retinal dystrophies
Antisense-mediated splicing correction approaches for retinal dystrophies and dysfunctions
... Retinal dystrophies are an extremely diversified group of genetic diseases all characterized by visual dysfunctions that, in the worst cases, can lead to ...nonsyndromic retinal dystrophies ...
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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
... Schematic representation of three major pro- cesses in human rod photoreceptor cells and the RPE. Upper panel: The retinoid cycle tak- ing place in rod photoreceptor cells (PC) and the RPE. Upon photactivation, ...
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Retro-mode imaging and fundus autofluorescence with scanning laser ophthalmoscope of retinal dystrophies
... Our results reveal that RMI is also able to detect ab- normalities in retinal dystrophies. In particular, the main finding of RMI is a pseudo-3D pattern of all the lesions at the posterior pole. Any ...
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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
... Additional file 2: Figure S1. Normalized melt curves and difference plots of five CRB1 variants used for standardization. Blue curves represent wild-type HRM profiles, except for the p.Cys948Tyr variant. Figure S2. ...
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Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians
... metabolic retinal dystrophies were not ...isolated retinal dystrophy was confirmed by retrospective analysis of medical records and ...diagnosed retinal dysfunction even in patients without a ...
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A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies
... We show that IRD individ- uals have reduced AV processing and/or integration of multisensory cues, consistent with their impaired uni- modal visual input, and those IRD patients demonstr[r] ...
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Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies
... In this study, we had the chance to evaluate pathogenic variants in the context of clinical presentations in these patients. We determined that 38 out of 67 probands had consistent clinical correlations (56.7%, Table 1). ...
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Genotype-phenotype correlation in the inherited retinal dystrophies
... peripheral retinal telangiectasis, primarily, but not exclusively, affecting the inferior ...serous retinal detachments that progressed to involve the macula in each ...
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Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees
... Retinitis pigmentosa (RP, MIM: 268000), the most com- mon form of inherited retinal degenerations, affects over one million individuals globally [1, 2]. Night blind- ness is usually the initial symptom for RP, ...
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Dietary profile of patients with Stargardt’s disease and Retinitis Pigmentosa: is there a role for a nutritional approach?
... a retinal carotenoid, increases macula pigment density but it seems not to be associated with changes in central vision over a 6 months-follow up period ...a retinal carotenoid, seems to slow visual ...
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Cone rod dystrophies
... rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary ...by retinal pigment deposits visible on fundus examination, ...
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Coat’s like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options
... with retinal dystrophies, decision was made to perform pan-retinal photocoagulation (PRP) over the inferior detached retina in the left eye with close follow up, and only close fol- low up in the ...
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Recent advances and future prospects in choroideremia
... the retinal architecture and function are still ...other retinal dystrophies, counseling of patients in clinics should include information on current results of gene replacement ...causing ...
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Review Article Pathogenesis of stromal corneal dystrophies
... Stromal corneal dystrophies (CDs) are charac- terized by the aberrant depositions mainly in the stroma. Most of them are caused by the gene mutations in UBIAD1, SLRP, PIP5K3, and CHST6. The mutant genes (CHST6) ...
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Assessment of disease activity in muscular dystrophies by noninvasive imaging
... Muscular dystrophies are a class of inherited muscle disorders that are characterized by progressive muscle weakness and wast- ...muscular dystrophies, including gene ther- apies and small molecule ...
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MYOTONIC DYSTROPHY – A REVIEW
... Other dystrophies are inherited through autosomal dominate traits, meaning the mutated gene is dominate in one of the 22 chromosomes (excluding the 23rd sex chromosome), equally affecting both males and ...The ...
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Obesity, Blood Pressure, and Retinal Vessels: A Meta-analysis
... that retinal vessel imaging during childhood development has a prognostic value for the adult clinical outcome of pediatric ...of retinal vessel diameters for cardiovascular risk development in children and ...
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Pentacam-based phototherapeutic keratectomy outcome in superficial corneal opacities
... All cases of corneal disease that underwent PTK from 2007 to 2011 were reviewed retrospectively from medical records. Details were noted regarding preoperative full history and ophthalmological examination, including ...
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... The aim of our study was to determine the role of dystrophin hydrophobic regions in the pathogenesis of Duchenne (DMD) and Becker (BMD) muscular dystrophies, by the Kyte-Doolittle scale mean hydrophobicity profile ...
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The role of lipids in corneal diseases and dystrophies: a systematic review
... When injury or disease proceeds, it can lead to cor- neal opacities or even blindness through the disor- dering of the extracellular matrix [7]. The corneal endothelial monolayer of cells is the primary contributor to ...
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