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Description: Retinal pigment epithelial (RPE) cells stained red by RPE65 antibody. Mutations in the RPE65 gene can cause a form of Leber congenital amaurosis (LCA), an inherited retinal disease that causes severe visual impairment early in childhood. Credit: National Eye Institute, National Institutes of Health Ref#: EDA25 |
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Description: Retina photo of a patient with Leber congenital amaurosis (LCA), an inherited retinal disease that causes severe visual impairment early in childhood. Special gene testing is necessary to determine if the patient has the RPE65-associated type of the disease. Credit: National Eye Institute, National Institutes of Health Ref#: EDA26 |
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Description: In people with Leber congenital amaurosis, the RPE65 protein, critical for visual function, is not made due to mutations in the corresponding RPE65 gene. Fixing the problem requires isolating the segment of DNA corresponding to normal RPE65 gene and packaging it into a vector made from a virus. The gene–containing vector is injected into the eyeball under the retina, between the retinal pigment epithelium and choroid where it enters the cells of the retina. The vector releases the normal RPE65 gene segment. Credit: National Eye Institute, National Institutes of Health View Animation (60 second Quicktime) Ref#: VA06 |
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