TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations

In conclusion: The TYR patients exhibited severe ocular phenotypes: the majority (93.8%, 15/16) of them had a moderate vision impairment or worse, and 100% (12/12) had severe grade 4 foveal hypoplasia. These novel findings could provide insight into the understanding of OCA.PMID:38145795 | DOI:10.1016/j.exer.2023.109761

Source: Experimental Eye Research - December 25, 2023 Category: Opthalmology Authors: Chonglin Chen Jun Li Bingqi Wang Yinghuan Wang Xinping Yu Source Type: research