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 12 genes causing LCA have been found to date (February 2009) (Basic Rules of Genetics). These genes explain approximately half of the cases of LCA. One of these genes, called RPE65, causes a relatively mild form of LCA and attempts have recently commenced both in the UK and USA (summer 2007) to find 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). It is hoped that this trial will be effective in improving the vision of these people and therefore subsequently lead to the development of similar treatments for other inherited retinal diseases such as RP.
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 12 genes causing LCA have been found to date (February 2009) (Basic Rules of Genetics). These genes explain approximately half of the cases of LCA. One of these genes, called RPE65, causes a relatively mild form of LCA and attempts have recently commenced both in the UK and USA (summer 2007) to find 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). It is hoped that this trial will be effective in improving the vision of these people and therefore subsequently lead to the development of similar treatments for other inherited retinal diseases such as RP.
