Aland island eye disease: clinical and electrophysiological studies of a Welsh family. Issue 5 (May 1995)

• Record Type: Journal Article
• Authors: Hawksworth, N R; Headland, S; Good, P; Thomas, N S; Clarke, A
• Is Part Of: British journal of ophthalmology. Volume 79:Issue 5(1995)
• Page Start: 424
• Page End: 430
• Publication Date: 1995-05
• Subjects: Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjo.79.5.424
• Languages: English
• ISSNs: 0007-1161

Abstract

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.