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
doaj +1 more source
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
doaj +1 more source
The phenotypic variability of HK1-associated retinal dystrophy
Scientific Reports, 2017 Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Zhisheng Yuan +12 more
doaj +1 more source
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
core +1 more source
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
core +2 more sources
Fundus Autofluorescence in Inherited Retinal Disease: A Review
CellsFundus autofluorescence (FAF) is a non-invasive retinal imaging technique that helps visualize naturally occurring fluorophores, such as lipofuscin, and provides valuable insight into retinal diseases—particularly inherited retinal diseases (IRDs).
Jin Kyun Oh +3 more
doaj +1 more source
Loss of synchronized retinal phagocytosis and age-related blindness in mice lacking alphavbeta5 integrin. [PDF]
, 2004 Daily phagocytosis by the retinal pigment epithelium (RPE) of spent photoreceptor outer segment fragments is critical for vision. In the retina, early morning circadian photoreceptor rod shedding precedes synchronized uptake of shed photoreceptor ...
Brodie, Scott E +5 more
core +1 more source
Epidemiology of blindness in children [PDF]
, 2017 An estimated 1.4 million of the world’s children are blind. A blind child is more likely to live in socioeconomic deprivation, to be more frequently hospitalised during childhood and to die in childhood than a child not living with blindness. This update
Rahi, J, Solebo, AL, Teoh, L
core
Clinical assessment of rod-cone dystrophy patients carrying rhodopsin mutations [PDF]
, 2011 Trabalho de projecto de mestrado em Medicina (Oftalmologia), apresentado à Faculdade de Medicina da Universidade de CoimbraRod-cone dystrophies (RCD) are a heterogeneous group of genetic retinal disorders characterized by the progressive loss of rod and ...
Beato, João Nuno Bicho
core
Exploring Molecular Pathways in Refractive Errors Associated with Inherited Retinal Dystrophies
Frontiers in Bioscience-LandmarkThe term inherited retinal dystrophies (IRDs) refers to a diverse range of conditions characterized by retinal dysfunction, and mostly deterioration, leading to a gradual decay of the visual function and eventually to total vision loss.
Fabiana D’Esposito +9 more
doaj +1 more source