Gourt > Health > Conditions and Diseases > Eye Disorders > Retina > Leber's Congenital Amaurosis
Leber's congenital amaurosis is a rare inherited eye disease that appears at birth or in the first few months of life, typically characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. It is an autosomal recessive disorder thought to be caused by abnormal development of photoreceptors.
Leber's congenital amaurosis is sometimes confused with Leber's hereditary optic neuropathy, which is a different disease also first described by Theodore Leber in the 19th century.
See also
More on [ Leber's congenital amaurosis ]
Leber's Optic Neuropathy :: Optic Nerve
Genetic Disorders
Excellent blog written by a great mom about her infant son, Gavin, who has Leber's Congenital Amaurosis http://gavinrobert.blogspot.com/
drcathywittman (Cathy Wittman OD) Thu, 19 Nov 2009 12:22:32 -0000
Excellent blog written by a great mom about her infant son, Gavin, who has Leber's Congenital Amaurosis http://gavinrobert.blogspot.com/
EyeRounds - Listen to Dr. Edwin Stone deliver a presentation on the disease, its genotype, and current genetic breakthroughs.
Foundation Fighting Blindness - Includes clinical information, inheritance patterns, and ongoing research for treatments.
Foundation for Retinal Research - Information about the condition (along with background about heredity and eye function), resources for families, and solicitation for donations to fund research.
Meta Description: [ leber's leber's leber's leber's leber's leber's leber's The Foundation for Retinal Research - Walking With A Vision. More than six million people in the United States alone are blind or visually impaired from degenerative retinal diseases. These groups of diseases, which include Macular Degenerat... ]
Gene Reviews - Description of the genes responsible for causing LCA, including information about genetic testing and differential diagnoses.
LCA Blog - A patient's journal, mainly focusing on research breakthroughs and news updates.
National Institutes of Health - Real Video archive of the December 13, 2005 presentation to the NIH regarding gene therapy research and trials for LCA. Clicking this link will begin download.
OMIM - Information about the disease, focusing on gene mutations and associated symptoms. Links to numerous full-text research reports.
The CAF Directory - A description of the disease and its inheritance patterns.
Meta Description: [ Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. ]
Yahoo Groups: LCA - For those interested in sharing and sourcing information relating to this genetic disorder. Includes a chat, photos, and a message board.
Meta Description: [ LCA: A listserv for everyone interested in sharing and sourcing information relating to the genetic disorder Leber's Congenital Amau ]
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