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Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa

PURPOSE: Retinitis pigmentosa (RP) shows great diversity between genotypes and phenotypes, and it is important to identify the causative genes. This study aimed to analyze the molecular profiles, associated ocular characteristics, and progression of RP in Korean patients. METHODS: All the genetic va...

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Autores principales: Kim, You Na, Kim, Yoon Jeon, Seol, Chang Ahn, Seo, Eul-Ju, Lee, Joo Yong, Yoon, Young Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553513/
https://www.ncbi.nlm.nih.gov/pubmed/34721897
http://dx.doi.org/10.1155/2021/5067271
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author Kim, You Na
Kim, Yoon Jeon
Seol, Chang Ahn
Seo, Eul-Ju
Lee, Joo Yong
Yoon, Young Hee
author_facet Kim, You Na
Kim, Yoon Jeon
Seol, Chang Ahn
Seo, Eul-Ju
Lee, Joo Yong
Yoon, Young Hee
author_sort Kim, You Na
collection PubMed
description PURPOSE: Retinitis pigmentosa (RP) shows great diversity between genotypes and phenotypes, and it is important to identify the causative genes. This study aimed to analyze the molecular profiles, associated ocular characteristics, and progression of RP in Korean patients. METHODS: All the genetic variants in patients with RP, identified using targeted next-generation sequencing (NGS) with a panel of 88 RP-related genes between November 2018 and November 2019, were retrospectively reviewed. All the patients underwent comprehensive ophthalmological evaluations, and their clinical and family histories were recorded. The best-corrected visual acuity (BCVA) deterioration and photoreceptor disruption progression rates were determined based on the major causative mutational genes using nonlinear mixed models, and the differences among them were investigated using the interaction effect. RESULTS: Among the 144 probands, 82 variants in 24 causative genes were identified in 77 families (53.5%). Most of the RP cases were associated with autosomal recessive variants (N = 64 (44.4%)), followed by autosomal dominant (N = 10 (6.9%)) and X-linked variants (N = 3 (2.1%)). The four most frequently affected genes were EYS (N = 15 (10.4%)), USH2A (N = 12 (8.3%)), PDE6B (N = 9 (6.3%)), and RP1 (N = 8 (5.6%)). Epiretinal membranes and cystoid macular edema were frequently noted in the patients with USH2A (75.0%) and PDE6B (50.0%) variants, respectively. During the follow-up period, the BCVA and photoreceptor disruption changes were significantly different among the patients carrying the four common causative genes (P=0.014 and 0.034, resp.). Patients with PDE6B variants showed faster BCVA changes (0.2 LogMAR/10 years), and those with USH2A variants showed the fastest ellipsoid zone disruptions (−170.4 µm/year). CONCLUSION: In conclusion, our genetic analysis using targeted NGS provides information about the prevalence of RP-associated mutations in Korean patients. Delineating clinical characteristics according to genetic variations may help clinicians identify subtype features and predict the clinical course of RP.
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spelling pubmed-85535132021-10-29 Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa Kim, You Na Kim, Yoon Jeon Seol, Chang Ahn Seo, Eul-Ju Lee, Joo Yong Yoon, Young Hee J Ophthalmol Research Article PURPOSE: Retinitis pigmentosa (RP) shows great diversity between genotypes and phenotypes, and it is important to identify the causative genes. This study aimed to analyze the molecular profiles, associated ocular characteristics, and progression of RP in Korean patients. METHODS: All the genetic variants in patients with RP, identified using targeted next-generation sequencing (NGS) with a panel of 88 RP-related genes between November 2018 and November 2019, were retrospectively reviewed. All the patients underwent comprehensive ophthalmological evaluations, and their clinical and family histories were recorded. The best-corrected visual acuity (BCVA) deterioration and photoreceptor disruption progression rates were determined based on the major causative mutational genes using nonlinear mixed models, and the differences among them were investigated using the interaction effect. RESULTS: Among the 144 probands, 82 variants in 24 causative genes were identified in 77 families (53.5%). Most of the RP cases were associated with autosomal recessive variants (N = 64 (44.4%)), followed by autosomal dominant (N = 10 (6.9%)) and X-linked variants (N = 3 (2.1%)). The four most frequently affected genes were EYS (N = 15 (10.4%)), USH2A (N = 12 (8.3%)), PDE6B (N = 9 (6.3%)), and RP1 (N = 8 (5.6%)). Epiretinal membranes and cystoid macular edema were frequently noted in the patients with USH2A (75.0%) and PDE6B (50.0%) variants, respectively. During the follow-up period, the BCVA and photoreceptor disruption changes were significantly different among the patients carrying the four common causative genes (P=0.014 and 0.034, resp.). Patients with PDE6B variants showed faster BCVA changes (0.2 LogMAR/10 years), and those with USH2A variants showed the fastest ellipsoid zone disruptions (−170.4 µm/year). CONCLUSION: In conclusion, our genetic analysis using targeted NGS provides information about the prevalence of RP-associated mutations in Korean patients. Delineating clinical characteristics according to genetic variations may help clinicians identify subtype features and predict the clinical course of RP. Hindawi 2021-10-21 /pmc/articles/PMC8553513/ /pubmed/34721897 http://dx.doi.org/10.1155/2021/5067271 Text en Copyright © 2021 You Na Kim et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Kim, You Na
Kim, Yoon Jeon
Seol, Chang Ahn
Seo, Eul-Ju
Lee, Joo Yong
Yoon, Young Hee
Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa
title Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa
title_full Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa
title_fullStr Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa
title_full_unstemmed Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa
title_short Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa
title_sort genetic profile and associated characteristics of 150 korean patients with retinitis pigmentosa
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553513/
https://www.ncbi.nlm.nih.gov/pubmed/34721897
http://dx.doi.org/10.1155/2021/5067271
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