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amaurosis

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amaurosis
‖ amaurosis Med. (æmɔːˈrəʊsɪs) [mod.L., a. Gr. ἀµαύρωσις, n. of action f. ἀµαυρό-ειν to darken, f. ἀµαυρ-ός dark, dim.] Partial or total loss of sight arising from disease of the optic nerve, usually without external change in the eye.1657 Phys. Dict., Amaurosis, gutta serena, a disease in the eyes,... Oxford English Dictionary
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Amaurosis
In a small minority of those who experience amaurosis, stroke or permanent vision loss results. Quinidine toxicity can lead to cinchonism and also to quinine amaurosis. wikipedia.org
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Amaurosis congenita, cone-rod type, with congenital hypertrichosis
Amaurosis congenita, cone-rod type, with congenital hypertrichosis is a very rare genetic disorder which is characterized by ocular anomalies and trichomegaly Signs and symptoms This is a list of the symptoms that this condition causes: Cone-rod type amaurosis congenita Severe corneal dystrophy Vision impairment wikipedia.org
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amafrose
† ˈamafrose Obs. [a. Fr. amafrose (Cotgr. 1611) for amaurose or amavrose, ad. mod.L. amaurōsis, a. Gr. ἀµαύρωσις.] = amaurosis.1598 Sylvester Du Bartas ii. i. (1641) 98/2 Th' Amafrose and Cloudy Cataract, That..clean puts out the eye. 1731 Bailey, Amafrose, a disease in the sinews of the sight. Oxford English Dictionary
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Leber congenital amaurosis
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. Abby Lockhart diagnoses a young foster girl with Leber congenital amaurosis. The girl to this point hid her condition from her foster families. wikipedia.org
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-osis
-osis suffix, representing Gr. -ωσις, originating in the addition of the general suffix -σις, forming verbal nouns of action or condition, to derivative vbs. in -ό-ω from adj. and n. stems or combining forms in ο-: e.g. ἀµαύρωσις darkening, obscuration of sight, amaurosis, f. ἀµαυρό-ω to darken, f. ... Oxford English Dictionary
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Voretigene neparvovec
Voretigene neparvovec, sold under the brand name Luxturna, is a gene therapy medication for the treatment of Leber congenital amaurosis. It was granted orphan drug designation for Leber congenital amaurosis and retinitis pigmentosa. wikipedia.org
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Retinol isomerase
A lack of RPE65 function results in congenital blindness in children (specifically Leber congenital amaurosis). wikipedia.org
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Leber Congenital Amaurosis - EyeWiki
Leber congenital amaurosis (LCA) is a family of congenital retinal dystrophies that results in severe vision loss at an early age. Patients usually present with nystagmus, sluggish or near-absent pupillary responses, severely decreased visual acuity, photophobia, and high hyperopia. It is the most severe retinal dystrophy causing blindness by ...
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Kim Umback
She was diagnosed with Leber's congenital amaurosis. wikipedia.org
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LCA5
Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by the LCA5 gene. Clinical significance Mutations in the LCA5 gene are associated with Leber's congenital amaurosis. References wikipedia.org
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CRB1
Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis. wikipedia.org
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GUCY2D
Clinical significance Mutations in this gene result in Leber's congenital amaurosis and cone-rod dystrophy-6 diseases. References wikipedia.org
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Leber
- German politician and resistance fighter Theodor Leber - German ophthalmologist who first described the diseases now known as Leber's congenital amaurosis wikipedia.org
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The Llura Liggett Gund Award
His team’s approach was then used in human clinical trials where children and young adults virtually blind from Leber congenital amaurosis (LCA) have had Stone’s lab has been a leader in discovering and characterizing genes that cause retinal degenerations such as retinitis pigmentosa, Leber congenital amaurosis wikipedia.org
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