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Leber's Congenital Amaurosis
What are the symptoms?
At an early age it may not be possible to differentiate LCA from syndromic disorders where the child may have disability due to a systemic disorder that affects other organs than the eyes. Caution therefore is advised before attaching this diagnostic label in a very young child especially if there are developmental concerns too marked to be explained by vision impairment.
It is difficult to assess residual vision from behaviour in a very young child. Many who are severely visually impaired will develop some useful vision in the first six months. However, over childhood this may gradually be lost. In LCA, it is uncommon to achieve even navigational vision and older children rarely retain sufficient vision to read print.
In more severely visually impaired children who have no vision or only light perception in common with other individuals blind from birth, eye poking behaviour may develop resulting in Keratoconus - the cornea becoming thinned and conical in shape, in the lens becoming cataractous, and in the fat around the eye shrinking leading to a sunken eye appearance.
Background
| What are the causes? 
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