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

V.V. Kadyshev; A. V. Stepanova; K.K. Shefer; I.V. Kondrashina; O.A. Shchagina

doi:10.17116/oftalma202614201179

March 18, 2026Russian Annals of Ophthalmology

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

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Key Points

The aim is to describe the clinical and demographic characteristics of patients with inherited retinal dystrophies linked to RPE65 and RLBP1 mutations.
Multicenter registry study
Evaluation of clinical characteristics
Assessment of social and demographic data
Detailed description of key clinical characteristics of the IRD cohort
Insight into social and demographic traits of affected individuals
Identification of specific patient needs based on demographic factors

Implication

Multicenter study evaluates clinical and demographic traits of inherited retinal pathologies, suggesting important insights for treatment.

Abstract

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

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Cite This Study

Kadyshev et al. (2026) studied this question.

synapsesocial.com/papers/69be38ee6e48c4981c6799eb https://doi.org/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

Key Points

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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