ArticleThe British journal of ophthalmology1993
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.
Article in The British journal of ophthalmology, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 53 citations in OpenAlex.
- RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.European journal of human genetics : EJHG · 2026Article
- Article
- The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.Human mutation · 2022Article
- Clinical heterogeneity in retinitis pigmentosa caused by variants inMolecular vision · 2020Article
- A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.PloS one · 2018Article
- The phenotypic variability of HK1-associated retinal dystrophy.Scientific reports · 2017Article
- CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.PLoS genetics · 2012Article
- PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.Human molecular genetics · 2011Article
- Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.European journal of human genetics : EJHG · 2009Article
- Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31.Molecular vision · 2008Article
- Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.The Journal of clinical investigation · 2008Article
- Pre-mRNA splicing and retinitis pigmentosa.Molecular vision · 2006Review
- Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2005Article
- Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.American journal of human genetics · 1996Article
- Ophthalmic genetics: a genealogical guide to sources in England and Wales.Journal of medical genetics · 1995Article
- Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.Journal of medical genetics · 1995Article
- Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.The British journal of ophthalmology · 1995Article
- Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.The British journal of ophthalmology · 1995Article
- Genetic features of retinitis pigmentosa in Turkey.Documenta ophthalmologica. Advances in ophthalmology · 1995Article
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8 authors at 1 institution in 1 country.
Funding
Abstract
Twenty five symptomatic individuals and six asymptomatic obligate gene carriers from four families with autosomal dominant retinitis pigmentosa (adRP) showing apparent incomplete penetrance have been studied. Symptomatic individuals from three families showed early onset of night blindness, non-recordable rod electroretinograms, and marked elevation of both rod and cone thresholds in all subjects tested. In the fourth family, there was more variation in the age of onset of night blindness and some symptomatic individuals showed well preserved rod and cone function in some retinal areas. All asymptomatic individuals tested had evidence of mild abnormalities of rod and cone function, indicating that these families show marked variation in expressivity rather than true non-penetrance of the adRP gene. No mutations of the rhodopsin or RDS genes were found in these families and the precise genetic mutation(s) remain to be identified.
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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.