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Article

Large gene deletion and changes in corneal endothelial cells in a family with choroideremia.

Investigative ophthalmology & visual science - 26 Feb 2015

Lee Shih-Yun, Yu Wei-Kuang, Lin Po-Kang

Abstract excerpt

PURPOSE: We provided the first report of an association between changes in corneal endothelial cells, retina, and choriocapillaris in a choroideremia family. METHODS: Four members of an Asian choroideremia family, comprising two affected patients and two carriers, were evaluated. All participants underwent complete eye examinations, including visual acuity (VA), slit-lamp examination, ophthalmoscopy, perimetry,...

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Share to Choroideremia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25722215
DOI: 10.1167/iovs.14-16302

Genes

ECD
CHM
RPE

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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