Sialidosis type I: ophthalmological findings
نویسندگان
چکیده
منابع مشابه
Sialidosis type I: ophthalmological findings.
Sialidosis is a lysosomal storage disease caused by deficit of neuraminidase. It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. Symptoms began at age 26 with reduced visual acuity, bilateral cherry-red spots and later myoclonus. A brother, now deceased, had ...
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tial for posterior dislocation of the donor corneal disc in aphakic eyes must be taken into consideration. Longer-lasting, higher-buoyancy gases (such as SF6) could be used as alternatives to air, but the possible toxic effect to endothelial cells should be elucidated. Correspondence: Dr Yoo, Cornea and External Diseases, Bascom Palmer Eye Institute, 900 NW 17th St, Miami, FL 33136 (syoo@med .m...
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We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magneti...
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Dear Editor, We read with great interest the article by Ikeda et al. concerning ophthalmological findings in myotonic dystrophy (MD)1. We would like to thank the authors, because they cited a study we published in 2009, where we tried to understand the reasons for low intraocular pressure (IOP) in these patients. Our first goal was to check if this was a real hypotony or if it was related to an...
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BACKGROUND The purpose of this prospective, noncomparative consecutive study was to examine active and retired amateur boxers in order to evaluate the nature and incidence of ocular pathologic conditions related to the boxing practice. RESULTS A total of 35 boxers were included in this study. The mean age of the boxers was 28.09±7.57 years (range 18-52 years). Sixteen (45.7%) boxers had >5 ye...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2014
ISSN: 1757-790X
DOI: 10.1136/bcr-2014-205871