Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation
NS Sannan, CY Gregory-Evans, CJ Lyons… - Canadian Journal of …, 2017 - Elsevier
Objective To describe the clinical presentation and genotype of subjects with aniridia with a
particular focus on foveal hypoplasia. Design Prospective cohort study. Participants Thirty-
three Canadian participants with aniridia and of various ethnic backgrounds residing in
British Columbia. Methods Full ophthalmic examinations and posterior segment spectral
domain-optical coherence tomography (SD-OCT) imaging were performed. Foveal
hypoplasia was graded independently by 2 staff ophthalmologists. PAX6 sequencing was …
particular focus on foveal hypoplasia. Design Prospective cohort study. Participants Thirty-
three Canadian participants with aniridia and of various ethnic backgrounds residing in
British Columbia. Methods Full ophthalmic examinations and posterior segment spectral
domain-optical coherence tomography (SD-OCT) imaging were performed. Foveal
hypoplasia was graded independently by 2 staff ophthalmologists. PAX6 sequencing was …
