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. 1995 May;79(5):424–430. doi: 10.1136/bjo.79.5.424

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

N R Hawksworth 1, S Headland 1, P Good 1, N S Thomas 1, A Clarke 1
PMCID: PMC505128  PMID: 7612552

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.

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Selected References

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