1. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia

    Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia
    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 biomicroscopy, direct and indirect ophthalmoscopy, tonometry, and OCT. PAX6 gene mutation analysis was carried out by direct sequencing of gene-specific PCR products and protein analysis by Western blot. Results Intrafamilial variable expressivity was seen between 4 affected family members. Phenotype differences between twin children suggested that this was ...
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