ArticleThe British journal of ophthalmology1995
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
Article in The British journal of ophthalmology, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 68 citations in OpenAlex.
- Characterization of Macular Fundus Autofluorescence Changes in Patients with Retinitis Pigmentosa.Ophthalmic research · 2025Article
- Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.Cellular and molecular life sciences : CMLS · 2023Article
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- Article
- Observational
- Review
- Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.American journal of ophthalmology case reports · 2018Article
- Genetic modifiers and oligogenic inheritance.Cold Spring Harbor perspectives in medicine · 2015Review
- Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.The British journal of ophthalmology · 2007Article
- High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.Molecular vision · 2007Article
- Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.The British journal of ophthalmology · 2007Article
- Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.Advances in experimental medicine and biology · 2006Review
- Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression.Investigative ophthalmology & visual science · 2004Article
- Genetic factors of age-related macular degeneration.Progress in retinal and eye research · 2004Review
- Finding and interpreting genetic variations that are important to ophthalmologists.Transactions of the American Ophthalmological Society · 2003Review
- A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.The British journal of ophthalmology · 2002Article
- Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Diagnosis and classification of macular degenerations: an approach based on retinal function testing.Documenta ophthalmologica. Advances in ophthalmology · 2001Review
- RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.Journal of medical genetics · 1997Article
- The genetics of complex ophthalmic disorders.The British journal of ophthalmology · 1996Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical phenotypes of patients with mutations in the human RDS/peripherin gene are described. A 67-year-old woman, who carried a 1 base pair deletion in codon 307, presented with typical late onset autosomal dominant retinitis pigmentosa (RP). In another autosomal dominant pedigree, a nonsense mutation at codon 46 caused 'inverse' retinitis pigmentosa-like fundus changes associated with progressive cone-rod degeneration in a 58-year-old man, whereas his 40-year-old son presented with yellow deposits in the retinal pigment epithelial layer resembling a pattern dystrophy, and with moderately reduced rod and cone function, as determined by two colour dark adapted threshold perimetry and electroretinography. It is suggested that both clinical pictures within this latter family may represent manifestations of fundus flavimaculatus. The clinical data of the three patients provide further evidence for the remarkable variety of disease expression within and between families with mutations in the RDS/peripherin gene. Currently, the most comprehensive statement could be that RDS/peripherin mutations are associated either with typical RP or with various forms of flecked retinal disease.
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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.