Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2022.4146
Abstract: Importance Congenital stationary night blindness (CSNB) is an inherited stationary retinal disorder that is clinically and genetically heterogeneous. To date, the genetic association between some cases with CSNB and an unusual complex clinical picture is… read more here.
Keywords: csnb; congenital stationary; night; night blindness ... See more keywords
Congenital Stationary Night Blindness: Clinical and Genetic Features
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232314965
Abstract: Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night blindness in childhood with heterogeneous genetic, electrophysical, and clinical characteristics. The development of sequencing technologies and gene therapy have increased the… read more here.
Keywords: csnb; night blindness; etiology; congenital stationary ... See more keywords