Article
Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Aug 2011
Gregory-Evans Kevin, Cheong-Leen Richard, George Sheena M, Xie Judy, Moosajee Mariya, Colapinto Patricio, Gregory-Evans Cheryl Y
Abstract excerpt
OBJECTIVE: To determine the value of optical coherence tomography (OCT) as a diagnostic tool in the critical evaluation of phenotypic variability seen in an aniridia family with a novel PAX6 mutation. DESIGN: Genetic and observational family study. PARTICIPANTS: Three-generation family segregating autosomal dominant aniridia. METHODS: Ophthalmic examination included best-corrected visual acuity, slit-lamp...
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