What are the key 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.

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.

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.

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.

What makes Luxturna a suitable treatment for Leber congenital amaurosis?

Luxturna is a treatment for people who have Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by mutations in both copies of the RPE65 gene. Luxturna provides a working RPE65 gene to act in place of the mutated version of the same gene.

How rare is Leber congenital amaurosis?

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.

Is gene therapy a permanent cure?

Gene therapy offers the possibility of a permanent cure for any of the more than 10,000 human diseases caused by a defect in a single gene. Among these diseases, the hemophilias represent an ideal target, and studies in both animals and humans have provided evidence that a permanent cure for hemophilia is within reach.

What is the treatment for amaurosis fugax?

Since amaurosis fugax is usually ascribed to embolism, thrombosis, or chronic carotid arterial hypoperfusion, treatment has usually consisted of anticoagulation with warfarin, antiplatelet therapy with aspirin, or carotid endarterectomy2,3.