Aland island eye disease: clinical and electrophysiological studies of a Welsh family

Clinical and molecular genetic studies were performed on a single, large, white family, in which congenital nystagmus and moderate to high refractive error segregated as a sex linked trait with manifestation in some female carriers. In this family, affected males demonstrate myopia, but a high propo...

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Bibliographic Details
Published in:British journal of ophthalmology 1995-05, Vol.79 (5), p.424-430
Main Authors: Hawksworth, N R, Headland, S, Good, P, Thomas, N S, Clarke, A
Format: Article
Language:English
Subjects:
Adult
Albinism, Ocular - complications
Albinism, Ocular - genetics
Albinism, Ocular - physiopathology
Aminoacid disorders
Biological and medical sciences
Electroretinography
Errors of metabolism
Female
Genetic Linkage
Heterozygote
Humans
Hyperopia - complications
Hyperopia - genetics
Male
Medical sciences
Metabolic diseases
Middle Aged
Myopia - complications
Myopia - genetics
Night Blindness - complications
Night Blindness - congenital
Night Blindness - genetics
Night Blindness - physiopathology
Pedigree
Wales
X Chromosome
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Summary:Clinical and molecular genetic studies were performed on a single, large, white family, in which congenital nystagmus and moderate to high refractive error segregated as a sex linked trait with manifestation in some female carriers. In this family, affected males demonstrate myopia, but a high proportion of female carriers, and some of the possibly affected males, show hypermetropia. Clinical ophthalmic examination and electrodiagnostic studies of retinal function were fully compatible with a diagnosis of either incomplete congenital stationary night blindness or of Aland island eye disease. Previous studies have mapped both disorders to the proximal short arm of the X chromosome: our molecular studies support this localisation. Incomplete congenital stationary nightblindness and Aland Island eye disease could be considered as a single entity.
ISSN:0007-1161
1468-2079
DOI:10.1136/bjo.79.5.424