Article
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
Investigative ophthalmology & visual science - 1 Dec 2016
Hove Marianne N, Kilic-Biyik Kevser Z, Trotter Alana, Grønskov Karen, Sander Birgit, Larsen Michael, Carroll Joseph, Bech-Hansen Torben, Rosenberg Thomas
Abstract excerpt
Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests,...
Topics
- Adolescent
- Adult
- Aged
- Calcium Channels, L-Type
- Calcium-Binding Proteins
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Denmark