataract with diabetic macular edema. According to a random number table method, the patients were divided into observation group and control group, 30 cases(36 eyesin each group. The observation group was treated with combination therapy of laser photocoagulation before cataract surgeries, while the control group with the combination therapy of laser photocoagulation after cataract surgeries. At 2mo after surgeries, some routine examination, such as visual acuity, fundus examination after mydriasis, slit lamp examination, optical coherence tomography(OCTexamination, fluorescence angiography examination(FFAfor retinal blood vessels were applied in all the patients. RESULTS:The visual acuity of the observation group and the control group before treatments was not significantly different(P>0.05. At 2mo after treatments, the visual inspection showed that compared with the visual acuity before treatment, the visual acuity of the two groups were both significantly improved(PPP>0.05. At 2mo after treatments, compared with those before treatments, the macular thickness of two groups were both significantly improved(PPCONCLUSION:The laser photocoagulation before cataract surgery for patients with cataract and diabetic macular edema can significantly improve their visual acuity and macular thickness.

Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury

Directory of Open Access Journals (Sweden)

Roman V. Deev

2017-07-01

Full Text Available Plectinopathies are orphan diseases caused by PLEC gene mutations. PLEC is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues. In this study, we describe the clinical case of a 26-year-old patient with an early onset plectinopathy variant “limb-girdle muscle dystrophy type 2Q,” report histopathological and ultrastructural findings in m. vastus lateralis biopsy and a novel homozygous likely pathogenic variant (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter in isoform 1f of the gene PLEC. The patient had an early childhood onset with retarded physical development, moderate weakness in pelvic girdle muscles, progressive weakening of limb-girdle muscles after the age of 21, pronounced atrophy of axial muscles, and hypertrophy of the gastrocnemius, deltoid, and triceps muscles, intermittent dyspnea, and no skin involvement. Findings included: non-infectious bronchiolitis and atelectasis signs, biopsy revealed myodystrophal pattern without macrophage infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss, incomplete reparative rhabdomyogenesis, and moderate endomysial fibrosis. We have determined a novel likely pathogenic variant in PLEC 1f isoform that causes limb-girdle muscle dystrophy type 2Q and described the third case concerning an isolated myodystrophic phenotype of LGMD2Q with the likely pathogenic variant in PLEC 1f isoform. In addition, we have demonstrated the presence of severe lung injury in a patient and his siblings with the same myodystrophic phenotype and discussed the possible role of plectin deficiency in its pathogenesis.

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.

Very early disease manifestations of macular telangiectasia type 2

NARCIS (Netherlands)

Issa, P.C.; Heeren, T.F.C.; Kupitz, E.H.; Holz, F.G.; Berendschot, T.T.J.M.

Background: To report very early morphologic and functional alterations in patients with macular telangiectasia type 2. Methods: Patients with asymmetric disease manifestations, in whom retinal alterations characteristic for macular telangiectasia type 2 were present in one but not in the apparently

What Is Macular Edema?

Medline Plus

Full Text Available ... a macular hole? Jan 11, 2016 After a person develops ocular histoplasmosis, is it common that years or even decades pass before the person notices the vision changes and the disease is ...

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Directory of Open Access Journals (Sweden)

Ana Cotta

2014-09-01

Full Text Available Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy.

Science.gov (United States)

Tatulli, F; Caraglia, A; Delcuratolo, A; Cassano, S; Chetta, G S

2017-01-01

Inguinal hernia repairs are routinely performed as outpatient procedures in most patients, whereas a few require admission due to clinical or social peculiarities. Muscular dystrophies are inherited disorders characterized by progressive muscle wasting and weakness. In case of surgery there is no definite recommendation for either general or regional anesthesia. This contribution regards a 48 y. o. male patient diagnosed with Becker Muscular Dystrophy by muscle biopsy 10 years earlier. He had a left-sided sizable inguinoscrotal hernia with repeat episodes of incarceration. An elective mesh repair with suction drainage was accomplished under selective spinal anesthesia. The post-operative course was uneventful. A few inguinal hernia repairs require admission due to peculiarities such as extensive scrotal hernias requiring suction drainage. Muscular dystrophies are inherited disorders with no cure and no two dystrophy patients are exactly alike, therefore the health issues will be different for each individual. In case of surgery there is no definite recommendation for either general or regional anesthesia. This contribution regards the successful elective mesh repair with suction drainage of a large left-sided inguino-scrotal hernia in a 48 y. o. male patient affected by Becker muscular dystrophy by selective spinal anesthesia obtained by 10 milligrams of hyperbaric bupivacaine. Effective mesh repair with suction drainage of large inguinal hernias under spinal anesthesia can be achieved in patients affected by muscular dystrophy.

Serum creatinine level: a supplemental index to distinguish Duchenne muscular dystrophy from Becker muscular dystrophy.

Science.gov (United States)

Zhang, Huili; Zhu, Yuling; Sun, Yiming; Liang, Yingyin; Li, Yaqin; Zhang, Yu; Deng, Langhui; Wen, Xingxuan; Zhang, Cheng

2015-01-01

To improve assessment of dystrophinopathy, the aim of this study was to identify whether serum creatinine (Crn) level reflects disease severity. Biochemical, Vignos score, and genetic data were collected on 212 boys with dystrophinopathy. Serum Crn level had a strong inverse correlation with Vignos score by simple correlation (r = -0.793) and partial correlation analysis after adjustment for age, height, and weight (r = -0.791; both P Becker muscular dystrophy (BMD) patients than Duchenne muscular dystrophy (DMD) patients at ages 4, 5, 7, and 9 yr (all P < 0.0125). After adjusting for age, height, and weight, BMD patients still had a significantly higher serum Crn level than DMD patients (β = 7.140,  t = 6.277,  P < 0.01). Serum Crn level reflected disease severity and may serve as a supplemental index to distinguish DMD from BMD in clinical practice.

Cardiac involvement in myotonic muscular dystrophy (Steinert's disease): a prospective study of 25 patients

International Nuclear Information System (INIS)

Perloff, J.K.; Stevenson, W.G.; Roberts, N.K.; Cabeen, W.; Weiss, J.

1984-01-01

The presence, degree and frequency of disorders of cardiac conduction and rhythm and of regional or global myocardial dystrophy or myotonia have not previously been studied prospectively and systematically in the same population of patients with myotonic dystrophy. Accordingly, 25 adults with classic Steinert's disease underwent electrocardiography, 24-hour ambulatory electrocardiography, vectorcardiography, chest x-rays, echocardiography, electrophysiologic studies, and technetium-99m angiography. Clinically important cardiac manifestations of myotonic dystrophy reside in specialized tissues rather than in myocardium. Involvement is relatively specific, primarily assigned to the His-Purkinje system. The cardiac muscle disorder takes the form of dystrophy rather than myotonia, and is not selective, appearing with approximately equal distribution in all 4 chambers. Myocardial dystrophy seldom results in clinically overt ventricular failure, but may be responsible for atrial and ventricular arrhythmias. Since myotonic dystrophy is genetically transmitted, a primary biochemical defect has been proposed with complete expression of the gene toward striated muscle tissue, whether skeletal or cardiac. Specialized cardiac tissue and myocardium have close, if not identical, embryologic origins, so it is not surprising that the genetic marker affects both. Cardiac involvement is therefore an integral part of myotonic dystrophy, targeting particularly the infranodal conduction system, to a lesser extent the sinus node, and still less specifically, the myocardium

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

NARCIS (Netherlands)

Hoogerwaard, EM; van der Wouw, PA; Wilde, AAM; Bakker, E; Ippel, PF; Oosterwijk, JC; Majoor-Krakauer, DF; van Essen, AJ; Leschot, NJ; de Visser, Marianne

A cross-sectional study in a cohort of DNA proven carriers of Duchenne (DMD) and Becker (BMD) muscular dystrophy was undertaken with the following objectives: (1) to estimate the frequency of electrocardiographic (ECG) and echocardiographic abnormalities; (2) to establish the proportion of carriers

Early phacoemulsification in diabetic cataract for early recognition and management of diabetic macular oedema

International Nuclear Information System (INIS)

Wahab, S.; Rab, K. F. U.; Hargun, L. D.

2013-01-01

Objective: To get optimal visualization of fundus by early phacoemulsification in diabetic cataract for early recognition and management of diabetic macular oedema. Study Design: Interventional study. Place and Duration of Study: Ophthalmology Unit III, Sindh Government Lyari General Hospital and Dow University of Health Sciences and Al-Noor Eye Hospital, Karachi, from July 2008 to June 2009. Methodology: Patients with uncontrolled type-II diabetes mellitus of more than 10 years of duration were selected. Patients with clinical significant macular oedema (CSME), non-proliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR) were excluded. Follow-up was done on day 1, 1 week, 1 month, 3 months and 6 months. Results: The male to female ratio was 1:1.44. Out of 218 patients; 129 (59.2%) were males and 89 (40.8%) were females. CSME was found in 82 patients (37.6%) at first postoperative week which declined to 29 cases (13.3%) at first month follow-up. Three subjects developed mild to moderate NPDR. In majority of the subjects, best corrected visual acuity (BCVA) gradually improved in each subsequent follow-up visit. Conclusion: Early phacoemulsification in diabetic cataract offers optimal posterior pole visualization and clears the ambiguity of decreased vision either caused by cataract or macular oedema. Uncomplicated phacoemulsification does not accelerate diabetic macular oedema or retinopathy provided glycemic control and co-morbids are well addressed. (author)

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.

Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1.

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Anna Pakula

Full Text Available OBJECTIVES: Cyclin A1 regulates cell cycle activity and proliferation in somatic and germ-line cells. Its expression increases in G1/S phase and reaches a maximum in G2 and M phases. Altered cyclin A1 expression might contribute to clinical symptoms in facioscapulohumeral muscular dystrophy (FSHD. METHODS: Muscle biopsies were taken from the Vastus lateralis muscle for cDNA microarray, RT-PCR, immunohistochemistry and Western blot analyses to assess RNA and protein expression of cyclin A1 in human muscle cell lines and muscle tissue. Muscle fibers diameter was calculated on cryosections to test for hypertrophy. RESULTS: cDNA microarray data showed specifically elevated cyclin A1 levels in FSHD vs. other muscular disorders such as caveolinopathy, dysferlinopathy, four and a half LIM domains protein 1 deficiency and healthy controls. Data could be confirmed with RT-PCR and Western blot analysis showing up-regulated cyclin A1 levels also at protein level. We found also clear signs of hypertrophy within the Vastus lateralis muscle in FSHD-1 patients. CONCLUSIONS: In most somatic human cell lines, cyclin A1 levels are low. Overexpression of cyclin A1 in FSHD indicates cell cycle dysregulation in FSHD and might contribute to clinical symptoms of this disease.

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 ...

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

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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

Macular hole surgery with short-acting gas and short-duration face-down positioning

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Xirou T

2012-07-01

Full Text Available Tina Xirou,1 Panagiotis G Theodossiadis,2 Michael Apostolopoulos,3 A Stamatina Kabanarou,1 Elias Feretis,1 Ioannis D Ladas,3 Chrysanthi Koutsandrea31Vitreoretinal Unit, Red Cross Hospital, 2B Department of Ophthalmology, University of Athens, Greece; 3A Department of Ophthalmology, University of Athens, GreecePurpose: To report on the outcomes of vitrectomy and sulfur hexafluoride (SF6 gas tamponade for idiopathic macular holes with 2 days of face-down positioning.Patients and methods: This was a prospective, nonrandomized, observational sequential case-series study on 23 consecutive patients receiving macular hole surgery using 20% SF6 and advised to stay in a face-down position for 2 days postoperatively (SF6 group. These patients were compared to 23 consecutive patients who had previously undergone macular hole surgery, had received 14% C3F8, and were advised to maintain a face-down position for 2 days (C3F8 group. Patients in both groups underwent vitrectomy, internal limiting membrane peeling, and fluid gas exchange using either SF6 or C3F8. Preoperative and postoperative data included best corrected visual acuity recorded in LogMAR units, slit-lamp biomicroscopy, and optical coherence tomography.Results: At a 6-month follow-up, macular hole closure was noted in 23/23 eyes (100% and in 22/23 eyes (96% in the SF6 and C3F8 groups, respectively. The improvement in visual acuity (measured through Snellen acuity lines both preoperatively until 6 months postoperatively was 4.08 ± 2.31 (95% confidence interval [CI]: 3.08–5.08 for the SF6 group and 2.87 ± 2.30 (95% CI: 1.87–3.86 for the C3F8 group; this difference was not statistically significant (P = 0.06.Conclusion: Vitrectomy with internal limiting membrane peeling and a short-acting gas tamponade using SF6 with posture limitation for 2 days may give a high success rate in macular hole surgery.Keywords: idiopathic macular holes, SF6 gas tamponade, C3F8 gas tamponade

Distrofia retiniana com onda rápida escotópica (DRORE associada à síndrome dos cabelos anágenos frouxos (SCAF. Parte II: Genética Scotopic fast wave retinal dystrophy (SFWRD associated with loose anagen hair syndrome (LAHS. Part II: Genetics

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Mário Teruo Sato

2004-08-01

Full Text Available OBJETIVOS: Propor complementação da atual classificação do eletrorretinograma (ERG com a inclusão deste novo tipo de onda, discutir os possíveis mecanismos para a distrofia retiniana com onda rápida escotópica (DRORE associada à síndrome dos cabelos anágenos frouxos (SCAF e análise do heredograma da família estudada. MÉTODO: Foram descritos na parte I deste trabalho. RESULTADOS: A análise do heredograma da família demonstrou tratar-se de herança autossômica recessiva com expressão parcial no heterozigoto; outros resultados foram descritos na parte I deste trabalho. CONCLUSÕES: Por se tratar do primeiro relato na literatura, os achados descritos sugerem fortemente que a distrofia retiniana com onda rápida escotópica associada à síndrome dos cabelos anágenos frouxos pode ser uma nova entidade nosológica. Neste trabalho propomos uma classificação inédita de todas as distrofias maculares e degenerações retinianas associadas a distúrbios capilares no grupo B das displasias ectodérmicas.PURPOSE: To propose the complementation of present classification of the electroretinogram (ERG with the inclusion of this new kind of wave, to discuss the possible mechanisms for the scotopic fast wave retinal dystrophy (SFWRD associated with the loose anagen hair syndrome (LAHS and to analyze the pedigree of the studied family. METHODS: Were described in part I of this study. RESULTS: The pedigree analysis of the family showed to be an autosomal recessive form of inheritance with partial expression in the heterozygote; other results were described in part I of this study. CONCLUSION: Being the first account in the literature, the described finding strongly suggests that scotopic fast wave retinal dystrophy associated with the loose anagen hair syndrome can be a new nosological entity. In this study, we propose an unpublished classification of all macular dystrophies and retinal degenerations associated with hair disorders in group B

Intravitreal triamcinolone for intraocular inflammation and associated macular edema

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Steven M Couch

2008-11-01

Full Text Available Steven M Couch, Sophie J BakriMayo Clinic Department of Ophthalmology, Mayo Clinic, Rochester, MN, USAAbstract: Triamcinolone acetonide (TA is a corticosteroid that has many uses in the treatment of ocular diseases because of its potent anti-inflammatory and anti-permeability actions. Intraocular inflammation broadly referred to as uveitis can result from several causes, including the immune system and after ophthalmic surgery. One of the most common reasons for vision loss with uveitis is macular edema. TA has been used for many years as an intravitreal injection for the treatment of ocular diseases. Several case control studies have been reported showing the efficacy of TA in the treatment of intraocular inflammation and associated macular edema caused by Behcet’s disease, Vogt-Koyanagi-Harada syndrome, sympathetic ophthalmia and white dot syndromes. It has also been shown efficacious in cases of pars planitis and idiopathic posterior uveitis. Some authors have reported its use in postoperative cystoid macular edema. Many of the studies on the use of TA in controlling intraocular inflammation and concomitant macular edema showed its effect to be transient in many patients requiring reinjection. Complications can arise from intravitreal injection of TA including elevated intraocular pressure and cataract. Rarely, it can be associated with infectious and non-infectious endophthalmitis. TA may be useful as an adjuvant in the treatment of uveitis and its associated macular edema, especially in patients resistant or intolerant to standard treatment.Keywords: triamcinolone acetonide, Behcet’s disease, sympathetic ophthalmia, Vogt-Koyanagi-Harada syndrome, white dot syndromes, uveitis, cataract surgery, macular edema, endophthalmitis

Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1.

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Zhang, Chun-Li; Zou, Yuhua; Yu, Ruth T; Gage, Fred H; Evans, Ronald M

2006-05-15

During mammalian embryogenesis, precise coordination of progenitor cell proliferation and differentiation is essential for proper organ size and function. The involvement of TLX (NR2E1), an orphan nuclear receptor, has been implicated in ocular development, as Tlx-/- mice exhibit visual impairment. Using genetic and biochemical approaches, we show that TLX modulates retinal progenitor cell proliferation and cell cycle re-entry by directly regulating the expression of Pten and its target cyclin D1. Additionally, TLX finely tunes the progenitor differentiation program by modulating the phospholipase C and mitogen-activated protein kinase (MAPK) pathways and the expression of an array of cell type-specific transcriptional regulators. Consequently, Tlx-/- mice have a dramatic reduction in retina thickness and enhanced generation of S-cones, and develop severe early onset retinal dystrophy. Furthermore, TLX interacts with atrophin1 (Atn1), a corepressor that is involved in human neurodegenerative dentatorubral-pallidoluysian atrophy (DRPLA) and that is essential for development of multiple tissues. Together, these results reveal a molecular strategy by which an orphan nuclear receptor can precisely orchestrate tissue-specific proliferation and differentiation programs to prevent retinal malformation and degeneration.

Outcome of Treatment of Uveitic Macular Edema: The Multicenter Uveitis Steroid Treatment Trial 2-Year Results.

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Tomkins-Netzer, Oren; Lightman, Susan; Drye, Lea; Kempen, John; Holland, Gary N; Rao, Narsing A; Stawell, Richard J; Vitale, Albert; Jabs, Douglas A

2015-11-01

To evaluate the 2-year outcomes of uveitic macular edema. Longitudinal follow-up of a randomized cohort. At baseline, 148 eyes of 117 patients enrolled in the Multicenter Uveitis Steroid Treatment (MUST) Trial had macular edema, and 134 eyes of 108 patients completed 2-year follow-up. Patients enrolled in the study were randomized to either systemic immunosuppression or intravitreal fluocinolone acetonide implant therapy. Macular edema was defined as thickening of the retina (center point thickness≥240 μm) on time-domain optical coherence tomography (OCT) of macula. Improvement in macular edema (≥20% reduction in central point thickness on OCT), resolution of macular edema (normalization of thickness on OCT), and best-corrected visual acuity (BCVA). Between randomization and 2-years' follow-up, 62% and 25% of eyes in the systemic and implant groups, respectively, received at least 1 supplemental regional corticosteroid injection. By 2-years' follow-up, macular edema improved in 71% of eyes and resolved in 60%. There were no differences between treatment groups in the proportion of eyes with macular edema improving (systemic therapy vs. implant, 65% vs. 77%; P=0.20) and resolving (52% vs. 68%; P=0.28), but eyes randomized to implant had more improvement in macular thickness (median decrease of 180 vs. 109 μm in the systemic therapy group; P=0.04). Eyes with baseline fluorescein angiographic leakage were more likely to improve than those without (76% vs. 58%; P=0.03). Overall, there was a mean 5-letter (1 line) improvement in BCVA at 2 years. Mean changes in BCVA from baseline at 2 years by macular edema response status were: resolution, +10 letters; improvement without resolution, +10 letters (P=0.92); little to no change, 6 letters (P=0.19); and worsening, -16 letters (worsening acuity; P=0.0003). About two thirds of eyes with uveitic macular edema were observed to experience improvement in the edema and visual acuity with implant or systemic treatment

What Is Macular Edema?

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Full Text Available ... the most common form of vision loss for people with diabetes—particularly if it is left untreated. ... a macular hole? Jan 11, 2016 After a person develops ocular histoplasmosis, is it common that years ...

Effect of acute postural variation on diabetic macular oedema

DEFF Research Database (Denmark)

Vinten, Martin; la Cour, Morten; Lund-Andersen, Henrik

2010-01-01

This study aimed to study the pathophysiology of diabetic macular oedema (DMO) by analysis of concomitant changes in macular volume (MV), mean arterial blood pressure (MABP), intraocular pressure (IOP), and retinal artery and vein diameters in response to acute postural changes in patients with DMO...

Interocular agreement in melanin and macular pigment optical density.

NARCIS (Netherlands)

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

2007-01-01

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

Clinical efficacy of Ranibizumab in the treatment of wet age-related macular degeneration

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Ling-Jun Wei

2017-12-01

Full Text Available AIM:To analyze the clinical efficacy of Ranibizumab in the treatment of wet age-related macular degeneration(ARMD.METHODS: Clinical data of patients with wet age-related macular degeneration received treatment of ranibizumab at our hospital from 2015 to 2017 were analyzed. At 1mo after treatment, the clinical efficacy, ocular hemodynamics and ocular inflammation were evaluated. RESULTS: A total of 41 patients were analyzed. After treatment, patients got significantly increased in LogMAR(0.651±0.067 vs 0.321±0.049; t=25.460, Pvs 452.9±69.8μm; t=15.740, Pvs 16.1±3.5ng/L; t=3.563, Pvs 13.8±2.5ng/L; t=3.467, PP>0.05. CONCLUSION: In the treatment of wet age-related macular degeneration, the ranibizumab shows a good therapeutic effect without serious adverse drug reactions.

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

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Abed, Edoardo; Placidi, Giorgio; Calandriello, Luigi; Piccardi, Marco; Campagna, Francesca; Bertelli, Matteo; Minnella, Angelo Maria; Savastano, Maria Cristina; Falsini, Benedetto

2017-01-01

Stargardt disease (STGD1) is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment epithelium. The aim of this study was to evaluate the relationship between cone photoreceptor function and structure in STGD1. Macular function was assessed by visual acuity measurement and focal electroretinogram (FERG) recording while spectral domain optical coherence tomography (SD-OCT) imaging was performed to evaluate the integrity of photoreceptors. FERG amplitude was significantly reduced in patients with Stargardt disease ( p clinical trials to treat this disease.

Prednisone Therapy for Duchenne Dystrophy

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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.

Inherited myopathies and muscular dystrophies

NARCIS (Netherlands)

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

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

Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

NARCIS (Netherlands)

Linssen, W. H.; Notermans, N. C.; van der Graaf, Y.; Wokke, J. H.; van Doorn, P. A.; Höweler, C. J.; Busch, H. F.; de Jager, A. E.; de Visser, M.

1997-01-01

Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings.

Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

NARCIS (Netherlands)

W.H.J.P. Linssen (Wim); N.C. Notermans (Nicolette); Y. van der Graaf (Yolanda); J.H.J. Wokke (John); P.A. van Doorn (Pieter); C.J. Höweler (Chris); H.F.M. Busch (Herman); A.E.J. de Jager (Aeiko); M. de Visser (Marianne)

1997-01-01

textabstractMiyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history muscle CT-scans and muscle biopsy

Miyoshi-type distal muscular dystrophy - Clinical spectrum in 24 Dutch patients

NARCIS (Netherlands)

Linssen, WHJP; Notermans, NC; VanderGraaf, Y; Wokke, JHJ; VanDoorn, PA; Howeler, CJ; Busch, HFM; DeJager, AEJ; DeVisser, M

1997-01-01

Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings.

Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy.

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James, Katherine A; Cunniff, Christopher; Apkon, Susan D; Mathews, Katherine; Lu, Zhenqiang; Holtzer, Caleb; Pandya, Shree; Ciafaloni, Emma; Miller, Lisa

2015-09-01

Fractures are a significant concern for individuals with Duchenne/Becker muscular dystrophy with 21% to 44% of males experiencing a fracture. Factors that increase or decrease the risk for fracture have been suggested in past research, although statistical risk has not been determined. In this retrospective cohort study, we used the Muscular Dystrophy Surveillance, Tracking and Research Network cohort, a large, population-based sample to identify risk factors associated with first fractures in patients with Duchenne or Becker muscular dystrophy. Our study cohort included males with Duchenne or Becker muscular dystrophy born between 1982 and 2006 who resided in Arizona, Colorado, Georgia, Iowa, and Western New York, retrospectively identified and followed through 2010. We utilized a multivariate Cox proportional hazard model to determine hazard ratios for relevant factors associated with first fracture risk including race/ethnicity, surveillance site, ambulation status, calcium/vitamin D use and duration, bisphosphonate use and duration, and corticosteroid use and duration. Of 747 cases, 249 had at least 1 fracture (33.3%). Full-time wheelchair use increased the risk of first fracture by 75% for every 3 months of use (hazard ratio=1.75, 95% confidence interval, 1.14, 2.68), but corticosteroid use, bisphosphonate use, and calcium/vitamin D use did not significantly affect risk in the final adjusted model. In this cohort, first fractures were common and full-time wheelchair use, but not corticosteroid use, was identified as a risk factor. The impact of prevention measures should be more thoroughly assessed. Fractures are a significant concern for individuals with dystrophinopathies, but the contribution of various risk factors has not been consistently demonstrated.

Three-dimensional brain-surface MR images of brain anomalies in Fukuyama congenital muscular dystrophy and its differentiation from Duchenne muscular dystrophy with severe mental retardation

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Toda, Tatsushi; Watanabe, Toshiaki; Shimizu, Teruo; Iwata, Makoto; Kanazawa, Ichiro (Tokyo Univ. (Japan). Faculty of Medicine); Matsumura, Kiichiro

1993-12-01

Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in Japan and is peculiarly associated with brain anomalies such as micropolygyria. Since these anomalies are preferentially observed on the brain surface, it is difficult to identify them by either X-ray CT or conventional MRI. In addition, FCMD has an atypical (mild) form in which the patients are capable of walking. In such cases, clinical differential diagnosis from Duchenne muscular dystrophy with severe mental retardation (DMD-MR) is not necessarily easy. We analyzed the brain-surface structures of 4 typical FCMD cases. 1 atypical FCMD case, 4 DMD-MR cases, and 1 undiagnosed case using a method of 3-dimensional (3-D) brain-surface MR imaging; we then compared the results with dystrophin immuno-stainings of the biopsied skeletal muscles. In both typical and atypical FCMD cases, micropolygyria could be clearly demonstrated, with individual variations. The 3-D images were verified by neuropathology. Of the 4 DMD-MR cases, 3 cases showed no gyral abnormality. However, in 1 DMD-MR case the diagnosis was corrected to atypical FCMD because of micropolygyria found on 3-D MRI. The one undiangosed case was diagnosed as DMD-MR on the basis of 3-D MRI. There was a good correspondence between the results of the 3-D imaging and the dystrophin test. Recently, some FCMD cases with a complete deficiency of dystrophin have been reported. Therefore, the detection of brain anomalies is important for the precise diagnosis of FCMD; the present method is considered effective for this purpose. (author).