What is Leber’s congenital amaurosis?
Leber's Congenital Amaurosis (LCA) 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.
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What causes LCA?
Children born with LCA have poor vision because of the impaired development of the retina which is the light sensitive film at the back of the eye. The retina 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.
How is LCA diagnosed?
The inside and outside of the eye may look normal, so electrophysical tests may be necessary to identify if the retina is malfunctioning.
Are there any treatments available?
Medically at present, nothing can be done to the retina to make it work properly.
Are there any associated eye conditions?
- Nystagmus – involuntary eye movements.
- Eye poking - The child may have a habit of poking their eyes to achieve some sort of visual stimulation, like flashes.
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