Congenital form of albinism characterized by retinal
disorder with marked vision impairment and color blindness. Patients should
be considered as muscular dystrophic patients unless proven otherwise.
Aland Island Eye Disease (ACE); Ocular Albinism Type II;
X-chromosome recessive ocular albinism.
Results from a mutation at Xp21.3-Xp212.2 leading
to decreased dystrophin production and congenital stationary night
Ophthalmic symptoms and signs include iris
transillumination, fundus hypopigmentation, congenital nystagmus, and
typical electroretinogram appearance.
Aland Island eye disease is an ophthalmic
diagnosis and is not associated with any other abnormalities. However, the
gene locus is in close proximity to that coding for Duchenne muscular
dystrophy. The coexistence of these two pathologies is well documented and
should be suspected in a child with congenital night blindness who fails to
reach motor milestones.
Careful history and examination
should reveal symptoms and signs of coexisting pathology such as muscular
Patients with confirmed Aland Island eye
disease should probably be treated as if they had muscular dystrophy unless
there is overwhelming evidence to the contrary.
The usual pharmacological precautions
for patients with Duchenne muscular dystrophy should be observed.
Forsius H, Eriksson AW: Ein neues Augensyndrom mit X-chromosomaler
Transmission: eine Sippe mit Fundusalbinismus, Foveahypoplasie, Nystagmus,
Myopie, Astigmatismus und Dyschromatopsie. Klin Monatsbl Augenheilkd 144:447-57, 1964.