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Article

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.

Ophthalmic genetics - 1 Sept 2014

Khan Arif O, Aldahmesh Mohammed A, Abu-Safieh Leen, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: To describe three siblings with childhood cone-rod dystrophy and macular cystic degeneration in a family with apparently variable phenotypes of CRB1-related recessive retinal dystrophy. METHODS: Ophthalmologic examination (including electroretinography (ERG), ocular coherence tomography (OCT), and intravenous fluorescein angiography when possible) and homozygosity analysis guided candidate gene testing....

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Source

Identifiers

PMID: 23767994
DOI: 10.3109/13816810.2013.804097

Genes

CRB1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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