Leber's Congenital Amaurosis
What is Leber's Congenital Amaurosis?
LCA is an inherited retinal disease that effects the eyes. This disease/disorder causes severe loss of vision at birth, which affects 2-3 out of 100,000 newborns per year.
Some of leber's congenital amaurosis's symptoms are:
- lack of visual response
- unusual roving eye movements
- deep-set eyes
- sensitivity to light
- sluggish pupillary respnses
What Is the Cause of LCA?
Each parent that carries the autosomal recessive pattern of inheritance has 1 mutated gene (scientifically known as the RPE65 gene) that carries the LCA disorder. Though they carry the gene, they show no sign of the disorder. When a child is born with two of the mutated genes , they fully show the signs of leber's congenital amaurosis. 2-3 out of every 100,00 newborns are born with this. It can be diagnosed by clinical findings.