Complete congenital stationary night blindness associated with a novel < em > NYX < /em > variant (p.Asn216Lys) in middle-aged and older adult patients

Conclusions: We identified a novel missense NYX variant in a Japanese family with complete CSNB. Our clinical findings indicated that photoreceptor mediated ERG responses are well preserved even in middle-aged and older adult patients.PMID:33769208 | DOI:10.1080/13816810.2021.1904422

Source: Ophthalmic Genetics - March 26, 2021 Category: Opthalmology Authors: Takaaki Hayashi Yusuke Murakami Kei Mizobuchi Yoshito Koyanagi Koh-Hei Sonoda Tadashi Nakano Source Type: research