Leber Congenital Amaurosis

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.

What are the symptoms of Leber Congenital Amaurosis in children?

  • There can be a noticeable a lack of visual responsiveness and the inability to focus.
  • Unusual roving eye movements.
  • Eye pressing and poking.
  • Blood vessels often become narrow and constricted.

  • What causes Leber Congenital Amaurosis in children?

  • It is an inherited condition where both parents carry the defected gene.
  • Each of their children has a 25 percent chance of inheriting the two LCA genes (one from each parent) needed to cause the disorder.
  • Currently, detection of the carriers of the gene is not possible until after the birth of the effected child.
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    One thought on “Leber Congenital Amaurosis

    1. I would also like to add that there are now 19 different known types of LCA. There is a cure for one – RPE65 through gene therapy. Others are in the works, and within the next 5-10 years we should see more cures happening for LCA. Carver Lab in Iowa can test children/adults to find out what gene they have affected (each different type comes with its unique set of problems) – if they are one of the 19 discovered. More genes are being discovered all the time. There are other labs across the country that are also testing blood samples to locate the gene affected, so ask your retinal specialist/eye professional if genetic testing is something you are interested in.

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