MEDICAL DICTIONARY
Cone dystrophy: A disease of the cones, the specialized light-sensitive cells that act as photoreceptors in the retina of the eye , providing sharp central vision and color vision. The cone dystrophies are a form of genetic macular degeneration characterized by progressive deterioration of the cones that leads to the distinctive triad of loss of color vision, photophobia , and reduced central vision. Cone dystrophy genes have been mapped to chromosome regions 6p21.1, 6q25-q26, 17p12-13, and Xp21.1-p11.3. In region 6p21.1, mutations have been found in the gene that encodes GCAP1, a key component in the recovery of photoreceptor cells to the dark-adapted state after exposure to a light stimulus.
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