ArticleInvestigative ophthalmology & visual science2009
Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
Article in Investigative ophthalmology & visual science, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.Advances in therapy · 2022Pooled it
- Genetics and phenotypes ofMolecular vision · 2025Article
- Outcomes of vitreoretinal surgery in eyes with retinitis pigmentosa without retinal detachment.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.BMC ophthalmology · 2023Article
- Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.Korean journal of ophthalmology : KJO · 2023Article
- Visual impairment and blindness due to retinitis pigmentosa in India: 15-year follow-up of the Andhra Pradesh Eye Disease Study cohort.Indian journal of ophthalmology · 2023Article
- Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II.Indian journal of ophthalmology · 2022Observational
- Retinitis pigmentosa in Usher syndrome in India: Electronic medical records driven big data analytics: Report III.Indian journal of ophthalmology · 2022Observational
- Rare eye diseases in India: A concise review of genes and genetics.Indian journal of ophthalmology · 2022Review
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.Investigative ophthalmology & visual science · 2022Article
- Genetics of Inherited Retinal Diseases in Understudied Populations.Frontiers in genetics · 2022Review
- Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.Scientific reports · 2021Observational
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.Eye and vision (London, England) · 2020Article
- Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.Journal of translational medicine · 2018Article
- Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.Bioscience reports · 2018Article
- Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Molecular vision · 2016Article
- Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.Molecular vision · 2016Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo identify the disease-causing genes in families with autosomal recessive RP (ARRP).
methodsFamilies were screened for homozygosity at candidate gene loci followed by screening of the selected gene for pathogenic mutations if homozygosity was present at a given locus. A total of 34 families were included, of which 24 were consanguineous. Twenty-three genes were selected for screening. The presence of homozygosity was assessed by genotyping flanking microsatellite markers at each locus in affected individuals. Mutations were detected by sequencing of coding regions of genes. Sequence changes were tested for presence in 100 or more unrelated normal control subjects and for cosegregation in family members.
resultsHomozygosity was detected at one or more loci in affected individuals of 10 of 34 families. Homozygous disease cosegregating sequence changes (two frame-shift, two missense, and one nonsense; four novel) were found in the TULP1, RLBP1, ABCA4, RPE65, and RP1 genes in 5 of 10 families. These changes were absent in 100 normal control subjects. In addition, several polymorphisms and novel variants were found. All the putative pathogenic changes were associated with severe forms of RP with onset in childhood. Associated macular degeneration was found in three families with mutations in TULP1, ABCA4, and RP1 genes.
conclusionsNovel mutations were found in different ARRP genes. Mutations were detected in approximately 15% (5/34) of ARRP families tested, suggesting involvement of other genes in the remaining families.
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