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congenital stationary night blindness type 1 X-linked (XLCSNB)
Epidemiology: rare
Genetics:
- associated with defects in nyctalopin gene
Clinical manifestations:
- impaired scotopic vision
- myopia
- hyperopia
- nystagmus & reduced visual acuity
Special laboratory:
- electroretinogram:
- absence of rod b-wave but largely normal cone amplitudes
Related
nyctalopin (NYX, CLRP)
General
congenital stationary night blindness type 1 (CSNB1)
Database Correlations
OMIM 310500
References
OMIM :accession 310500