OGUCHI DISEASE 1

General Information (adopted from Orphanet):

Synonyms, Signs: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1
CSNBO1
Number of Symptoms 2
OrphanetNr:
OMIM Id: 258100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007642) Congenital stationary night blindness 16 / 7739
2
(OMIM) Yellow or grey discoloration of retina that disappears after prolonged dark adaptation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Oguchi disease is characterized by congenital static night blindness and diffuse yellow or gray coloration of the fundus. After 2 or 3 hours in total darkness, the normal color of the fundus returns (Oguchi, 1907; Mizuo, 1913; Carr ...
Molecular genetics OMIM Fuchs et al. (1995) identified a homozygous 1-bp deletion in the SAG gene (1147delA; 181031.0001) in 5 of 6 unrelated Japanese patients with Oguchi disease.

Nakazawa et al. (1998) reported 2 sibs with the SAG 1147delA ...