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.

单词	congenital stationary night blindness type 1d
释义	congenital stationary night blindness type 1D 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.
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