NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D

General Information (adopted from Orphanet):

Synonyms, Signs: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
CSNB1D
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613830
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) Normal or mildly reduced cone responses under photopic conditions 1 / 7739
3
(OMIM) Funduscopic examination normal 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Night blindness beginning in early childhood 1 / 7739
6
(OMIM) Absent a- and b-waves under scotopic conditions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no ...
Clinical Description OMIM Riazuddin et al. (2010) studied 5 affected individuals from 4 sibships of a large consanguineous Pakistani pedigree from the Punjab province who reported night blindness with normal daytime vision since early childhood. Detailed ocular examination in 4 of ...
Molecular genetics OMIM In affected members of a large consanguineous Pakistani pedigree with CSNB mapping to chromosome 15q22.2-q26.1, Riazuddin et al. (2010) analyzed candidate genes and identified homozygosity for a 2-bp deletion in the SLC24A1 gene (603617.0001). The mutation segregated with ...