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autosomal recessive optic atrophy, OPA7 type

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A hereditary 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. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss.
Mondo Term and Equivalent IDs
MONDO:0013069:  autosomal recessive optic atrophy, OPA7 type
DOID:0111437: 
MESH:C567833: 
Orphanet:227976: 
UMLS:C2751812: