ArticleOphthalmology2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Article in Ophthalmology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort.Medical sciences (Basel, Switzerland) · 2026Article
- Unraveling theInternational journal of molecular sciences · 2025Article
- Pseudocoloboma-like maculopathy with biallelicJournal of medical genetics · 2023Article
- Review
- Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.Molecular genetics and metabolism · 2022Review
- Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.Frontiers in genetics · 2022Article
- The Potential Role of Epigenetic Mechanisms in the Development of Retinitis Pigmentosa and Related Photoreceptor Dystrophies.Frontiers in genetics · 2022Article
- Beyond Genetics: The Role of Metabolism in Photoreceptor Survival, Development and Repair.Frontiers in cell and developmental biology · 2022Review
- miR-9-5p regulates immunometabolic and epigenetic pathways in β-glucan-trained immunity via IDH3α.JCI insight · 2021Article
- The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.International journal of molecular sciences · 2021Review
- Photoreceptor metabolic reprogramming: current understanding and therapeutic implications.Communications biology · 2021Review
- Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.NPJ genomic medicine · 2021Article
- Longitudinal Changes of Macular Curvature in Patients with Retinitis Pigmentosa.Translational vision science & technology · 2020Article
- De Novo Assembly-Based Analysis ofGenes · 2020Article
- Molecular basis for the function of the αβ heterodimer of human NAD-dependent isocitrate dehydrogenase.The Journal of biological chemistry · 2019Article
- Cancer-associated mutation and beyond: The emerging biology of isocitrate dehydrogenases in human disease.Science advances · 2019Review
- Review
- MouseDisease models & mechanisms · 2018Article
- A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 5 countries.
Funding
Abstract
purposeTo identify the genetic cause of and describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with pseudocoloboma.
designCase series.
participantsSeven patients from 4 unrelated families with arRP, among whom 3 patients had bilateral early-onset macular pseudocoloboma.
methodsWe performed homozygosity mapping and whole-exome sequencing in 5 probands and 2 unaffected family members from 4 unrelated families. Subsequently, Sanger sequencing and segregation analysis were performed in additional family members. We reviewed the medical history of individuals carrying IDH3A variants and performed additional ophthalmic examinations, including full-field electroretinography, fundus photography, fundus autofluorescence imaging, and optical coherence tomography.
main outcome measuresIDH3A variants, age at diagnosis, visual acuity, fundus appearance, visual field, and full-field electroretinography, fundus autofluorescence, and optical coherence tomography findings.
resultsWe identified 7 different variants in IDH3A in 4 unrelated families, that is, 5 missense, 1 nonsense, and 1 frameshift variant. All participants showed symptoms early in life, ranging from night blindness to decreased visual acuity, and were diagnosed between the ages of 1 and 11 years. Four participants with biallelic IDH3A variants displayed a typical arRP phenotype and 3 participants were diagnosed with arRP and pseudocoloboma of the macula.
conclusionsIDH3A variants were identified as a novel cause of typical arRP in some individuals associated with macular pseudocoloboma. We observed both phenotypes in 2 siblings carrying the same compound heterozygous variants, which could be explained by variable disease expression and warrants caution when making assertions about genotype-phenotype correlations.
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