congenital stationary night blindness type 2A

congenital stationary night blindness type 2A

An X-inked, non-progressive retinal disorder (OMIM:300071) characterised by impaired night vision.

Molecular pathology
Defects in CACNA1F on Xp11.23, which encodes the alpha-1F subunit of a voltage-dependent calcium channel, cause congenital stationary night blindness type 2A.
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