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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal retinal pigmentation 90%
Optic atrophy 90%
Visual impairment 90%
Abnormal electroretinogram 50%
Abnormality of neuronal migration 50%
Aplasia/Hypoplasia of the cerebellum 50%
Cataract 50%
Decreased corneal thickness 50%
Encephalocele 50%
Hemiplegia/hemiparesis 50%
Muscular hypotonia 50%
Nystagmus 50%
Seizures 50%
Cognitive impairment 7.5%
Hearing impairment 7.5%

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Leber congenital amaurosis. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis. Accessed 7/26/2012.


Other Names for this Disease
  • Congenital absence of the rods and cones
  • Congenital retinal blindness
  • LCA
  • Leber's amaurosis
  • Leber's congenital tapetoretinal degeneration
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.