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Article

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Mar 2010

Khan Arif O, Aldahmesh Mohammed A, Al-Harthi Essam, Alkuraya Fowzan S

Abstract excerpt

OBJECTIVES: To describe a unique pattern of helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation and to highlight how examination of the proband's affected relative allowed appropriate genetic testing. DESIGN: Interventional family study (ophthalmic examination and candidate gene testing). RESULTS: The proband (mother), who complained of poor vision since early childhood, had bilateral...

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PMID: 20212206
DOI: 10.1001/archophthalmol.2010.15

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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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