Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

Investigative ophthalmology & visual science - 2 Dec 2011

Maubaret Cécilia G, Vaclavik Veronika, Mukhopadhyay Rajarshi, Waseem Naushin H, Churchill Amanda, Holder Graham E, Moore Anthony T, Bhattacharya Shomi S, Webster Andrew R

Abstract excerpt

PURPOSE: The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8. METHODS: Ten affected members from the two families (excluded for PRPF31 mutations) were assessed clinically. Seven subjects had fundus photography; some had electrophysiology, autofluorescence imaging, and visual...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 17
Share to Electroretinography

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Night Blindness

Share to Photoreceptor Cells, Vertebrate

Share to Tomography, Optical Coherence

Share to Visual Acuity

Share to Visual Field Tests

Source

Identifiers

PMID: 22039234
DOI: 10.1167/iovs.11-8372

Genes

PRPF8
ERG
PRPF31

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.PMID 22039234Read ↗

Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.Semantic proximity Read ↗

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.Semantic proximity Read ↗

Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.Semantic proximity Read ↗

Phenotypic expression of a PRPF8 gene mutation in a Large African American family.Semantic proximity Read ↗

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.Semantic proximity Read ↗

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.Semantic proximity Read ↗

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.Semantic proximity Read ↗

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Semantic proximity Read ↗

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.Semantic proximity Read ↗

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.