NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B

General Information (adopted from Orphanet):

Synonyms, Signs: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
CSNB1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE
Number of Symptoms 5
OrphanetNr:
OMIM Id: 257270
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:0000545) Myopia 286 / 7739
2
(HPO:0007642) Congenital stationary night blindness 16 / 7739
3
(HPO:0012047) Hemeralopia 7 / 7739
4
(HPO:0000662) Nyctalopia 92 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gassler (1925) constructed an instructive pedigree of an inbred Swiss kindred with night blindness and myopia which was reproduced by Francois (1961). Merin et al. (1970) and Der Kaloustian and Baghdassarian (1972) reported instructive families. Weleber and Tongue ...
Molecular genetics OMIM Dryja et al. (2005) analyzed the GRM6 gene (604096) in 26 unrelated patients with a prior diagnosis of congenital stationary night blindness. A 37-year-old Greek man, previously reported by Barnes et al. (2002), was found be homozygous for ...