Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa

• DOI: 10.3346/jkms.2025.40.e54
• Publication Date: 2024-12-13T05:01:02Z
• Authors: Hyo Song Park; Kyung Kim; Dongwook Lee; Jong-Young Lee; Jeong Nam Choi; Jin Ha Kim; Jung Woo Han; Tae Kwann Park
• Keywords: Exome

Because of the low prevalence inherited retinal diseases, reports on distribution retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim this study was to determine mutation spectrum and allele frequency observe final diagnoses a cohort clinically diagnosed with RP. We used whole-exome sequencing (WES) analyze 100 unrelated possible pathogenicity each variant assessed based guidelines American College Medical Genetics Genomics Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, inheritance patterns. Definite causative were detected 60/100 (60.0%). Of these 60 cases, USH2A most common gene (14/60, 23.3%), followed by EYS (13/60, 21.7%) RP1 (6/60, 10.0%). diagnosis redefined 9 probands (15.0%) after WES. Five (8.3%) carried CHM, as choroideremia. Leber congenital amaurosis 2/60 (3.3%), RDH12 RPGRIP1 patient. One patient (1/60, 1.7%) Bietti's crystalline dystrophy, CYP4V2 identified gene. In another 1.7%), ABCA4 variants findings suggestive cone-rod dystrophy. This mutational RP who referred genetic testing. adds valuable data regarding well their relation age symptom onset other degenerations.