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      Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

      Progress in Retinal and Eye Research

      Elsevier BV

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          Abstract

          Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid isomerase enzyme essential for the production of chromophore which forms the visual pigment in rod and cone photoreceptors of the retina. Congenital loss of chromophore production due to RPE65-deficiency together with progressive photoreceptor degeneration cause severe and progressive loss of vision. RPE65-associated LCA recently gained recognition outside of specialty ophthalmic circles due to early success achieved by three clinical trials of gene therapy using recombinant adeno-associated virus (AAV) vectors. The trials were built on multitude of basic, pre-clinical and clinical research defining the pathophysiology of the disease in human subjects and animal models, and demonstrating the proof-of-concept of gene (augmentation) therapy. Substantial gains in visual function of clinical trial participants provided evidence for physiologically relevant biological activity resulting from a newly introduced gene. This article reviews the current knowledge on retinal degeneration and visual dysfunction in animal models and human patients with RPE65 disease, and examines the consequences of gene therapy in terms of improvement of vision reported. Copyright 2010 Elsevier Ltd. All rights reserved.

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          Author and article information

          Journal
          Progress in Retinal and Eye Research
          Progress in Retinal and Eye Research
          Elsevier BV
          13509462
          September 2010
          September 2010
          : 29
          : 5
          : 398-427
          Article
          10.1016/j.preteyeres.2010.04.002
          2903652
          20399883
          © 2010

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