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Diseases

Genetic and Rare Diseases Information Center (GARD)

Leber congenital amaurosis


Other Names for this Disease
  • LCA
  • Congenital absence of the rods and cones
  • Congenital retinal blindness
  • Leber's amaurosis
  • Leber's congenital tapetoretinal degeneration
Related Diseases
  • Leber congenital amaurosis 1
  • Leber congenital amaurosis 10
  • Leber congenital amaurosis 11
  • Leber congenital amaurosis 12
  • Leber congenital amaurosis 13
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Leber congenital amaurosis is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger.[1] Different sub-types are described, caused by mutations in different genes. Some of these sub-types are also distinguished by their patterns of vision loss, and related eye abnormalities. Treatment includes correction farsightedness and use of  low-vision aids when possible.[2]
Last updated: 6/16/2016

References

  1. Leber congenital amaurosis. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis.
  2. Weleber RG, Francis PJ & Trzupek KM. Leber Congenital Amaurosis. GeneReviews. 2013; http://www.ncbi.nlm.nih.gov/books/NBK1298/.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Leber congenital amaurosis in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Leber congenital amaurosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • LCA
  • Congenital absence of the rods and cones
  • Congenital retinal blindness
  • Leber's amaurosis
  • Leber's congenital tapetoretinal degeneration
Related Diseases
  • Leber congenital amaurosis 1
  • Leber congenital amaurosis 10
  • Leber congenital amaurosis 11
  • Leber congenital amaurosis 12
  • Leber congenital amaurosis 13
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.