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

20260 citationsJournal Article

Authors

V.V. Kadyshev · Research Centre for Medical Genetics

A. V. Stepanova · Research Centre for Medical Genetics

K.K. Shefer · Intersectoral Research and Technology Complex Eye Microsurgery

I.V. Kondrashina · Novartis (Netherlands)

O.A. Shchagina · Research Centre for Medical Genetics

Abstract

The study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the <i>RPE65</i> and <i>RLBP1</i> genes in Russia (REGINA)" allowed evaluation of a representative IRD cohort, providing a detailed description of key clinical, social, and demographic characteristics.

Topics & Keywords

Retinal Development and Disorders Genomics and Rare Diseases Retinopathy of Prematurity Studies

Publication Details

Published in: Russian Annals of Ophthalmology

Volume 142, Issue 1, pp. 79-79

DOI: 10.17116/oftalma202614201179

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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

Authors

Abstract

Topics & Keywords

Publication Details