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Leber Congenital Amaurosis

More information in Books or onNLM PubMed
Definition: A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.      Other names Leber Congenital Amauroses; Congenital Amaurosis, Leber; Congenital Amauroses, Leber; Amaurosis, Leber Congenital; Amauroses, Leber Congenital
 
SubstanceCAS Registry & nameCategoriesSource
Senior Loken Syndrome  0   *Optic Atrophies, Hereditary *Kidney Diseases, Cystic *Leber Congenital Amaurosis.
Leber congenital amaurosis, type 4  0   *Leber Congenital Amaurosis.
Leber congenital amaurosis type 3  0   *Leber Congenital Amaurosis.
Amaurosis hypertrichosis  0   *Hypertrichosis *Retinitis Pigmentosa *Leber Congenital Amaurosis.
Amaurosis congenita of Leber, type 9  0   *Leber Congenital Amaurosis.
Amaurosis congenita of Leber, type 5  0   *Leber Congenital Amaurosis.
Amaurosis congenita of Leber, type 2  0   *Leber Congenital Amaurosis.
Amaurosis congenita of Leber, type 1  0   *Leber Congenital Amaurosis.
AIPL1 protein, human  0   *Carrier Proteins *Eye Proteins Leber Congenital Amaurosis. Nat Genet 2000 Jan;24(1):79-83

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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