NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C

General Information (adopted from Orphanet):

Synonyms, Signs: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
CSNB1C
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613216
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:0007642) Congenital stationary night blindness obligate [HPO:skoehler] 16 / 7739
2
(HPO:0000545) Myopia 286 / 7739
3
(HPO:0007663) Reduced visual acuity 100 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0000512) Abnormal electroretinogram 61 / 7739
6
(HPO:0000964) Eczema 81 / 7739
7
(HPO:0000958) Dry skin 152 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Li et al. (2009) studied 3 families with complete congenital stationary night blindness (CSNB), 1 of South Asian ethnicity and 2 of Caucasian European descent, in which affected members had myopia, reduced central vision, nystagmus, and electroretinographic (ERG) ...
Molecular genetics OMIM In a consanguineous family of South Asian ethnicity with complete CSNB, Li et al. (2009) identified homozygosity for a splice site mutation (603576.0001) in the TRPM1 gene in the affected mother; the father was heterozygous for the mutation. ...