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Ophthalmological Findings in Mucopolysaccharidoses

Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL 60607, USA
Ophthalmic Clinic, Bürgerhospital, 60318 Frankfurt, Germany
Department of Ophthalmology, University Medical Center, Johannes Gutenberg University, 55131 Mainz, Germany
Author to whom correspondence should be addressed.
J. Clin. Med. 2019, 8(9), 1467;
Received: 12 August 2019 / Revised: 2 September 2019 / Accepted: 12 September 2019 / Published: 14 September 2019
(This article belongs to the Section Ophthalmology)
The mucopolysaccharidoses (MPS) are a heterogenous group of lysosomal storage disorders caused by the accumulation of glycosaminoglycans (GAGs). The accrual of these compounds results in phenotypically varied syndromes that produce multi-organ impairment with widespread systemic effects. The low incidence of MPS (approximately 1/25,000 live births) in conjunction with the high childhood mortality rate had limited the availability of research into certain clinical features, especially ocular manifestations. As the recent successes of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have greatly increased life expectancy in these patients, they have served as a focal point for the transition of research towards improvement of quality of life. Ophthalmological findings in MPS include corneal clouding, glaucoma, optic neuropathies, and retinopathies. While corneal clouding is the most common ocular feature of MPS (especially type I, IVA, and VI), its response to HSCT and ERT is minimal. This review discusses known eye issues in the MPS subtypes, diagnosis of these ocular diseases, current clinical and surgical management, noteworthy research progress, and ultimately presents a direction for future studies. View Full-Text
Keywords: mucopolysaccharidosis; lysosomal storage disorder; ophthalmology; ocular manifestations; corneal clouding mucopolysaccharidosis; lysosomal storage disorder; ophthalmology; ocular manifestations; corneal clouding
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Tomatsu, S.; Pitz, S.; Hampel, U. Ophthalmological Findings in Mucopolysaccharidoses. J. Clin. Med. 2019, 8, 1467.

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