Condition: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E


rs1567725425 in GPR179 gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E PMID 22325361 2012 Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

PMID 22325362 2012 GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.