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

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

American journal of ophthalmology - 1 Mar 2009

Renner Agnes B, Fiebig Britta S, Weber Bernhard H F, Wissinger Bernd, Andreasson Sten, Gal Andreas, Cropp Elke, Kohl Susanne, Kellner Ulrich

Abstract excerpt

PURPOSE: To describe the phenotypic variability in 22 patients with PRPH2 gene mutations and to report six novel mutations. DESIGN: Retrospective study. METHODS: Clinical examinations included color vision testing, perimetry, fundus autofluorescence (FAF), fluorescein angiography, optical coherence tomography (OCT), and full-field and multifocal electroretinography (International Society for Clinical...

Read the complete abstract on PubMed

Topics

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

Share to Diseases in Twins
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Intermediate Filament Proteins

Share to Peripherins

Share to Retinal Degeneration

Share to Tomography, Optical Coherence

Share to Twins, Monozygotic

Source

Identifiers

PMID: 19038374
DOI: 10.1016/j.ajo.2008.09.007

Genes

PRPH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.PMID 19038374Read ↗

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.Semantic proximity Read ↗

Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.Semantic proximity Read ↗

NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.Semantic proximity Read ↗

PRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS.Semantic proximity Read ↗

PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophySemantic proximity Read ↗

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.Semantic proximity Read ↗

PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.Semantic proximity Read ↗

PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.Semantic proximity Read ↗

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.Semantic proximity Read ↗

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.Semantic proximity Read ↗

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.Semantic proximity Read ↗

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.Semantic proximity Read ↗

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