amaurosis


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amaurosis

[‚a‚mȯ′rō·səs]
(medicine)
Total or partial blindness.
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La evaluacion del fondo de ojo durante el episodio de amaurosis fugaz fue documentada, mostrando los cambios que se suceden a nivel de la retina y el nervio optico (figura 3).
Amaurosis fugax, however, occurs on the same side as the carotid stenosis.
Leber's Congenital Amaurosis (LCA) is the most common cause of blindness due to genetic disease in children and consists of a group of diseases of which LCA10 is the most frequent and one of the more severe forms.
Fishman et al., "Mutations in the CRB1 gene cause Leber congenital amaurosis," Archives of Ophthalmology, vol.
Clinical characteristics of the patient group CAS severity 80% (70-90) Stroke 9 (60%) HT 11 (73%) Amaurosis fugax 2 (13%) DM 5 (33%) Cataract 2 (13%) Smoking 13 (86%) Venous filling 12 (80%) Alcohol use 2 (13%) Stage 1 HRP 5 (33%) TIA 5 (33%) Stage 2 HRP 4 (26%) CAS: Carotid artery stenosis, HT: Hypertension, DM: Diabetes mellitus, TIA: Transient ischemic attack, HRP: Hypertensive retinopathy Table 3.
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
This report provides comprehensive information on the therapeutic development for Leber Congenital Amaurosis (LCA), complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases.
The product is used to treat nyctalopia, or night blindness, in patients with Leber's congenital amaurosis due to mutations in the RPE65 gene.
Genzyme, a Sanofi company, has established a research collaboration with the University of Florida and the University of Pennsylvania to develop a gene therapy for the treatment of Leber congenital amaurosis type 1 (LCA-1), rare genetic disease that causes childhood blindness.
Caracteristicas clinicas, demograficas e imagenologicas preoperatorias Caracteristicas de la serie n pacientes % < 16 anos 3 8,1% Edad 16-40 anos 18 48,6% 41-60 anos 16 43,2% Femenino 23 62,1% Sexo Masculino 14 37,8% Cefalea 19 51,3% Hemianopsia Heteronima 25 67,5% Bitemporal Amaurosis Unilateral 4 10,8% Amaurosis Bilateral 1 2,7% Clinica Agudeza visual disminuida 4 10,8% uni o bilateral Pan-hipopituitarismo 23 62,2% Hipopituitarismo selectivo 8 21,6% Psudo-prolactinoma 2 5,4% Trastornos cognitivo- 15 40,5% conductuales Hidrocefalia 4 10,8% Pre-Infundibulares 18 48,6% Imagenologicas Infundibulares 10 27,0% Retro-Infundibulares 9 24,3% Tabla 2.
Children with structural disorders, such as anophthalmia, microphthalmia, and coloboma, made up 7.9% (n = 468) of the sample; retinal disorders, such as Leber's congenital amaurosis and rodcone dystrophies, represented 5.5% (n = 327); and albinism accounted for 4.5% (n = 264) of the sample.
Washington, July 30 ( ANI ): Scientists have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness.