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Leber's Congenital Amaurosis

What is Leber Congenital Amaurosis?

Leber Congenital Amaurosis (LCA) is an inherited condition in which findings commonly first appear after 2-3 months of age. LCA affects both the rods and cones (cells which detect light) of the retina.

How common is LCA?

It is rare (3 cases per 100,000 births). About 10% of cases of congenital blindness or severely-reduced vision are caused by LCA.

How is LCA inherited?

LCA is usually inherited in an autosomal recessive fashion. Both parents carry one copy of a recessive gene. If both parents are normal-sighted but carry the recessive gene, there is a 25% chance that each child will have LCA. A number of genetic defects have been found that cause LCA - most inherited in a recessive fashion. A rare form of dominant inheritance has been reported.

What are the symptoms and signs of LCA?

The most common early symptom is nystagmus (shaking of the eyes) and 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. The 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.

How is LCA diagnosed?

LCA is usually diagnosed by an ophthalmologist, based on the history and the physical findings. 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.

How is LCA treated?

There is currently no treatment for LCA. Routine examinations by an ophthalmologist are recommended to diagnose/treat other eye problems and prescribe glasses if necessary. Low vision aids may be utilized to maximize vision function. Educational programs and support agencies for the visually impaired (and family) are often quite helpful.

What is vision like for people with LCA?

Best attainable vision is somewhat variable for people with LCA. Vision is typically 20/200 or less while no light perception is less common. Vision sometimes improves slightly in the first years of life as the brain develops but usually plateaus or even deteriorates.

Are there other physical problems associated with LCA?

Neurologic, skeletal, muscular, heart, ear, and kidney abnormalities have been reported in association with LCA. Most children with LCA have normal intelligence.

Is there research being done to learn more about LCA?

Research at the molecular level has aided in the understanding of LCA. Currently there is no treatment available. Gene replacement therapy research is currently being conducted in animal models. However, research (including gene replacement therapy) may lead to more promising results.