Leber’s Congenital Amaurosis Fact Sheet
Leber's Congenital Amaurosis is an inherited condition which is present from birth. The extent of vision loss varies, but it can be quite severe and a baby may be born with very poor vision or may even be totally blind.
The vision is affected because of the impaired development of the retina which is the light sensitive film at the back of the eye. It contains receptors called rods and cones, and these receptors respond to light.
The cones are designed to function in high levels of light and give us our central, detailed vision. The rods are designed to function in lower levels of light and give us our peripheral (side) vision. If they are working properly, receptors will send a message back to the brain about the picture that is being seen. If they are not working properly, very few or no messages are transferred to the brain, so very little or nothing is seen.
This is what happens in Leber's Congenital Amaurosis and although the eye will look normal on the outside, it cannot function properly. When the ophthalmologist looks into the eye to see the retina, it may look normal as well. There are tests that the ophthalmologist can conduct to help determine what is wrong, such as electrical testing to measure the potential of the retina to work properly.
Medically at present, nothing can be done to the retina to make it work properly and some visible retinal changes may also occur as the child gets older.
As the child becomes older, they may become long-sighted. However glasses may not be prescribed, because even when the picture is made sharper with the glasses, the retina still cannot send the message to the brain about what they are seeing.
There are other eye findings that are associated with Leber's, such as the eyes roving or moving aimlessly. This condition is called Nystagmus, and the child cannot control these eye movements. The child may also have a habit of poking their eyes to achieve some sort of visual stimulation, like flashes. Eye poking is a common finding in a child who has Leber's. The pupils' responses to light may also be slow.
Changes to the cornea, which is the front surface of the eye, may also occur. The cornea may become more cone-shaped. This condition is called Keratoconus, and can distort any remaining vision. Once again, glasses may not help. A cataract, which is a clouding of the lens of the eye, can develop. A turn in the eye may also occur.
It is recommended that families and children who have Leber's should use vision rehabilitation services to learn the best ways for the children to use their residual vision, or how to compensate for their blindness.
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This page last updated: 20 August 2008