Leber’s Congenital Amaurosis (LCA)

Leber’s congenital amaurosis (LCA) is a rare disease that affects the retinas in babies’ eyes. “Congenital” means it’s present at birth. Babies born with LCA have low vision that gets worse as they grow up. They often lose some or all of their sight. One in three babies with Leber’s congenital amaurosis is born with blindness.

Symptoms of Leber’s congenital amaurosis

Some babies with LCA are born with blindness. Other babies with the condition develop symptoms when they’re about 6 months old. You may not notice any changes in your baby’s vision right away. For example, babies often rub their eyes when they’re tired. But your baby frequently rubbing or poking at their eyes may be an early symptom of LCA. Other symptoms include:

• Misaligned eyes (strabismus)
• Sensitivity to light (photophobia)
• Shaking eyes (nystagmus)
• Your child’s pupils don’t adjust to changes in light (slow or missing pupillary response)

LCA causes

Leber’s congenital amaurosis happens when your baby inherits certain genetic variations that affect how their retinas develop.

The genetic variations affect the process that creates images that your baby sees. Normally, light-detecting cells (photoreceptors) in your baby’s retinas turn light into electrical signals. Your baby’s brain turns the signals into images that they see. Leber’s congenital amaurosis affects that process so there’s less electrical activity (signals). The less electrical activity there is, the less sight your baby has.

Variations in almost 30 different genes can cause Leber’s congenital amaurosis. The variations affect the following genes:

• CEP290
• CRB1
• GUCY2D
• RPE65

LCA is usually an autosomal recessive condition. That means both biological parents have one or more of the changed genes that can cause Leber’s congenital amaurosis.

How doctors diagnose LCA

An eye care specialist will diagnose Leber’s congenital amaurosis. They’ll perform an eye exam to look at your child’s eyes (including inside them). They’ll do an electroretinography (ERG) test to measure the electrical activity in your child’s retinas. They may do an optical coherence tomography (OCT) scan. This test uses reflected light to create images of the back of your baby’s eyes.

Your child’s eye care specialist may do tests to rule out other conditions that can affect your child’s eyes. You might see this referred to as a differential diagnosis. Some conditions they’ll check for include:

• Color blindness
• Drooping eyelids (ptosis)
• Joubert syndrome
• Retinitis pigmentosa
• Zellweger syndrome

Leber’s congenital amaurosis treatment

There’s no cure for Leber’s congenital amaurosis. Your child’s eye specialist will recommend low vision aids if your child can see. Low vision aids include eyeglasses, magnifying glasses and reading prisms.

Your child may be a candidate for gene therapy if genetic tests show they have a changed version of the RPE65 gene. Gene therapy replaces diseased or inactive genes with copies of healthy genes. In some cases, gene therapy introduces new genes into your body to treat a specific disease.

When should my child see their eye care specialist?

Visit an eye care specialist if light seems to hurt their eyes. Babies rub their eyes when they’re tired. But a baby with LCA may rub or poke at their eyes even when they aren’t tired. These are symptoms of Leber’s congenital amaurosis or another eye condition.

Leber’s congenital amaurosis is a progressive disease. That means it gets worse over time. Ask your child’s eye care specialist to explain what changes in your baby’s vision mean that the condition is getting worse.

What can I expect if my child has Leber’s congenital amaurosis?

Your child will need regular eye exams to track any changes in their eyes. An eye care specialist will tell you how often your child will need their eyes examined.

Your child may benefit from early intervention services. These services support children with issues like blindness and low vision. Check out support groups for parents and family members, too. LCA is a rare disease. You may not know many people with children who have blindness or low vision. It may help to connect with people who do.