Leber congenital amaurosis is an eye disorder that primarily affects the retina. The retina is located at the back of the eye and is a tissue which detects light and colour. Most children who are effected by this condition have a severe visual impairment which is present from birth. Other problems associated with this disorder are involuntary movements of the eyes and extreme farsightedness. The pupils do not respond to light as with a normal eye, the contracting and expanding happens at a much slower rate. The extent of the visual impairment in most cases remains the same but can on occasion worsen.
Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns and it is one of the most common causes of blindness in children. LCA is an inherited retinal degenerative disease. This condition can make children ‘eye press/rub’ which can cause the appearance of deep set eyes.