Aaland Island eye disease

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Aaland Island eye disease2016-10-22T14:49:45+00:00

Aaland Island eye disease

Aaland Islands image from New Medical Terms

Aaland Islands

MOLECULAR MEDICINE

An X-linked recessive retinal disorder (OMIM:300600) first described in a cohort on the Aaland Islands (due west of Turku on the map) in the Baltic Sea, which is characterised by fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation, and progressive axial myopia. Electroretinography reveals defects in photopic and scotopic functions. 

Molecular pathology Defects in CACNA1F on chromosome Xp11.23, which encodes the alpha-1F subunit of a voltage-dependent calcium channel cause Aaland island eye disease. 

Synonym Forsius-Eriksson type ocular albinism 

References http://www.uniprot.org/uniprot/O60840

http://www.omim.org/entry/300600

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