NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2

General Information (adopted from Orphanet):

Synonyms, Signs: CSNBAD2
NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
Number of Symptoms 3
OrphanetNr:
OMIM Id: 163500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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) Mutant rhodopsin or beta subunit of retinal rod cGMP phosphodiesterase 1 / 7739
3
(OMIM) Normal fundi 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rambusch (1909) described a large Danish kindred with autosomal dominant congenital stationary night blindness (CSNB). The ancestor of the family was a farmer born about 1660 in northern Jutland. At the time of the report by Rosenberg et ...
Molecular genetics OMIM Gal et al. (1994) identified the H258N mutation in the PDE6B gene in affected members of the same large Danish family, referred to as the Rambusch pedigree, in which they had demonstrated linkage to chromosome 4p16.3. Gal et ...