Leber’s congenital amaurosis is an inherited condition that causes poor vision. Findings commonly first appear after 2-3 months of age. It affects the rods and cones (cells which detect light) of the retina.
It is rare, being found in 3 cases per 100,000 births. About 10% of all cases of congenital blindness or severely reduced vision in children are caused by Leber’s congenital amaurosis.
The most common early symptom is nystagmus (shaking of the eyes), and it is usually evident within the first few months of life. As a child gets older, poor vision/tracking, sensitivity to light and poking/rubbing of the eyes with a fist or finger may be noted. An ophthalmologist may see sluggish reaction of the pupils, need for glasses, and abnormal appearance of the retina. Other less common findings include cataract, glaucoma, and cornea problems.
Leber’s congenital amaurosis is usually diagnosed by an ophthalmologist based on history and the physical findings on examination. An electroretinogram (ERG) is often utilized to test the function of the rods and cones of the retina and is performed with special equipment. Blood tests for genetic changes can sometimes help make the diagnosis as well as identify carriers of the condition.
There are currently no treatments for most types of Leber’s congenital amaurosis. There have recently been experimental successes using gene therapy for one type of Leber’s congenital amaurosis (RPE65 gene) in both animal models and humans, but this therapy is still in the research phase. Routine examinations by an ophthalmologist are recommended for all patients with Leber’s congenital amaurosis to diagnose/treat other eye problems and prescribe glasses if necessary. Low vision aids to maximize visual function can be very useful for patients. Educational programs and support agencies for the visually impaired and their families are often quite helpful.