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Leber congenital amaurosis

Other Names for this Disease
  • Congenital absence of the rods and cones
  • Congenital retinal blindness
  • LCA
  • Leber's amaurosis
  • Leber's congenital tapetoretinal degeneration
More Names
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What are the signs and symptoms of Leber congenital amaurosis?

Leber congenital amaurosis (LCA primarily affects the retina, the specialized tissue at the back of the eye that detects light and color. Beginning in infancy, affected individuals typically have severe visual impairment. This is most often non-progressive, but sometimes it very slowly worsens over time. Other vision problems associated with LCA include photophobia, nystagmus, and extreme farsightedness (hyperopia). Additionally, the pupils may not react normally to light; they may expand and contract more slowly than normal, or they may not respond to light at all. Keratoconus, a condition in which the cornea is cone-shaped and abnormally thin, may also be present.

A specific behavior called Franceschetti's oculo-digital sign is characteristic of LCA. This behavior consists of poking, pressing, and rubbing the eyes with a knuckle or finger. It may possibly contribute to deep-set eyes and keratoconus in affected children.

In rare cases, delayed development and intellectual disability have been reported in people with the features of LCA. However, it is unclear whether these individuals actually have LCA or another syndrome with similar signs and symptoms.[1]
Last updated: 7/25/2012

  1. Leber congenital amaurosis. Genetics Home Reference. August 2010; Accessed 7/26/2012.