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GTR Home > Conditions/Phenotypes > Aland island eye disease

Aland island eye disease

Synonyms
Forsius Eriksson type ocular albinism
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001). [from OMIM]

Available tests

28 tests are in the database for this condition.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2, CACNA1F
    Summary: calcium voltage-gated channel subunit alpha1 F

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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