Gene therapy for red-green colour blindness in adult primates.

Bibliographic Collection: 
Publication Type: Journal Article
Authors: Mancuso, Katherine; Hauswirth, William W; Li, Qiuhong; Connor, Thomas B; Kuchenbecker, James A; Mauck, Matthew C; Neitz, Jay; Neitz, Maureen
Year of Publication: 2009
Journal: Nature
Volume: 461
Issue: 7265
Pagination: 784-7
Date Published: 2009 Oct 8
Publication Language: eng
ISSN: 1476-4687
Keywords: Aging, Animals, Color Perception, Color Vision, Color Vision Defects, Female, Genetic Therapy, Genetic Vectors, Humans, Male, Opsins, Retina, Saimiri, Transgenes, Treatment Outcome

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 experiments 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.

DOI: 10.1038/nature08401
Alternate Journal: Nature