Åland 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 ofthe possibly affected males, show hypermetropia. Clinical ophthalmic examination and electrodiagnostic studies of retinal function were fully compatible with a diagnosis of either incomplete conenital stationary night blindness or of Åhand island eye disease. Previous studies have mapped both disorders to the proximal short arm ofthe X chromosome: our molecular studies support this localisation. Incomplete congenital stationary nightblindness and Åland sland eye disease could be considered as a single entity.