Ocular manifestations in the mucopolysaccharidoses - a review

被引：27

作者：

Ashworth, Jane L. ^{[1
]}

Kruse, Friedrich E. ^{[2
]}

Bachmann, Bjoern ^{[2
]}

Tormene, Alma P. ^{[3
]}

Suppiej, Agnese ^{[4
]}

Parini, Rossella ^{[5
]}

Guffon, Nathalie ^{[6
]}

机构：

[1] Manchester Royal Eye Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 9WH, Lancs, England

[2] Univ Hosp Erlangen, Dept Opthalmol, Erlangen, Germany

[3] Univ Hosp Padua, Dept Neurosci Ophthalmol, Padua, Italy

[4] Univ Padua, Dept Child Neurol & Clin Neurophysiol, Padua, Italy

[5] Univ Hosp San Gerardo Monza, Dept Paediat, Monza, Italy

[6] Hosp Civils Lyon, Ctr Reference Malad Metab, Lyon, France

来源：

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | 2010年 / 38卷

关键词：

diagnosis; eye disease; glycosaminoglycan; mucopolysaccharidosis; CENTRAL CORNEAL THICKNESS; VIVO MICROSTRUCTURAL ANALYSIS; ENZYME REPLACEMENT THERAPY; INTRAOCULAR-PRESSURE; MUTATIONAL ANALYSIS; GLAUCOMA; GUIDELINES; MANAGEMENT; TONOMETRY; DISEASE;

D O I：

10.1111/j.1442-9071.2010.02364.x

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

P>Ocular manifestations are very common in all types of mucopolysaccharidoses (MPS) and often lead to visual impairment. They arise as a result of the accumulation of glycosaminoglycans deposits in ocular tissues or secondary to increased intracranial pressure. Typical ocular features in MPS include corneal clouding, retinopathy, glaucoma, optic disc swelling, optic atrophy, and ocular motility and refractive error problems. This paper reviews the ocular features in patients with MPS, discusses the diagnosis of these ocular features and the diagnostic problems that may arise in patients (children) with MPS, and highlights the central role ophthalmologists may play in the diagnosis and follow-up of these patients.

引用

页码：12 / 22

页数：11

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