NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B

General Information (adopted from Orphanet):

Synonyms, Signs: NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE
CSNB, INCOMPLETE, AUTOSOMAL RECESSIVE
CSNB2B
Number of Symptoms 8
OrphanetNr:
OMIM Id: 610427
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:0000613) Photophobia 158 / 7739
2
(HPO:0000505) Visual impairment 16960802 IBIS 297 / 7739
3
(HPO:0000551) Abnormality of color vision rare [HPO:skoehler] 20 / 7739
4
(HPO:0000639) Nystagmus 16960802 IBIS 555 / 7739
5
(HPO:0007642) Congenital stationary night blindness 16960802 IBIS 16 / 7739
6
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
7
(HPO:0007984) Reduced amplitude of dark-adapted bright flash electroretinogram b-wave 16960802 IBIS 3 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Congenital stationary night blindness, a nonprogressive retinal disorder characterized by impaired night vision and ocular symptoms such as myopia, hyperopia, nystagmus, and reduced visual acuity, can be classified into 2 types: a complete form (see CSNB1, 310500) and ...
Molecular genetics OMIM Zeitz et al. (2006) detected mutations in the CABP4 gene in both families examined with CSNB2B. The affected brothers in the first family were homozygous for a 2-bp deletion (800-801delAG; 608965.0001); the patient from the first family carried ...