NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F

General Information (adopted from Orphanet):

Synonyms, Signs: CSNB1F
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615058
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:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
2
(HPO:0000545) Myopia 286 / 7739
3
(HPO:0007642) Congenital stationary night blindness 16 / 7739
4
(OMIM) No response to dim stimuli in dark-adapted state on electroretinography 1 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Cone-driven 29-Hz flicker ERG with broadened trough and mildly delayed implicit time 1 / 7739
7
(OMIM) Reduced positive component (b-wave) on electroretinography 1 / 7739
8
(OMIM) Preserved negative component (a-wave) on electroretinography 1 / 7739
9
(MedDRA:10038897) Retinal tear 1 / 7739
10
(OMIM) Cone-driven 1-Hz response with unusual waveform on electroretinography 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zeitz et al. (2013) studied a 45-year-old woman who from childhood had visual blurring and night-vision disturbances. At age 4 years, she had surgery for strabismus of the right eye and was prescribed glasses for myopia. At age ...
Molecular genetics OMIM In a 45-year-old woman with a diagnosis of complete CSNB who was negative for mutation in known CSNB genes, Zeitz et al. (2013) performed whole-exome sequencing and identified compound heterozygosity for a missense and a nonsense mutation in ...