ArticleJournal of ophthalmology2021
Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.
Article in Journal of ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 12 citations in OpenAlex.
- Longitudinal Behavior of the Hyper-Reflective Ganglion Cell Layer Band and Its Association With Ellipsoid Zone Constriction Rate in RP.Investigative ophthalmology & visual science · 2026Article
- Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.Investigative ophthalmology & visual science · 2025Article
- Long-term natural history of ellipsoid zone width inThe British journal of ophthalmology · 2025Article
- Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.Scientific reports · 2024Article
- DetectingGenes · 2024Article
- A New Preclinical Model of Retinitis Pigmentosa Due toOphthalmology science · 2023Article
- Article
- Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.Diagnostics (Basel, Switzerland) · 2023Article
- Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.Clinical ophthalmology (Auckland, N.Z.) · 2022Article
- Development of a novel knockout model of retinitis pigmentosa usingFrontiers in medicine · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
purposeRetinitis 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.
methodsAll 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.
resultsAmong 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 (
conclusionIn 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.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.