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

Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.

Acta ophthalmologica Scandinavica - 1 Apr 2006

Hayashi Takaaki, Goto-Omoto Satoshi, Takeuchi Tomokazu, Gekka Tamaki, Ueoka Yasuo, Kitahara Kenji

Abstract excerpt

PURPOSE: To describe the clinical features and genetic analysis of a 3-year-old boy diagnosed with familial fleck retina with night blindness. METHODS: The proband and his parents and grandparents were included. History, visual acuity and fundus examinations were evaluated. Bright-flash (rod-plus-cone) electroretinograms (ERGs) were recorded after 30 mins and 180 mins of dark adaptation. Mutation screening of the...

Read the complete abstract on PubMed

Topics

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

Share to Alcohol Oxidoreductases
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Genes, Recessive

Share to Night Blindness

Share to Pedigree

Share to Photic Stimulation

Share to Retinal Diseases

Source

Identifiers

PMID: 16637847
DOI: 10.1111/j.1600-0420.2005.00575.x

Genes

RDH5

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.PMID 16637847Read ↗

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).Semantic proximity Read ↗

Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.Semantic proximity Read ↗

Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.Semantic proximity Read ↗

11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.Semantic proximity Read ↗

RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.Semantic proximity Read ↗

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)Semantic proximity Read ↗

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.Semantic proximity Read ↗

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.Semantic proximity Read ↗

Macular dystrophy in a 9-year-old boy with fundus albipunctatus.Semantic proximity Read ↗

Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.Semantic proximity Read ↗

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.Semantic proximity Read ↗

Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.Semantic proximity Read ↗

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