Prospects for retinal gene replacement therapy

AJ Smith, JW Bainbridge, RR Ali - Trends in Genetics, 2009 - cell.com
Trends in Genetics, 2009cell.com
Inherited retinal degeneration, which includes conditions such as retinitis pigmentosa and
Leber congenital amaurosis (LCA), affects∼ 1/3000 of the population in the Western world.
It is characterized by loss of vision and results from mutations in any one of> 100 different
genes. There are currently no effective treatments, but many of the genes have now been
identified and their functions elucidated, providing a major impetus to develop gene-based
treatments. Preliminary results from three clinical trials indicate that the treatment of a form of …
Inherited retinal degeneration, which includes conditions such as retinitis pigmentosa and Leber congenital amaurosis (LCA), affects ∼1/3000 of the population in the Western world. It is characterized by loss of vision and results from mutations in any one of >100 different genes. There are currently no effective treatments, but many of the genes have now been identified and their functions elucidated, providing a major impetus to develop gene-based treatments. Preliminary results from three clinical trials indicate that the treatment of a form of LCA by gene therapy can be safe and effective. Here, we discuss the potential for treating other forms of retinal degeneration by gene therapy, focusing on the gene defects that are likely to be the most amenable to treatment.
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