Article
Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities.
BMC ophthalmology - 16 Jan 2022
Ouyang Junyi, Cai Ziyan, Guo Yinjie, Nie Fen, Cao Mengdan, Duan Xuanchu
Abstract excerpt
BACKGROUND: Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have been linked to a range of ophthalmic abnormalities. Furthermore, particular variants at a given site in PAX6 lead to distinct phenotypes. This study aimed to...
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