Leber’s Congenital Amaurosis (LCA) is a rare and severe retinal dystrophy that leads to significant loss of vision early in life. Children with LCA typically see very poorly (in the light or dark) in infancy and develop “nystagmus”, a constant roving movement of the eyes. Oftentimes they may also have photophobia, and as well develop a tendency to poke and press on their eyes. The disease may be stable or progress over time; regardless, vision is almost always severely affected.
LCA is inherited in an autosomal recessive (AR) pattern, and as such the parents of an affected patient (if they themselves are unaffected) are usually carriers for the mutation. There are currently more than 20 genes known to cause LCA, for which genetic testing is available. Recently there have been many exciting discoveries related to treatment for LCA, including gene-therapy and even an oral drug that has been shown in early trials to increase vision in certain types of LCA!
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