Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.
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منابع مشابه
Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.
Seven members of four families had nystagmus noted by 4 months of age, poor vision, photophobia, and a markedly reduced or absent electroretinogram. Six of these patients had a life threatening episode of cardiac failure in infancy. There were also two neonatal deaths, and one of the affected children died at 2 years and one at 19 years. The five surviving children are well, remain with nystagm...
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Retinitis pigmentosa (RP) is the generic name for a group of hereditary disorders characterized by progressive loss of photoreceptors and RPE function. The classical triad of retinitis pigmentosa is arteriolar attenuation, retinal bone spicule pigmentation and waxy disc pallor. Lebers congenital amaurosis (LCA) is the hereditary form of retinitis pigmentosa. It presents with blindness either at...
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متن کاملLeber's congenital amaurosis.
rig. renpheralfundus cS. We have had occasion to see a similar case, first in 1974 when the patient, a black female with no apparent vision but otherwise well, was 6 months old. At that time dilated fundus examination under anaesthesia (EUA) was normal. Repeat EUA in 1977 at age 4 years revealed bilateral peripheral fundus lesions essentially identical to those described by Chew et al. (Figs. 1...
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To cite: Ambiya V, Kuppermann BD, Narayanan R. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208374 DESCRIPTION Retinal astrocytic hamartomas are rare benign tumours that can arise from any location in the retina or from the optic nerve head. Multifocal and bilateral lesions are likely to be associated with tuberous sclerosis and neurofibromatosis 2 but are ...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1989
ISSN: 0007-1161
DOI: 10.1136/bjo.73.4.250