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Abstract

Vitamin A has an essential role in vision in that it forms the photosensitive pigments that absorb light and initiate the visual process. However, vitamin A and its analogues also have critical roles in maintaining the structural integrity of the retina. Disruption of the metabolism of vitamin A results in several blinding diseases. This review focuses on our recent studies on the role of a protein critical to the processing of vitamin A, RPE65. The absence or dysfunction of this protein causes the childhood blinding disease Leber congenital amaurosis.

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