OGUCHI DISEASE 2

General Information (adopted from Orphanet):

Synonyms, Signs: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2
CSNBO2
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613411
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
(HPO:0000007) Autosomal recessive inheritance 2538 / 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 Hayashi et al. (2007) reported 2 Japanese sibs, born of first-cousin parents, who had night blindness, 1.5 best-corrected visual acuity for each eye, normal color vision, and typical fundus appearance with golden-yellow discoloration. The visual fields were normal ...
Molecular genetics OMIM Individuals with Oguchi disease-1 (258100) have mutations in the gene encoding SAG (181031), also known as arrestin, a member of the rod phototransduction pathway. Because rhodopsin kinase works with arrestin in shutting off rhodopsin after it has been ...