Genetic Characteristics of 63 Patients with Non-syndromic Retinitis Pigmentosa at a Single Korean Institution
10.3341/jkos.2025.66.1.36
- Author:
Sa Ra KIM
1
;
Jae Hui KIM
;
Won Tae YOON
;
Young Ju LEW
Author Information
1. Kim’s Eye Hospital, Seoul, Korea
- Publication Type:Original Article
- From:Journal of the Korean Ophthalmological Society
2025;66(1):36-44
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Purpose:To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution.
Methods:We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations.
Results:Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively).
Conclusions:EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.
