ArticleJournal of Korean medical science2019
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
Article in Journal of Korean medical science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients.Ophthalmology science · 2026Article
- Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.Journal of Korean medical science · 2025Article
- Clinical Characteristics and Visual Prognostic Biomarkers in Pericentral Retinitis Pigmentosa: A Study in a South Korean Cohort.Korean journal of ophthalmology : KJO · 2025Article
- In vivo prime editing rescues photoreceptor degeneration in nonsense mutant retinitis pigmentosa.Nature communications · 2025Article
- Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.NPJ genomic medicine · 2025Article
- Subretinal delivery of AAV5-mediated humanMolecular vision · 2025Article
- Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.Molecular vision · 2025Article
- DetectingGenes · 2024Article
- Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.Translational vision science & technology · 2024Article
- Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants ofInternational journal of molecular sciences · 2024Article
- Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.BMC medical genomics · 2024Article
- Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa.PloS one · 2024Article
- Genetic and clinical characteristics of PROM1-related retinal degeneration in Korean.Scientific reports · 2023Article
- A New Preclinical Model of Retinitis Pigmentosa Due toOphthalmology science · 2023Article
- Therapeutic applications of CRISPR/Cas9 gene editing technology for the treatment of ocular diseases.The FEBS journal · 2023Review
- Article
- Clinical and Genetic Findings in Korean Patients with Choroideremia.Korean journal of ophthalmology : KJO · 2023Article
- Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.Genes · 2023Article
- Article
- Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.Frontiers in genetics · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors.
Funding
Abstract
backgroundBecause of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea.
methodsMedical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD.
resultsMolecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies.
conclusionThis study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.
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