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

Takaaki Hayashi Yusuke Murakami Kei MizobuchiYoshito KoyanagiKoh-Hei SonodaTadashi Nakano

Published in: Ophthalmic genetics (2021)

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.

Keyphrases

community dwelling
middle aged
physical activity
intellectual disability
liquid chromatography
sleep quality