Amish, Mennonite, and Hutterite
Genetic Disorder Database

Åland Island Eye Disease

Disorder
OMIM #: #300600  (Click to access OMIM database)
Disorder: Åland Island Eye Disease 
Also known as: FORSIUS-ERIKSSON TYPE OCULAR ALBINISM 
Clinical
Phenotype: nystagmus, myopia, reduced visual acuity, red-green color vision deficits, iris trans-illumination defects, foveal hypoplasia, blonde fundus without evidence of chiasmal misrouting 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CACNA1F
Base Change: G>C, at nucleotide 1807
Amino Acid Change: gly 603 --> arg
Last updated: 2018-04-20 

References
Vincent A, Wright T, Day MA, Westall CA, Héon E. (2011) A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis 17:3262–3270.
PubMed ID: 22194652 

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