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 of RPE65-associated inherited retinopathy and RLBP1-associated pathology in Russia.
MATERIAL AND METHODS
This noninterventional cohort study was conducted using retrospective data collected from patients with LCA and RP phenotypes in Russia and annual prospective follow-up of patients with IRDs caused by biallelic mutations in the RPE65 or RLBP1 genes. The registry was formed between July 20, 2022 and March 3, 2025. Eligible participants were entered into the database, followed by a two-stage genetic diagnostic algorithm to confirm biallelic mutations in the RPE65 or RLBP1 genes. The data were entered into standardized electronic case report forms, verified, and analyzed using descriptive statistical methods.
RESULTS
The study included 2425 patients from 83 regions of the Russian Federation diagnosed with IRDs. The majority of patients were from Moscow, the Moscow Region, the Republic of Dagestan, the Republic of Tatarstan, Saint Petersburg, and the Republic of Bashkortostan. The mean age was 23.22±16.74 years, pediatric patients accounted for 51.34% of analyzed cases. Females and males comprised 47.01% and 52.99% of the cohort, respectively. In patients with confirmed biallelic mutations in the RPE65 gene, disease onset was characterized by nyctalopia (47.5%), nystagmus (40%), pigment redistribution (40%), non-recordable/extinguished electroretinogram (45.0%), and prolonged dark adaptation (35.0%). Mean best-corrected visual acuity was reduced (OD: 0.14±0.12; OS: 0.15±0.13), while central retinal thickness in the foveal region remained relatively preserved (OD: 178.70±38.43 µm; OS: 179.17±35.97 µm).
CONCLUSION
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.
