NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A

General Information (adopted from Orphanet):

Synonyms, Signs: HEMERALOPIA-MYOPIA
MYOPIA-NIGHT BLINDNESS
NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA
NBM1 NYCTALOPIA, INCLUDED
CSNB, COMPLETE, X-LINKED
CSNB1A
Number of Symptoms 5
OrphanetNr:
OMIM Id: 310500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012047) Hemeralopia 7 / 7739
2
(HPO:0011003) Severe Myopia 31 / 7739
3
(HPO:0007642) Congenital stationary night blindness 16 / 7739
4
(OMIM) Impaired visual acuity 2 / 7739
5
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups ...
Clinical Description OMIM Night blindness is a symptom of several chorioretinal degenerations. (According to the interpretation of some, particularly French-speaking writers, nyctalopia means literally 'seeing at night' and hemeralopia means 'seeing in the day;' hence, nyctalopia is 'dayblindness,' e.g., total colorblindness ...
Molecular genetics OMIM In a study of a large Mennonite family with CSNB1, Bech-Hansen and Pearce (1993) found that 3 of 5 sisters in 1 sibship had typical manifestations of the disorder. All of the sons of these 3 sisters were ...