Leber's Congenital Amaurosis

Genetic Disorder

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:

  1. lack of visual response
  2. unusual roving eye movements
  3. deep-set eyes
  4. sensitivity to light
  5. 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.

What Does LCA Look Like?

Is It Cureable?

Gene Therapy

Leber's congenital amaurosis is not a disease that can be cured. However, there is a treatment plan for it. Gene therapy is just that. It is a series of injections that is mixed with the RPE65 gene and other medications. It can improve vision and lessen the severity of LCA.