What are the characteristics of Leber congenital amaurosis?

Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes ( nystagmus ), and extreme farsightedness.

What mutation causes Leber congenital amaurosis?

When Leber congenital amaurosis is caused by mutations in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.

Is Leber congenital amaurosis a disease?

Leber congenital amaurosis (LCA) is a rare type of inherited eye disorder that causes severe vision loss at birth. It is the most common cause of inherited blindness in childhood, and is found in two to three out of every 100,000 babies.

How do you treat Leber congenital amaurosis?

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.

What causes amaurosis fugax?

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.

Is amaurosis fugax serious?

Although amaurosis fugax is a fleeting condition that causes symptoms lasting anywhere from a few minutes to an hour, it is often a concerning indicator of an underlying medical condition. This includes an increased risk for stroke, which can be deadly.

Does gene therapy change DNA?

Gene therapy is the introduction, removal or change in genetic material— DNA or RNA—into the cells of a patient to treat a specific disease. The genetic material that is delivered has instructions to change how a protein—or group of proteins—is produced by the cell.

Who is the founder of Leber congenital amaurosis?

Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. It affects about 1 in 40,000 newborns. LCA was first described by Theodor Leber in the 19th century.

How does Leber congenital amaurosis affect the retina?

Leber congenital amaurosis (LCA) primarily affects the retina, the specialized tissue at the back of the eye that detects light and color. Beginning in infancy, people with LCA typically have severe visual impairment. This is most often non-progressive, but sometimes it very slowly worsens over time.

Are there any clinical trials for mitochondrial diseases?

Ocular involvement is a frequent feature in mitochondrial diseases and corresponds to severe and irreversible visual handicap due to retinal neuron loss and optic atrophy. Interestingly, three clinical trials for Leber Congenital Amaurosis due to RPE65 mutations are ongoing since 2007.

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.