Results 121 to 130 of about 15,997 (234)
Adult-onset Foveomacular Vitelliform Dystrophy
OkulistykaAdult-onset foveomacular vitelliform dystrophy is one of the most common macular dystrophies, classified within the group of pattern dystrophies. The condition typically arises after the fourth decade of life and manifests with subretinal vitelliform ...
Michał Jabłoński, Jerzy Mackiewicz
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A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa. [PDF]
, 2013 PURPOSE: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness.
Chouchane, I. +6 more
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[Gene therapy for retinal dystrophies].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2012 Genetic mutations are the cause of inherited retinal dystrophies. The underlying genetic basis of these diseases suggests that a gene therapy approach is logical either to replace or reduce the expression of defective genes. The first proof-of-concept clinical studies in patients with Leber's congenital amaurosis have suggested that retinal gene ...
Issa, P, Groppe, M, MacLaren, R
openaire +3 more sources
Translational Retinal Research and Therapies. [PDF]
, 2018 The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D +7 more
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Indian Journal of OphthalmologyVascular endothelial growth factor (VEGF) plays a central role in the pathogenesis of retinal and choroidal neovascularization, as well as macular edema (ME), in retinal disorders such as diabetic retinopathy, retinal vein occlusion (RVO), and age ...
Shalini Singh +3 more
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Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. [PDF]
, 2013 BackgroundMany genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare ...
Gorin, Michael B, Strom, Samuel P
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Epigenetic regulation of gene expression in rare inherited retinal disorders
Frontiers in GeneticsThe retina is a highly specialized neural tissue characterized by extreme cellular differentiation, high metabolic demand, and lifelong exposure to environmental stressors.
Feliciana Menna +5 more
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BiomedicinesBackground: Retinal and optic nerve disorders are a leading cause of irreversible visual impairment worldwide. Advances in molecular genetics—including next-generation sequencing, genome-wide association studies, and gene-based therapeutic technologies ...
Feliciana Menna +6 more
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Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication
JCI InsightHereditary macular dystrophies (HMDs) are a genetically diverse group of disorders that cause central vision loss due to photoreceptor and retinal pigment epithelium (RPE) damage.
Rabiat Adele +22 more
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The importance of electrophysiological and imaging methods in the diagnostics of inherited retinal degenerations: Genotype-phenotype correlations [PDF]
, 2015 Zobor, Annamária Ditta
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