Clinical Characteristics, Mutation Spectrum, and Prevalence of Aland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

ABSTRACT:

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, full-field electroretinography, and spectral-domain optical coherence tomography.

Results

Over the 34-year period, 74 individuals from 35 families were diagnosed with AED. Sixty individuals from 29 families participated in a follow-up study of whom 59 harbored a CACNA1F mutation and 1 harbored a CABP4 mutation. Among the subjects with a CACNA1F mutation, subnormal visual

SUBMITTER: Hove MN 

PROVIDER: S-EPMC5215230 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature