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

Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.

Retina (Philadelphia, Pa.) - 1 Jan 2000

Schatz Patrik, Preising Markus, Lorenz Birgit, Sander Birgit, Larsen Michael, Eckstein Christoph, Rosenberg Thomas

Abstract excerpt

PURPOSE: The purpose of this study was to characterize the phenotype of fundus albipunctatus associated with RDH5 mutations. METHODS: Four unrelated patients (patients 1-4) aged 35, 32, 19, and 8 years were examined with full-field electroretinography, multifocal electroretinography, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic investigations included sequencing of RDH5...

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 Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fundus Oculi

Share to Lipofuscin

Share to Microarray Analysis

Share to Photic Stimulation

Share to Retinal Degeneration

Share to Visual Field Tests

Source

Identifiers

PMID: 20829743
DOI: 10.1097/IAE.0b013e3181dc050a

Genes

RDH5
RLBP1

Variants

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

Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.PMID 20829743Read ↗

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).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 ↗

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.Semantic proximity Read ↗

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

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.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 ↗

Macular dystrophy in a Japanese family with 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 ↗

[Fundus albipunctatus with mutations in the RDH5 gene (clinical case)].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 ↗

A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.Semantic proximity Read ↗

[A case of fundus albipunctatus with a retinol dehydrogenase 5 gene mutation in a child].Semantic proximity Read ↗

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