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Leber’s Congenital Amaurosis
Definition of LCA
Leber’s Congenital Amaurosis (LCA) is a rare, hereditary disorder that leads to retinal
dysfunction and visual impairment at an early age – often from birth. Of all the retinal
degenerations, LCA has the earliest age of onset and can be the most severe.
LCA bears the name of Dr. Theodore Leber who first described the condition. The term
amaurosis refers to any condition of blindness or marked loss of vision, especially loss of
vision in which there is little or no change in the appearance of the eye itself.
Cause: LCA is an autosomal recessive disease. This means that both parents must be
carriers of the defective gene that causes LCA. Carriers bear the defective gene but are
not necessarily afflicted with the disease.
Characteristics: A congenital defect exhibited by blindness in one or both eyes. LCA is
sometimes accompanied by light sensitivity and eyes that appear sunken. There will be a
marked reduction in retinal functions on an electroretinogram. LCA is typically
characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or
blindness.
Treatment: Gene therapy treatments are still in the trial phase but there have been
successes.
Wikipedia definition of Leber’s Congenital Amaurosis, Retrieved July 6, 2010,
http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis
LCA, the autosomal link, Retrieved July 6, 2010,
http://www.wonderbaby.org/articles/lca-faq.html
Project 3000/LCA, Retrieved July 6, 2010,
https://www.carverlab.org/project3000
The Foundation for Retinal Research, Retrieved July 6, 2010,
http://tfrr.org/index.php?m=19&PHPSESSID=edaf92021de3b19214a5f501726a1
Cassin, Barbara, Dictionary of eye terminology (2006). Triad Pub., Gainesville, FL.
Prepared by Vicki Herrin