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optic atrophy 5

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Uniprot Description A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia.
Mondo Term and Equivalent IDs
MONDO:0012543:  optic atrophy 5
DOID:0111438: 
GARD:0010201: 
MESH:C537126: 
UMLS:C1853139: