Oguchi disease-1

Term ID

DOID:0110712

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. (2)

References

• OMIM:258100

Ontology

Human Disease   ( DOID:0110712 )