Leber Congenital Amaurosis

Severe inherited retinal dystrophy present from infancy

Overview

Leber congenital amaurosis is a group of inherited retinal diseases that cause severe vision impairment from birth or early infancy. Babies may show wandering eye movements, nystagmus, poor visual responses, and a habit of pressing on the eyes. Variants in more than twenty different genes have been linked to it, most inherited in an autosomal recessive pattern. It is historically important in medicine because voretigene neparvovec, approved in the United States in 2017 for disease caused by RPE65 variants, was the first gene therapy approved for an inherited eye disease.