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Oguchi disease type 2 (European form); stationary night blindness Oguchi type-2
Pathology:
- stationary night blindness
- due to malfunction of the rod photoreceptor mechanism
Genetics:
- autosomal recessive
- point_mutation chromosome 13q34
- associated with point mutations in RHOK gene
- associated with defect in GRK1 gene
Clinical manifestations:
- congenital, static hemeralopia & diffuse yellow or gray coloration of the fundus
- after 2 or 3 hours in total darkness, the normal color of the fundus returns
General
congenital stationary night blindness Oguchi type; Oguchi disease (CSNBO)
Database Correlations
OMIM correlations