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Article

THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE.

Retina (Philadelphia, Pa.) - 1 Mar 2016

Thompson Dorothy A, Constable Paul A, Liasis Alki, Walters Bronwen, Esteban Maite Tome

Abstract excerpt

PURPOSE: Danon disease is caused by mutations in the lysosome-associated membrane protein-2 gene (LAMP2). In the eye, LAMP2 is expressed only in the retinal pigment epithelium. This study aimed to investigate the previously unreported impact of LAMP2 mutations on the electrooculogram generated by the retinal pigment epithelium. METHODS: Four members of a family with Danon disease were examined. All have mutations...

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Source

Identifiers

PMID: 26398689
DOI: 10.1097/IAE.0000000000000736

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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