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.