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 1. Molecular genetic 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 primary objective of the study was to investigate and describe the molecular genetic characteristics of patients with inherited retinal dystrophies (IRDs) presenting with phenotypes of Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP), taking into account clinical polymorphism. MATERIAL AND METHODS: This noninterventional cohort study was conducted in Russia by collecting retrospective...
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