Preferred Label : Oguchi disease 2;
CISMeF acronym : CSNBO2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : CSNBO2; Night blindness, congenital stationary, oguchi type 2;
Description : Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness
in which all other visual functions, including visual acuity, visual field, and color
vision, are usually normal. A typical feature of the disease is a golden or gray-white
discoloration of the fundus that disappears in the dark-adapted state and reappears
shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation
of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed
normally (summary by Fuchs et al., 1995). For a general description and a discussion
of genetic heterogeneity of Oguchi disease, see CSNBO1 (258100).;
Prefixed ID : #613411;
Origin ID : 613411;
UMLS CUI : C3150678;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Manual NTBT mappings (CISMeF)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
