Aland Island eye disease

Definition:

Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation.

References:

[1]. N R Hawksworth, et al. Aland island eye disease: clinical and electrophysiological studies of a Welsh family. Br J Ophthalmol. 1995 May;79(5):424-30. [Content Brief]

[2]. R G Weleber, et al. Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. Arch Ophthalmol. 1989 Aug;107(8):1170-9. [Content Brief]

[3]. Reetta Jalkanen, et al. A novel CACNA1F gene mutation causes Aland Island eye disease. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. [Content Brief]

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