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Genetics And Susceptibility Of Retinal Eye Diseases In India

ADVANCES IN VISION RESEARCH, VOL II: GENETIC EYE RESEARCH IN ASIA AND THE PACIFIC(2019)

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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.
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关键词
Leber congenital amaurosis, Phototransduction pathway, Retinitis pigmentosa, Stargardt disease, Visual cycle
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