ArticleFrontiers in cell and developmental biology2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
Article in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- From Mechanism to Therapy: Establishing an Integrated Framework for the Regulation and Intervention of Matrix Vesicles in Vascular Calcification.Cardiovascular drugs and therapy · 2026Review
- Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders.Molecular genetics and metabolism reports · 2026Article
- Visualising treatment effects in low-vision settings: proven and potential endpoints for clinical trials of inherited retinal disease therapies.Gene therapy · 2026Review
- Article
- Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.Ophthalmology science · 2026Review
- Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance ofAnnals of laboratory medicine · 2026Article
- Expanding the Genetic Spectrum inGenes · 2025Article
- Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.Eye (London, England) · 2025Article
- Tropism and Retinal Transduction Efficiency of Adeno-Associated Virus Serotypes in Mice.Investigative ophthalmology & visual science · 2025Article
- Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.BMC medical genomics · 2025Observational
- Bilateral Sector Macular Dystrophy Associated withJournal of clinical medicine · 2025Article
- Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.Scientific reports · 2025Article
- Retinal Dystrophies Associated with Mutations in theCurrent issues in molecular biology · 2025Article
- Aberrant homeodomain-DNA cooperative dimerization underlies distinct developmental defects in two dominantGenome research · 2025Article
- Article
- Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.Molecular therapy. Nucleic acids · 2024Article
- Inherited retinal dystrophies and orphan designations in the European Union.European journal of ophthalmology · 2024Review
- Article
- Aberrant homeodomain-DNA cooperative dimerization underlies distinct developmental defects in two dominantbioRxiv : the preprint server for biology · 2024Article
- Deciphering complexity:Frontiers in genetics · 2024Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with IRD which makes genetic diagnosis very difficult. The recent advent of next generation sequencing has greatly facilitated the diagnostic process, enabling to provide the patients with accurate genetic counseling in some cases. We studied 92 patients who were clinically diagnosed with IRD with two different custom panels. In total, we resolved 53 patients (57.6%); in 12 patients (13%), we found only one mutation in a gene with a known autosomal recessive pattern of inheritance; and 27 patients (29.3%) remained unsolved. We identified 120 pathogenic or likely pathogenic variants; 30 of them were novel. Among the cone-rod dystrophy patients,
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