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Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin

 Young Hoon Jung  ;  Jay Jiyong Kwak  ;  Kwangsic Joo  ;  Hyuk Jun Lee  ;  Kyu Hyung Park  ;  Min Seok Kim  ;  Eun Kyoung Lee  ;  Suk Ho Byeon  ;  Christopher Seungkyu Lee  ;  Jinu Han  ;  Junwon Lee  ;  Chang Ki Yoon  ;  Se Joon Woo 
 FRONTIERS IN GENETICS, Vol.14 : 1240067, 2023-08 
Journal Title
Issue Date
Koreans ; generalized retinitis pigmentosa ; retinitis pigmentosa ; rhodopsin ; sector retinitis pigmentosa
Purpose: To investigate the clinical features, natural course, and genetic characteristics of Koreans with rhodopsin-associated retinitis pigmentosa (RHO-associated RP).

Design: We conducted a retrospective, multicenter, observational cohort study.

Participants: We reviewed the medical records of 42 patients with RHO-associated RP of 36 families who visited 4 hospitals in Korea.

Methods: Patients with molecular confirmation of pathogenic variants of the RHO gene were included. The patients were divided into two subgroups: the generalized and sector RP groups. A central visual field of the better-seeing eye of <10° or a best-corrected visual acuity of the better-seeing eye <20/40 indicated the progression to late-stage RP.

Results: The mean age at which symptoms first appeared was 26.3 ± 17.9 years (range: 8-78 years), and the mean follow-up period was 80.9 ± 68.7 months (range: 6-268 months). At the last follow-up visit, the generalized RP group showed a significantly higher rate of visual field impairment progression to late-stage RP than that of the sector RP group (22 of 35 [62.9%] vs. 0 of 7 [0.0%], p = 0.003). No cases in the sector RP group progressed to generalized RP. Best-corrected visual acuity deterioration to late-stage RP was observed only in the generalized RP group (13 of 35 patients; 37.1%), whereas no deterioration was observed in the sector RP group. We identified 16 known and three novel RHO mutations, including two missense mutations (p.T108P and p.G121R) and one deletion mutation (p.P347_A348del). The pathogenic variants were most frequently detected in exon 1 (14 of 36 [38.9%]). The most common pathogenic variants were p.P347L and T17M (5 of 36 [13.9%] families). Among 42 patients of 36 families, 35 patients of 29 families (80.6%) presented with the generalized RP phenotype, and seven patients of seven families (19.4%) presented with the sector RP phenotype. Three variants (p.T17M, p.G101E, and p.E181K) presented with both the generalized and sector RP phenotypes.

Conclusion: This multicenter cohort study provided information on the clinical and genetic features of RHO-associated RP in Koreans. It is clinically important to expand the genetic spectrum and understand genotype-phenotype correlations to ultimately facilitate the development of gene therapy.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kwak, Jiyong(곽지용) ORCID logo https://orcid.org/0000-0002-7738-9136
Byeon, Suk Ho(변석호) ORCID logo https://orcid.org/0000-0001-8101-0830
Lee, Christopher Seungkyu(이승규) ORCID logo https://orcid.org/0000-0001-5054-9470
Lee, Jun Won(이준원) ORCID logo https://orcid.org/0000-0003-0543-7132
Han, Jinu(한진우) ORCID logo https://orcid.org/0000-0002-8607-6625
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