Understanding Leber Congenital Amaurosis
Leber Congenital Amaurosis (LCA) is an inherited retinal degenerative disorder that causes an infant to be born with severely impaired vision. The infant may also be born with or develop roving or jerking involuntary eye movements. There is no significant treatment and the child may benefit from the use of low-vision aids.
Facts about Leber Congenital Amaurosis
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.
Given the severity of the condition, it is one of the most extensively researched inherited retinal disorders.
Electroretinography (ERG) testing, which detects function of the retina, is important in measuring if the child can see and how much.
What are the symptoms of Leber Congenital Amaurosis?
Children may poke their eyes or press on them with their fists or fingers. This may lead to misshapen and thinned corneas and a sunken appearance of the eyes. The level of vision remains stable once childhood is past. Vision may only be at the level of seeing light and dark or detecting hand motions. Diagnosis can be difficult and can be hard to distinguish what is vision and what is behaviour in an infant or child.
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