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

Key Points

• This research aims to characterize the molecular genetic features of inherited retinal dystrophies (IRDs) linked to RPE65 and RLBP1 mutations.
• Conducted multicenter study across various locations in Russia
• Analyzed genetic data from patients with inherited retinal dystrophies
• Focused on mutations in RPE65 and RLBP1 genes
• Characterized key molecular genetic features related to IRDs
• Established a representative sample of patients affected by biallelic mutations in RPE65 and RLBP1