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Article

Fundus albipunctatus associated with compound heterozygous mutations in RPE65.

Ophthalmology - 1 May 2011

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

Abstract excerpt

PURPOSE: To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations. DESIGN: Observational study. PARTICIPANTS: Four family members. METHODS: Clinical examinations included full-field electroretinogram (ffERG) after standard (30-minute) and prolonged (17-hour) dark...

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Source

Identifiers

PMID: 21211845
DOI: 10.1016/j.ophtha.2010.09.005

Genes

RPE65
RPE
RDH5
RLBP1

Variants

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.

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