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

Macular dystrophy in a Japanese family with fundus albipunctatus.

American journal of ophthalmology - 1 Jun 2003

Hotta Kazuki, Nakamura Makoto, Kondo Mineo, Ito Sei, Terasaki Hiroko, Miyake Yozo, Hida Tetsuo

Abstract excerpt

PURPOSE: To report a Japanese family with fundus albipunctatus and macular dystrophy associated with a mutation in the 11-cis retinol dehydrogenase (RDH5) gene. DESIGN: Observational case report. METHOD: Ophthalmic examinations and DNA analysis were performed. RESULTS: The fundi of a 56-year-old man and his 51-year-old sister showed numerous yellow-white punctata. He also had bull's-eye maculopathy and...

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 Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fundus Oculi

Share to Macular Degeneration

Share to Night Blindness

Share to Point Mutation

Share to Visual Fields

Source

Identifiers

PMID: 12788147
DOI: 10.1016/s0002-9394(02)02290-0

Genes

RDH5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Macular dystrophy in a Japanese family with fundus albipunctatus.PMID 12788147Read ↗

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

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

A novel compound heterozygous mutation in the RDH5 gene in a patient with 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 ↗

Genetic and phenotypic characteristics of four Chinese families with 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 ↗

A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.Semantic proximity Read ↗

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

A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.Semantic proximity Read ↗

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

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

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.Semantic proximity Read ↗

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