title: Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
abstract: 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.
authors.affiliation: Department of Ophthalmology, University Hospital of Wales, Cardiff.
authors.forename: N R
authors.initials: NR
authors.lastname: Hawksworth
authors.forename: S
authors.initials: S
authors.lastname: Headland
authors.forename: P
authors.initials: P
authors.lastname: Good
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: A
authors.initials: A
authors.lastname: Clarke
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D004596:Electroretinography; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D006956:Hyperopia / Q000150:complications / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000150:complications / Q000235:genetics; D009755:Night Blindness / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D014852:Wales; D014960:X Chromosome