Nature 461, 784-787 (8 October 2009) | doi:10.1038/nature08401; Received 19 June 2009; Accepted 14 August 2009; Published online 16 September 2009

Gene therapy for red–green colour blindness in adult primates

Katherine Mancuso1, William W. Hauswirth2, Qiuhong Li2, Thomas B. Connor3, James A. Kuchenbecker1, Matthew C. Mauck3, Jay Neitz1 & Maureen Neitz1

  1. Department of Ophthalmology, Box 356485, University of Washington, 1959 North East Pacific Street, Seattle, Washington 98195, USA
  2. Department of Ophthalmology and Powell Gene Therapy Center, University of Florida, 1600 South West Archer Road, Gainesville, Florida 32610, USA
  3. Department of Ophthalmology, Medical College of Wisconsin, 925 North 87th Street, Milwaukee, Wisconsin 53226, USA

Correspondence to: Jay Neitz1 Correspondence and requests for materials should be addressed to J.N. (Email: jneitz@uw.edu).

Red–green colour blindness, which results from the absence of either the long- (L) or the middle- (M) wavelength-sensitive visual photopigments, is the most common single locus genetic disorder. Here we explore the possibility of curing colour blindness using gene therapy in experiments on adult monkeys that had been colour blind since birth. A third type of cone pigment was added to dichromatic retinas, providing the receptoral basis for trichromatic colour vision. This opened a new avenue to explore the requirements for establishing the neural circuits for a new dimension of colour sensation. Classic visual deprivation experiments1 have led to the expectation that neural connections established during development would not appropriately process an input that was not present from birth. Therefore, it was believed that the treatment of congenital vision disorders would be ineffective unless administered to the very young. However, here we show that the addition of a third opsin in adult red–green colour-deficient primates was sufficient to produce trichromatic colour vision behaviour. Thus, trichromacy can arise from a single addition of a third cone class and it does not require an early developmental process. This provides a positive outlook for the potential of gene therapy to cure adult vision disorders.


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