Condition: Ocular albinism, type II


rs201654095 in CACNA1F gene and Ocular albinism, type II PMID 17525176 2007 A novel CACNA1F gene mutation causes Aland Island eye disease.

PMID 22194652 2011 A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.