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Aland island eye disease (Forsius-Eriksson type ocular albinism)
Epidemiology:
- found in the Aaland island in the Baltic Sea
Genetics:
- associated with defects in CACNA1F
Clinical manifestations:
- ocular fundus hypopigmentation
- decreased visual acuity due to foveal hypoplasia
- nystagmus
- stigmatism
- protan color vision defect
- myopia
- defective dark adaptation
- except for progression of axial myopia, the disease is a non-progressive condition
Special laboratory:
- electroretinography reveals abnormalities in both photopic & scotopic functions
General
genetic disease of the eye
Database Correlations
OMIM 300600
References
OMIM :accession 300600