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At a glance

This is a congenital form of albinism characterized by retinal disorder with marked vision impairment and color blindness. Patients should be considered as muscular dystrophic unless proven otherwise.

Synonyms

Aland Island Eye Disease (ACE); Ocular Albinism Type II Syndrome; OA II Syndrome.

Genetic inheritance

X-chromosome recessive ocular albinism.

Pathophysiology

Results from a mutation at Xp21.3-Xp212.2 leading to decreased dystrophin production and congenital stationary night blindness.

Diagnosis

Ophthalmic symptoms and signs include iris transillumination, fundus hypopigmentation, congenital nystagmus, and typical electroretinogram appearance.

Clinical aspects

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.

Precautions before anesthesia

Careful history and examination should reveal symptoms and signs of coexisting pathology such as muscular dystrophy.

Anesthetic considerations

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.

Pharmacological implications

The usual pharmacological precautions for patients with Duchenne muscular dystrophy should be observed.

References

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Forsius  H, Eriksson  AW: Ein neues Augensyndrom mit X-chromos-omaler Transmission: eine Sippe mit Fundusalbinismus, Foveahypoplasie, Nystagmus, Myopie, Astigmatismus und Dyschromatopsie. Klin Monatsbl Augenheilkd 144:447–457, 1964.  [PubMed: 14230113]

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