Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. Invest Ophthalmol Vis Sci 2016 Dec 01;57(15):6861-6869
Date
12/22/2016Pubmed ID
28002560Pubmed Central ID
PMC5215230DOI
10.1167/iovs.16-19445Scopus ID
2-s2.0-85007312887 (requires institutional sign-in at Scopus site) 26 CitationsAbstract
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 acuity was present in all, nystagmus was present in 63%, and foveal hypoplasia was observed in 25/43 subjects. Foveal pit volume was significantly reduced as compared to normal (P < 0.0001). Additionally, outer segment length at the fovea was measured in 46 subjects and found to be significantly reduced as compared to normal (P < 0.001). Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. The estimated mean birth prevalence rate was 1 per 22,000 live-born males.
CONCLUSIONS: Our data support the viewpoint that AED, iCSNB, and X-linked cone-rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. We argue that the original designation AED should be used for this entity.
Author List
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg TAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Calcium Channels, L-Type
Calcium-Binding Proteins
Child
Child, Preschool
DNA
DNA Mutational Analysis
Denmark
Electroretinography
Eye Diseases, Hereditary
Follow-Up Studies
Forecasting
Genetic Diseases, X-Linked
Humans
Male
Middle Aged
Mutation
Myopia
Night Blindness
Phenotype
Polymerase Chain Reaction
Prevalence
Retrospective Studies
Tomography, Optical Coherence
Young Adult
