Leber's Congenital Amaurosis
How is it treated?
A few children may see slightly better with hypermetropic (thick) glasses. However, as this is not a single disorder, there is considerable variation. It is helpful for the child to be referred to a developmental paediatrician who can give parents advice about the best way to stimulate residual vision and who can monitor general development. A referral to a specialist teacher for the visually impaired is also useful. There is unfortunately, currently, no specific treatment available that will improve retinal function. There are however a lot of research studies around the world that are aimed at developing new treatments, Three groups, two in the USA and one in London are currently running clinical trials of gene therapy in a rare form of LCA caused by mutations in a gene called RPE65. The early results have been promising.
How is it diagnosed?
| Inheritance patterns and prenatal diagnosis ![]()