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, decreased visual acuity, protanomaly, iris trans-illumination defects, foveal hypoplasia, fundus albinism, astigmatism |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked |
| Mutations | |
| 1 Amish | |
| Gene: | CACNA1F |
| Base Change: | G>C, at nucleotide 1807 |
| Amino Acid Change: | gly 603 --> arg |
| Last updated: | 2024-02-16 |
| 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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