Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.

@article{Genderen2009MutationsIT,
  title={Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.},
  author={Maria M van Genderen and Mieke M. C. Bijveld and Yvonne B. Claassen and Ralph J. Florijn and Jillian N Pearring and Françoise M. Meire and Maureen A. McCall and Frans C. C. Riemslag and Ronald G Gregg and Arthur A. B. Bergen and Maarten Kamermans},
  journal={American journal of human genetics},
  year={2009},
  volume={85 5},
  pages={
          730-6
        }
}
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impaired night vision and variable decreased visual acuity. We report here that six out of eight female probands with autosomal-recessive complete CSNB (cCSNB) had mutations in TRPM1, a retinal transient receptor potential (TRP) cation channel gene. These data suggest that TRMP1 mutations are a major cause of autosomal-recessive CSNB in… CONTINUE READING
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