Ophthalmological Findings in Mucopolysaccharidoses
نویسندگان
چکیده
منابع مشابه
Ophthalmological findings in myotonic dystrophy.
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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The mucopolysaccharidoses (MPS) represent a group of inheritable, clinically heterogeneous lysosomal storage disorders, in which progressive accumulation of glycosaminoglycans (GAGs) can affect organs and tissues all over the body. The current paper discusses the skeletal X-ray and neuroimaging findings in MPS patients, and the imaging techniques that can be used for diagnosing and monitoring a...
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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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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 ...
متن کاملImaging findings of mucopolysaccharidoses: a pictorial review
INTRODUCTION Mucopolysaccharidosis (MPS) represent a heterogeneous group of inheritable lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive damage of affected tissues. The typical symptoms include organomegaly, dysostosis multiplex, mental retardation and developmental delay. Definitive diagnosis is usually possible through enzymatic...
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ژورنال
عنوان ژورنال: Journal of Clinical Medicine
سال: 2019
ISSN: 2077-0383
DOI: 10.3390/jcm8091467