ArticleThe British journal of ophthalmology1995
Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.
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 5 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
5 citing papers in PubMed, 26 citations in OpenAlex.
- Genetic modifiers and oligogenic inheritance.Cold Spring Harbor perspectives in medicine · 2015Review
- Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa.Molecular vision · 2008Article
- Pre-mRNA splicing and retinitis pigmentosa.Molecular vision · 2006Review
- Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.American journal of human genetics · 1997Article
- 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
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
The genetic locus causing autosomal dominant retinitis pigmentosa (adRP) has recently been mapped in a large English family to chromosome 7p. Eight affected members of this family were studied electrophysiologically and psychophysically with dark adapted static threshold perimetry and dark adaptometry. The phenotypes observed fell into three categories: minimally affected with no symptoms, and normal (or near normal) electrophysiology and psychophysics; moderately affected with mild symptoms, abnormal electroretinograms, and equal loss of rod and cone function in affected areas of the retina; and severely affected with extinguished electroretinograms and barely detectable dark adapted static threshold sensitivities. The mutation in the gene on 7p causing adRP in this family causes regional retinal dysfunction with greatly variable expressivity ranging from normal to profoundly abnormal in a manner not explained by age.
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Registered trials
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