amaurosis congenita of Leber

Also found in: Dictionary, Thesaurus, Encyclopedia.
Related to amaurosis congenita of Leber: Leber hereditary optic neuropathy


loss of sight without apparent lesion of the eye, as from disease of the optic nerve, spine, or brain.
amaurosis conge´nita (amaurosis congenita of Leber) (congenital amaurosis) hereditary blindness occurring at or shortly after birth, associated with an atypical form of diffuse pigmentation and commonly with optic atrophy and attenuation of the retinal vessels.
amaurosis fu´gax sudden temporary or fleeting blindness.
Leber's congenital amaurosis amaurosis congenita.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

am·au·ro·sis con·gen·'ita of Le·ber

(lā'bĕr), [MIM*204000 & MIM*204100]
a disorder of cone-rod abiotrophy causing blindness or severely reduced vision at birth; autosomal recessive inheritance with at least three different loci. Type I is caused by mutation in the gene for retinal guanylate cyclase (GUC2D) on chromosome 17p, type II by mutation in the gene for retinal pigment epithelium-specific 65-kD protein (RPE65) on 1p, and type III by mutation in the gene for photoreceptor-specific homeobox gene CRX on 19q.
Farlex Partner Medical Dictionary © Farlex 2012


Theodor, German ophthalmologist, 1840-1917.
amaurosis congenita of Leber - an autosomal recessive cone-rod abiotrophy causing blindness or severely reduced vision at birth.
Leber hereditary optic atrophy - hereditary degeneration of the optic nerve and papillomacular bundle, resulting in rapid loss of central vision.
Leber idiopathic stellate neuroretinitis - a unilateral neuroretinitis with perifoveal exudates in Henle nerve fiber layer producing a macular star and spontaneous regression in a few months. Synonym(s): stellate neuroretinitis
Leber plexus - a small venous plexus in the eye between the venous sinuses of the sclera (of Schlemm) and the spaces of the iridocorneal angle (of Fontana).
Medical Eponyms © Farlex 2012