Abstract
Leber congenital amaurosis describes a group of congenital retinal degenerations that cause significant visual loss. Advances in molecular genetics have helped identify mutations in 15 different genes, which together account for 70% of Leber congenital amaurosis cases. These genes are inherited in a predominantly autosomal recessive manner and encode a variety of retinal functions. These genes are exciting new targets for treatment aimed at improving visual function, notably with animal models such as the Briard RPE knockout dog and, more recently, human gene therapy trials.
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The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
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