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
- Leber congenital amaurosis 1
- Leber congenital amaurosis 10
- Leber congenital amaurosis 11
- Leber congenital amaurosis 12
- Leber congenital amaurosis 13
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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 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. 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.Leber congenital amaurosis is an eye disorder that primarily affects the
Last updated: 6/16/2016
- Leber congenital amaurosis. Genetics Home Reference. August 2010; http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis.
- Weleber RG, Francis PJ & Trzupek KM. Leber Congenital Amaurosis. GeneReviews. 2013; http://www.ncbi.nlm.nih.gov/books/NBK1298/.
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic eye diseases.
- Genetics Home Reference (GHR) contains information on Leber congenital amaurosis. This website is maintained by the National Library of Medicine.
- 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.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- 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.