Leber Congenital Amaurosis: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Leber Congenital Amaurosis?
An ophthalmologist, a doctor who treats eye disease, usually leads care for Leber Congenital Amaurosis. A retina specialist who is an expert in inherited retinal diseases, an eye doctor who focuses on the back of the eye, can refer you to a treatment center. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Leber congenital amaurosis?
Leber congenital amaurosis (LCA) is a group of inherited eye diseases. They cause severe vision loss very early in life. LCA affects the retina, the tissue at the back of the eye that detects light and color.
LCA usually means vision loss in the first year of life. A related condition, early-onset severe retinal dystrophy, means vision loss between ages 1 and 5. LCA is rare. It occurs in two to three in 100,000 newborns.
Symptoms
A baby with LCA often does not respond to sight the way other babies do. This is usually the first sign. Affected infants are often blind at birth. Other signs can include:
- Nystagmus, which is rapid, involuntary eye movements.
- Photophobia, which is unusual sensitivity to light.
- Extreme farsightedness, which makes near objects hard to see.
- Strabismus, which means the eyes do not point in the same direction.
- Pupils that react slowly to light, or not at all.
- Cataracts, which are clouding of the lens of the eye, and keratoconus, a cone shape to the front of the eye.
Many children with LCA poke, press, or rub their eyes with a finger or knuckle. Doctors call this Franceschetti's oculo-digital sign. It often makes flashes of light called phosphenes. Researchers suspect this may make the eyes look deep set. Repeated eye rubbing may also raise the risk of keratoconus, so it may be discouraged.
Some types of LCA stay about the same over time. Others get worse. Some children also have hearing loss or developmental delay.
Causes and who gets it
LCA is caused by changes in genes. Changes in one of many different genes can cause it. These genes are needed for normal vision. They help the retina grow and work. The CEP290, CRB1, GUCY2D, and RPE65 genes are among the most common causes. A gene change may not be found in 20 to 30 percent of people.
LCA is usually autosomal recessive. This means a child gets a changed gene from each parent. The parents are carriers, and they usually have no symptoms. Less often, one changed gene is enough to cause LCA. This is called autosomal dominant inheritance. LCA affects males and females equally.
How doctors diagnose it
An eye doctor checks how well the retina works with electroretinography (ERG). This test measures the electrical activity of the retina. Babies with LCA have little or no activity. Genetic testing looks for gene changes linked to LCA and can confirm the diagnosis. Similar signs can also be part of a syndrome that affects other organs, so a careful exam matters.
Treatment
For most people, there is no way yet to prevent or stop vision loss from LCA. Care starts with an accurate eye and genetic diagnosis. A team of eye specialists, genetic counselors, and support groups helps with work, school, and family life. Doctors also watch for related health problems, such as kidney problems or hearing loss.
One gene therapy exists. Luxturna is approved by the U.S. Food and Drug Administration (FDA) for children and adults with two changes in the RPE65 gene. This includes a type of LCA called LCA2. It is injected under the retina to give cells a working copy of the gene. An ophthalmologist with experience in this treatment must do it.
Other care helps day to day. Glasses or contact lenses can correct vision. Low-vision specialists can teach tools and technology that help. Young children can join early intervention programs for children with visual impairment. These programs may help prevent learning delays. Genetic counseling is recommended for families of affected children.
When to see a doctor
See a doctor soon if a baby seems to see poorly, has rapid eye movements, or is very sensitive to light. Tell your child's doctor if your child often pokes or rubs the eyes. An eye doctor can check for LCA, and genetic testing can confirm it.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can arrange eye and genetic specialist visits, keep track of care across specialists, and watch for related health issues like hearing loss.
Common questions
Is there gene therapy for Leber congenital amaurosis?
Yes, for some people. The FDA approved the gene therapy Luxturna in 2017 for children and adults with two changes in the RPE65 gene. Researchers are testing other gene therapies.
Why do children with Leber congenital amaurosis rub their eyes?
Poking, pressing, and rubbing the eyes often makes flashes of light called phosphenes. This gives the child some visual stimulation without normal vision. But frequent eye rubbing may raise the risk of keratoconus, so it may be discouraged.
Can vision loss from Leber congenital amaurosis be stopped?
Not yet, for most people. There is no way yet to prevent or stop it. Luxturna is an option for people with two RPE65 gene changes. Glasses, low-vision aids, and school support can also help.
Sources
- MedlinePlus Genetics - Leber congenital amaurosis
- National Organization for Rare Disorders (NORD) - Leber Congenital Amaurosis
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
