Aaland Island eye disease

Aaland Island eye disease

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

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