Term Name: | Oguchi disease-1 |
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Synonyms: | congenital stationary night blindness Oguchi type 1, CSNBO1 |
Definition: | A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. |
Ontology: | Human Disease [DOID:0110712] ( DOID:0110712 ) |