congenital stationary night blindness type 1D

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congenital stationary night blindness type 1D

An autosomal recessive form (OMIM:613830) of congenital stationary night blindness, which is characterised by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have normal range of visual acuity without myopia or nystagmus.  

Molecular pathology
Caused by defects of SLC24A1, which encodes a potassium-dependent sodium/calcium exchanger, a critical component of the visual transduction cascade that controls the calcium concentration of outer segments during light and darkness, acting on retinal rod and cone photoreceptors.