You are using an outdated browser. Please upgrade your browser to improve your experience.

Aland island eye disease

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
Uniprot Description A retinal disease characterized by 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. Electroretinography reveals abnormalities in both photopic and scotopic functions.
Disease Ontology Description An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.
Mondo Term and Equivalent IDs
MONDO:0010371:  Aland island eye disease
GARD:0010574: 
MESH:C562664: 
Orphanet:178333: 
SCTID:266455006: 
UMLS:C0268505: