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.