Leber's congenital amaurosis

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

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.

单词	leber's congenital amaurosis
释义	DictionarySeeamaurosis Leber's congenital amaurosis 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 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. AcronymsSeeLCA
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