Leber's congenital amaurosis


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia, Wikipedia.
Related to Leber's congenital amaurosis: Leber's hereditary optic neuropathy

amaurosis

 [am″aw-ro´sis]
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.

Leber's congenital amaurosis

[lā′bərz]
Etymology: Theodor von Leber, German ophthalmologist, 1840-1917; L, congenitus, born with; Gk, amauroein, to darken
a rare kind of blindness or severely impaired vision caused by a defect transmitted as an autosomal-recessive trait and occurring at birth or shortly thereafter. The eyes appear normal externally, but pupillary constriction to light is sluggish or absent, and electroretinographic responses are decreased or absent. Pendular nystagmus, photophobia, cataract, and keratoconus may be present; the ophthalmic disorder may be associated with mental retardation and epilepsy. One type of Leber's amaurosis results in complete blindness. In a second kind the pathology does not progress, and the patient has very mild vision loss.

Leber's congenital amaurosis

A hereditary, bilateral blindness present at birth or in early childhood. It is caused by mutations in the gene encoding the retinal guanylate cyclase (GUCY2D) on chromosome 17. Initially, the ocular fundus appears normal, although the ERG is markedly reduced. A salt and pepper fundus and optic atrophy appear later. The condition is often accompanied by nystagmus and photophobia.
References in periodicals archive ?
b) Retinal disorders = Leber's congenital amaurosis, rod cone dystrophy, and so forth.
Leber's congenital amaurosis is progressive, but quite heterogeneous with 15 known genes.
20-22 * Seventh Biannual Leber's Congenital Amaurosis (LCA) Family Conference.
He reported on recent gene therapy work conducted at Moorfields in relation to Leber's congenital amaurosis which came up with results that are potentially very exciting.
The Company currently expects that data on a phase I/II heart failure trial sponsored by its partner, Celladon Corporation, to be released at mid-2010 and anticipates its collaborator's trial in the degenerative eye disease, Leber's Congenital Amaurosis, to be fully enrolled by year end.
The study used gene therapy to treat participants with Leber's congenital amaurosis, a severe form of retinitis pigmentosa that causes blindness or substantial vision loss at birth.
His research led the way in establishing the gene defect in vitamin A metabolic cycle that ultimately directed researchers toward recent successful gene therapy clinical trials for Leber's congenital amaurosis, a severe, early onset form of retinitis pigmentosa.
The investment funds will be used by AGTC to complete the next phase in human clinical trials for its gene therapy treatments for Alpha-1 Antitrypsin Deficiency (Alpha-1) a form of emphysema and Leber's Congenital Amaurosis (LCA) a form of childhood blindness, and preclinical development of gene therapy treatment for Achromatopsia, a form of daytime blindness.