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Article

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

Ophthalmology - 1 Sept 2012

Littink Karin W, van Genderen Maria M, van Schooneveld Mary J, Visser Linda, Riemslag Frans C C, Keunen Jan E E, Bakker Bjorn, Zonneveld Marijke N, den Hollander Anneke I, Cremers Frans P M, van den Born L Ingeborgh

Abstract excerpt

PURPOSE: To determine the genetic defect and to describe the clinical characteristics in patients with retinitis punctata albescens (RPA) and fundus albipunctatus (FAP). DESIGN: Case series/observational study. PARTICIPANTS: We included 13 patients affected by RPA or FAP. METHODS: Thirteen patien...

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Source

Identifiers

PMID: 22559933
DOI: 10.1016/j.ophtha.2012.02.037

Genes

FAP
LRAT
RLBP1
RDH5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22559933-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.PMID 22559933Read ↗

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.Semantic proximity Read ↗

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