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Genetic and Rare Diseases Information Center (GARD)

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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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Your Question

What are other issues that might come up as our son grows up with Leber congenital amaurosis?

Our Answer

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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

How might the signs and symptoms of Leber congenital amaurosis change over time?

The first signs of LCA typically become apparent in infancy when parents notice a lack of visual responsiveness and unusual eye movements in the affected child. The child's retinas may appear normal during an eye examination at this time, but electroretinography (ERG) tests, which measure visual function, will typically detect little (if any) activity in the retina.

By early adolescence, various changes in the retinas usually become apparent. Blood vessels often become narrow and constricted, and a variety of color changes can also occur in the retinal pigment epithelium. Although the appearance of the retina undergoes significant change with age, vision usually remains fairly stable through young adult life. However, the long term visual prognosis remains unknown.[2]

Some studies suggest that as many as 20% of children with LCA without associated anomalies develop intellectual disability. Whether these individuals represent undiagnosed systemic disorders or a genetic subtype of LCA is still unknown.[3]
Last updated: 7/25/2012

References