Genetic basis of total colourblindness among the Pingelapese islanders

  title={Genetic basis of total colourblindness among the Pingelapese islanders},
  author={Olof H. Sundin and Jun-ming Yang and Yingying Li and Danping Zhu and Jane Hurd and Thomas N. Mitchell and Eduardo da Silva and Irene Hussels Maumenee},
  journal={Nature Genetics},
Complete achromatopsia is a rare, autosomal recessive disorder characterized by photophobia, low visual acuity, nystagmus and a total inability to distinguish colours. In this disease, cone photoreceptors, the retinal sensory neurons mediating colour vision, seem viable but fail to generate an electrical response to light. Achromatopsia, or rod monochromatism, was first mapped to 2p11–2q12 (MIM 216900; ref. 3), where it is associated with missense mutations in CNGA3 (ref. 4). CNGA3 encodes the… CONTINUE READING


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