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RPE65-associated Leber Congenital Amaurosis (LCA)

What is RPE65-associated Leber congenital amaurosis (LCA)?

Leber congenital amaurosis (LCA) is a severe dystrophy of the retina. It typically becomes evident in the first year of life. LCA is rare, hereditary, and caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the enzyme essential for the production of visual pigment of the retina. RPE65-associated LCA accounts for 8% of all LCA cases.

What are the symptoms of RPE65-associated Leber congenital amaurosis (LCA)?

Common symptoms of LCA are:
  • Reduced visual acuity (20/200 to bare light perception)
  • Night blindness
Common observable signs include:
  • Poor fixation, as an infant
  • Nystagmus
  • Eye rubbing
  • Keratoconus
  • Pink disks
  • Sluggish pupils
  • Variable fundus appearance
  • Non-recordable ERG

What causes RPE65-associated Leber congenital amaurosis (LCA)?

LCA is an autosomal recessive disorder.

What are the treatments for RPE65-associated Leber congenital amaurosis (LCA)?

To date, no substantial treatment or cure for LCA exists. However, current trials for gene therapy are underway for RPE65-associated LCA.

Where can I find out more about RPE65-associated Leber congenital amaurosis (LCA)?

RPE65-associated Leber Congenital Amaurosis (LCA) Articles

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