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Leber congenital amaurosis
Other Names for this Disease
- Congenital absence of the rods and cones
- Congenital retinal blindness
- Leber's amaurosis
- Leber's congenital tapetoretinal degeneration
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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 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. At least 13 types of this condition have been described, which are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.Leber congenital amaurosis is an eye disorder that primarily affects the
Last updated: 7/24/2012
- Leber congenital amaurosis. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis. Accessed 5/12/2011.
- Genetics Home Reference (GHR) contains information on Leber congenital amaurosis. This website is maintained by the National Library of Medicine.
- The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic eye diseases.
- The Foundation for Fighting Blindness provides information on their Web site on leber congenital amaurosis. Click on the link to view this information.
- The Foundation for Retinal Research provides information on their Web site on leber congenital amaurosis. Click on the link to view this information.
In Depth Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.
- Gene Therapy One Year Later: Patients Healthy and Maintain Early Visual Improvement. NIH News. August 12, 2009.