Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness

Background Little is known about whether patients with complete congenital stationary night blindness (CSNB) maintain visual function throughout their lifetime. The purpose of this report was to describe clinical and genetic features of an elderly female patient with complete CSNB that we followed f...

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Veröffentlicht in:	Documenta ophthalmologica 2021-04, Vol.142 (2), p.265-273
Hauptverfasser:	Hayashi, Takaaki, Mizobuchi, Kei, Kikuchi, Shinsuke, Nakano, Tadashi
Format:	Artikel
Sprache:	eng
Schlagworte:	Acuity Aged Blindness Clinical Case Report Electroretinograms Electroretinography Eye Diseases, Hereditary - genetics Female Genetic analysis Genetic Diseases, X-Linked Humans Lamination Medicine Medicine & Public Health Myopia Night Blindness - diagnosis Night Blindness - genetics Nyctalopia Ophthalmology Pedigree Retina Stationary night blindness Transient receptor potential proteins TRPM Cation Channels - genetics Visual perception
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