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autosomal dominant optic atrophy, classic form

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.
Uniprot Description A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates 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. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density.
Mondo Term and Equivalent IDs
MONDO:0008134:  autosomal dominant optic atrophy, classic form
DOID:0111441: 
GARD:0009890: 
Orphanet:98673: 
SCTID:717336005: 
UMLS:CN207069: