Aland Island eye disease; AIED

Disease ID:47
Name:Aland Island eye disease; AIED
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Database Links
Disease Ontology: DOID:0050630
OMIM: 300600
Orphanet: ORPHA178333

Targets

Cav1.4
Role:  Decreased signaling from photoreceptors to secondary neurons
Comments:  Affected males show a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition.
References:  1
Mutations:  Cav1.4 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Aland Island eye disease; AIED

References

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1. Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T. (2007) A novel CACNA1F gene mutation causes Aland Island eye disease. Invest. Ophthalmol. Vis. Sci., 48 (6): 2498-502. [PMID:17525176]