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)
  • retinitis pigmentosa
  • congenital stationary night blindness type 2

Clinical manifestations

• non-progressive retinal disorder
• impaired night vision

More general terms

• congenital night blindness

Additional terms

• voltage-dependent Ca+2 channel alpha-1F (L type, Cav1.4, CACNA1F, CACNAF1)

Database

• OMIM: https://mirror.omim.org/entry/300071
• OMIM: https://mirror.omim.org/entry/163500