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Leber Congenital Amaurosis (LCA)


Leber congenital amaurosis (LCA) is a rare type of inherited eye disorder that causes severe vision loss at birth. It is the most common cause of inherited blindness in childhood, and is found in two to three out of every 100,000 babies. LCA affects both the peripheral rod cells, which allow you to see at night, and the central cone cells, responsible for fine detail and color vision.

LCA is inherited in an autosomal recessive manner, meaning that both parents must carry a defective gene for the condition in order to pass it on to their children. Each of their children has a 25 percent chance of inheriting the two LCA genes (one from each parent) needed to cause the disorder.

Our Approach to Leber Congenital Amaurosis (LCA)

UCSF's ophthalmologists provide comprehensive evaluations and care for all types of eye conditions, from the most common to the rare and complex. They are experts in inherited eye diseases, such as LCA.

A relatively new type of treatment, called gene therapy, can improve vision in patients with one of the genetic mutations that causes LCA. Researchers are working to develop gene therapies to target other LCA-linked mutations.

All patients with LCA may benefit from low-vision aids, mobility training and other supportive care.

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Signs & symptoms

Babies born with LCA have very reduced vision that can often be detected by parents in the first few months of life. They may not respond to visual cues and have roving eye movements, called nystagmus. Many children with LCA habitually press on their eyes with their fists or fingers, which causes eyes to look sunken or deep set.

Less common symptoms include cataracts, corneal abnormality (keratoconus), aversion to light (photophobia), hearing impairment and developmental delays, epilepsy and motor skill impairment. Over time, the retina deteriorates; retinal blood vessels can become thin and narrow and undergo pigmentary changes.


LCA causes an abnormally low electrical response of the retina. An electro-diagnostic tests known as an electroretinogram (ERG) may be recommended to investigate how the retina is working. The electrical activity of the retina is measured under different lighting conditions to determine which part of the retina is not functioning normally. This test requires the eyes to be dilated with special eye drops. A hard contact lens in each eye is also used to measure the eye’s responses to different kinds of light.


Scientists have identified multiple genetic mutations that can cause LCA. Using this information, scientists around the world are working to develop new gene therapies for LCA. Gene therapy is currently available for LCA caused by two mutations in a gene called RPE65, which accounts for about six percent of LCA cases.

Some people with LCA may also benefit from low-vision aids, including electronic, computer-based and optical aids. Orientation and mobility training, adaptive training skills, job placement and income assistance are available through community resources.

UCSF Health medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.

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