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[Essentials in Ophthalmology] Advances in Vision Research, Volume II (Genetic Eye Research in Asia and the Pacific) || Genetics and Susceptibility of Retinal Eye Diseases in India
摘要: As per the World Health Organization, genetic eye disorders are one of the top ten major causes of global ocular health burden. AMD and DR take major share of the adult eye diseases component that particularly affects the neurovascular retina. More than 100 genes are known to cause Mendelian types of retinal degenerations including syndromic and non-syndromic RP, and it is presumed that this constitutes only 60% of all the genes known so far, and the remaining are yet to be identified. The burden of genetic disorders in India is significant, and very many significant genes like RPE65 have been identified with consanguineous autosomal recessive pedigrees obtained from this region.
关键词: Visual cycle,Phototransduction pathway,Stargardt disease,Retinitis pigmentosa,Leber congenital amaurosis
更新于2025-09-23 15:21:21