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Article

BIGH3 mutation spectrum in corneal dystrophies.

Investigative ophthalmology & visual science - 1 Apr 2002

Munier Francis L, Frueh Beatrice E, Othenin-Girard Philippe, Uffer Sylvie, Cousin Pascal, Wang Ming X, Héon Elise, Black Graeme C M, Blasi Maria A, Balestrazzi Emilio, Lorenz Birgit, Escoto Rafael, Barraquer Rafael, Hoeltzenbein Maria, Gloor Balder, Fossarello Maurizio, Singh Arun D, Arsenijevic Yvan, Zografos Léonidas, Schorderet Daniel F

Abstract excerpt

PURPOSE: To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity. METHODS: Sixty-one index patients with CDs were subjected to phenotypic and genotypic characterization. The corneal phenotypes of all patients were assessed by biomicroscopy and documented by slit lamp photography. The BIGH3 gene was amplified exon by exon...

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PMID: 11923233

Genes

CDA

Variants

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