Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

@article{Haider2000MutationOA,
  title={Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate},
  author={Neena B. Haider and Samuel G. Jacobson and Artur V. Cideciyan and Ruth E. Swiderski and Luan M. Streb and Charles C Searby and Gretel Beck and Robin R. Hockey and David B. Hanna and Susan Wilkie Gorman and David M. Duhl and Rivka Carmi and Jean Bennett and Richard G. Weleber and Gerald Allen Fishman and Alan F. Wright and Edwin M. Stone and Val C. Sheffield},
  journal={Nature Genetics},
  year={2000},
  volume={24},
  pages={127-131}
}
Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function. Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of photoreceptors. ESCS is an autosomal recessive retinopathy in which patients have an increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone… CONTINUE READING
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