NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1

General Information (adopted from Orphanet):

Synonyms, Signs: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED
CSNBAD1
Number of Symptoms 4
OrphanetNr:
OMIM Id: 610445
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
2
(HPO:0007642) Congenital stationary night blindness 16 / 7739
3
(HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
4
(HPO:0001123) Visual field defect 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sieving et al. (1992) studied a large Michigan kindred with no detectable rod vision. Despite the absence of detectable rod function, cone electroretinography (ERG) amplitudes were normal in 5 and only partially reduced in 2 other older individuals. ...
Molecular genetics OMIM In the large kindred reported by Sieving et al. (1992, 1995) the abnormality cosegregated in autosomal dominant fashion with a single-base substitution in codon 90 of rhodopsin: gly90 to asp (180380.0032).

Reasoning that cases of congenital ...