Article
Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Nov 2018
Yahalom Claudia, Blumenfeld Anat, Hendler Karen, Wussuki-Lior Orly, Macarov Michal, Shohat Mordechai, Khateb Samer
Abstract excerpt
PURPOSE: Aniridia is a rare panocular disorder caused by mutations in the PAX6 gene and characterized mainly by iris hypoplasia. Here, we present six families with a history of low vision/blindness with a previously undiagnosed mild aniridia phenotype with minimal iris changes. METHODS: Retrospective case series of patients diagnosed with a subtle aniridia phenotype characterized by minimal iris abnormalities,...
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