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Article

Retinopathy in Danon disease.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Feb 2007

Schorderet Daniel F, Cottet Sandra, Lobrinus Johannes Alexander, Borruat François-Xavier, Balmer Aubin, Munier Francis L

Abstract excerpt

OBJECTIVE: To evaluate visual function in 2 boys and their maternal aunt affected with Danon disease due to a mutation in the X-linked lysosome-associated membrane protein-2 (LAMP2) gene. METHODS: Linkage analysis using microsatellite markers from the X chromosome was done in family members from the paternal side. Visual acuity testing, fundus analysis, fluorescence angiography, and full-field electroretinography...

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Source

Identifiers

PMID: 17296900
DOI: 10.1001/archopht.125.2.231

Genes

LAMP2

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.

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[Clinical characterization of patients with Danon disease].Semantic proximity Read ↗

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