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congenital stationary night blindness 1D

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.
Uniprot Description An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus.
Mondo Term and Equivalent IDs
MONDO:0013450:  congenital stationary night blindness 1D
UMLS:C3151193: