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

20261 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" allowed characterization of the key molecular genetic features of a representative sample of patients with IRDs.

Topics & Keywords

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

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Russian Annals of Ophthalmology

Volume 142, Issue 1, pp. 70-70

DOI: 10.17116/oftalma202614201170

Field-Weighted Citation Impact: 25.38