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. 2023 Aug 29:14:1240067.
doi: 10.3389/fgene.2023.1240067. eCollection 2023.

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

Young Hoon Jung #  1 , Jay Jiyong Kwak #  2 , Kwangsic Joo #  1 , Hyuk Jun Lee  3 , Kyu Hyung Park  3 , Min Seok Kim  1 , Eun Kyoung Lee  3 , Suk Ho Byeon  2 , Christopher Seungkyu Lee  2 , Jinu Han  4 , Junwon Lee  4 , Chang Ki Yoon  3 , Se Joon Woo  1
Affiliations

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

Young Hoon Jung et al. Front Genet. .

Abstract

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.

Keywords: Koreans; generalized retinitis pigmentosa; retinitis pigmentosa; rhodopsin; sector retinitis pigmentosa.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
A lollipop diagram of the location of RHO mutations in the dataset.
FIGURE 2
FIGURE 2
Images of different phenotypes of patients with RP with p.G101E mutations. (A) A 78-year-old man carrying the missense mutation (p.G101E). A wide field color fundus photo showing bone-spicule pattern of pigmentary deposits. (B) A 61-year-old man carrying the same missense mutation (p.G101E). A wide field color fundus photo showing inferior bone-spicule degeneration fundus pattern of pigmentary deposits.
FIGURE 3
FIGURE 3
Images of the RP patients with novel RHO mutations. (A) A 50-year-old female carrying the missense mutation (p.T108P). A wide field color fundus photo showing bone-spicule pattern of pigmentary deposits in the mid-peripheral retina. The Goldmann visual field test showing a central island on both eyes. (B) A 21-year-old female with the missense mutation (p.G121R). A wide field color fundus photo showing some bone-spicule pattern of pigmentary deposits in the mid-peripheral retina. The Goldmann visual field test showing a peripheral constriction field defect. (C) A 45-year-old male with the deletion mutation (p.P347_A348del). A wide field color fundus photo showing diffuse bone-spicule pattern of pigmentary deposits. The Goldmann visual field test showing a central island on both eyes.
FIGURE 4
FIGURE 4
Representative images of the generalized RHO-associated RP. (A–D) A 48-year-old man carrying the missense mutation (p.R135W). (A, B) A wide field color fundus photo at the initial and last visits (11 years gap), respectively. (C, D) The Goldmann visual field test at the initial and last visits (11 years gap), respectively. (E, F) A 45-year-old man carrying the missense mutation (p.R135W). Horizontal and vertical scans of spectral domain OCT at the initial and last visits (7 years gap), respectively.
FIGURE 5
FIGURE 5
Representative images of the sector RHO-associated RP. (A–F) A 48-year-old man carrying the missense mutation (p.T17M). (A, B) A wide field color fundus photo at the initial and last visits (7 years gap), respectively. (B) A barrier laser scar showing at superotemporal area on left eye. (C, D) The Goldmann visual field test at the initial and last visits (7 years gap), respectively. (E, F) Horizontal and vertical scans of spectral domain OCT at the initial and last visits (7 years gap), respectively.
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