What is the Leber congenital amaurosis?
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy.
How is Leber congenital amaurosis treated?
Voretigene neparvovec-rzyl (Luxturna™) is the gene therapy product injected underneath the retina, allowing a new, functional copy of the gene to pass into the appropriate cells. It is the first gene therapy approved by the US Food and Drug Administration (FDA) to treat a disease.
Is Lebers congenital amaurosis degenerative?
Leber Congenital Amaurosis (LCA) is a rare inherited retinal degeneration. It appears at birth or in the first few months of life with loss of vision, which varies from person to person and can be quite severe (with little to no light perception). In some cases, blindness can occur in infancy.
Is Leber congenital amaurosis a type of retinitis pigmentosa?
Leber congenital amaurosis (LCA) is a group of inherited retinal diseases characterized by severe impairment vision or blindness at birth. Some retinal experts consider LCA to be a severe form of retinitis pigmentosa (RP).
How is Leber congenital amaurosis diagnosed?
How is Leber congenital amaurosis diagnosed? A test known as electroretinography (ERG) can help doctors to assess how well a child’s retina is working. Infants with LCA will have abnormally low or no electrical activity due to problems with their photoreceptors. Genetic testing can help to confirm a diagnosis of LCA.
What is amaurosis fugax caused by?
Amaurosis fugax can occur from different causes. One cause is when a blood clot or a piece of plaque blocks an artery in the eye. The blood clot or plaque usually travels from a larger artery, such as the carotid artery in the neck or an artery in the heart, to an artery in the eye.
What do you need to know about Leber congenital amaurosis?
From Genetics Home Reference. Learn more Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy.
What are the different types of congenital amaurosis?
The different subtypes are caused by mutations in different genes. Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities. Treatment includes correction farsightedness and use of low-vision aids when possible. 
Are there any Orphan Products for congenital amaurosis?
Learn more orphan products. FDA-approved indication: An adeno-associated virus vector -based gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation -associated retinal dystrophy. Patients must have viable retinal cells determined by a treating physician.
Is the Leber congenital neuropathy the same condition?
It should not be confused with Leber Hereditary Optic Neuropathy described by the same physician in 1871. Genetic testing before pregnancy or prenatal testing can identify patients at risk of passing this condition on to offspring.