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congenital stationary night blindness type 2; congenital stationary night blindness Rambusch type (CSNB2, CSNBAD2)
Genetics:
- mutations in voltage-dependent Ca+2 channel-alpha-1F gene (CACNA1F) (type 2A)
- associated with defects in PDE6B (autosomal dominant)
a) retinitis pigmentosa
b) congenital stationary night blindness type 2
Clinical manifestations:
- non-progressive retinal disorder
- impaired night vision
Related
voltage-dependent Ca+2 channel alpha-1F (L type, Cav1.4, CACNA1F, CACNAF1)
General
congenital night blindness
Database Correlations
OMIM correlations
References
OMIM :accession 300071