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Leber Congenital Amaurosis

Brief details of Leber congenital amaurosis will be given below. Further information can be obtained on the website link at the bottom of the page.

Leber congenital amaurosis (LCA) is an inherited retinal disease that causes children to have poor vision and wobbly-eyes (nystagmus) either at birth or in the first few months of life. LCA is the most common inherited cause of severe visual impairment in children.

LCA has many similarities to retinitis pigmentosa and many eye doctors consider it to be an early-onset form of RP. In keeping with RP, it is a slowly progressive condition that also has several forms, each with different genetic causes.

The majority of people with LCA develop pigmentation of the retina and pale optic nerves over time that is similar to the changes seen in people with RP (Visible Signs of Retinitis Pigmentosa and Figure 5).

LCA has an autosomal recessive inheritance pattern and 17 genes causing LCA have been found to date (May 2013) (Basic Rules of Genetics). These genes explain approximately 60-70 per cent of the cases of LCA. One of these genes, called RPE65, causes a relatively mild form of LCA, and three clinical trials (one in the UK and two in the USA have been undertaken to assess the safety and effectiveness of a treatment for this form of LCA, by injecting a replacement RPE65 gene into the retina of people who have been identified as having LCA due to a defective RPE65 gene (Gene Therapy Trials). These trials have shown this approach to have acceptable safety and all studies showed evidence of improvements in retinal sensitivity and visual function. Despite the degree of improvement being variable, often modest, and not always maintained, the results of these three trials are very encouraging indeed, and support the continued efforts to optimise and develop Gene Therapy approaches which are hoped to be applied to other inherited retinal diseases such as RP.

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