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Article

Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2012

van de Ven Johannes P H, Boon Camiel J F, Fauser Sacha, Hoefsloot Lies H, Smailhodzic Dzenita, Schoenmaker-Koller Frederieke, Klevering Jeroen, Klaver Caroline C W, den Hollander Anneke I, Hoyng Carel B

Abstract excerpt

OBJECTIVES: To identify novel complement factor H (CFH) gene mutations and to specify the clinical characteristics in patients with basal laminar drusen (BLD), a clinical subtype of age-related macular degeneration. METHODS: Twenty-one probands with BLD were included in this study. The ophthalmic...

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Identifiers

PMID: 22491393
DOI: 10.1001/archophthalmol.2012.265

Genes

CFH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22491393-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.PMID 22491393Read ↗

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