Article
[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies].
Vestnik oftalmologii - 1 Jan 2026
Kadyshev V V, Stepanova A A, Shefer K K, Kondrashina I V, Shchagina O A
Abstract excerpt
PURPOSE: The secondary objectives of the study were to describe the sociodemographic and clinical characteristics of patients with inherited retinal dystrophy (IRD) phenotypes, including Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), to characterize the diagnostic and treatment pathways of patients with confirmed biallelic mutations in the RPE65 and/or RLBP1 genes, and to estimate the prevalence...
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