PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia
Investigative Ophthalmology & Visual Science2020Vol. 61(5), pp. 14–14
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Hilde R. Pedersen, Rigmor C. Baraas, Erlend Christoffer Sommer Landsend, Øygunn Aass Utheim, Tor Paaske Utheim, Stuart J. Gilson, Maureen Neitz
Abstract
PAX6 mutations are associated with significant thinning of macular inner and outer retinal layers, consistent with misdirected retinal development resulting in abnormal foveal formation and reduced number of neurons in the macula, with mutations in PAX6 coding regions giving the worst outcome.
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