ALAND ISLAND EYE DISEASE - CLINICAL AND ELECTROPHYSIOLOGICAL STUDIES OF A WELSH FAMILY

Clinical and molecular genetic studies were performed on a single, lar ge, white family, in which congenital nystagmus and moderate to high r efractive error segregated as a sex Linked trait with manifestation in some female carriers. In this family, affected males demonstrate myop ia, but a high proportion of female carriers, and some of the possibly affected males, show hypermetropia. Clinical ophthalmic examination a nd electrodiagnostic studies of retinal function were fully compatible with a diagnosis of either incomplete congenital stationary night bli ndness or of Aland island eye disease. Previous studies have mapped bo th disorders to the proximal short arm of the X chromosome: our molecu lar studies support this localisation. Incomplete congenital stationar y nightblindness and Aland Island eye disease could be considered as a single entity.