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Review
. 2018 Nov 16;44(Suppl 2):125.
doi: 10.1186/s13052-018-0559-9.

Ocular features in mucopolysaccharidosis: diagnosis and treatment

Alessandra Del Longo  1 , Elena Piozzi  2 , Fiammetta Schweizer  3
Affiliations
Review

Ocular features in mucopolysaccharidosis: diagnosis and treatment

Alessandra Del Longo et al. Ital J Pediatr. .

Abstract

Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in different parts of the eye. Ocular problems are very common in MPS children, and the cornea, sclera, trabecular meshwork, retina, and optic nerve may all be involved. Early diagnosis is very important to preserve the visual function, and the diagnosis requires experience and different evaluations. Follow-up is mandatory to allow a correct pathway to consequent therapy. This article aims to provide a review of ocular alterations and treatment options in MPS. The ophthalmologist is sometimes the first physician who can suspect a metabolic disease and can help to make the correct diagnosis. It is important to stimulate awareness of MPS among ophthalmologists.

Keywords: Corneal clouding; Diagnosis MPS; Eye manifestations; MPS; Mucopolysaccharidosis; Treatment MPS.

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Conflict of interest statement

Ethics approval and consent to participate

Not applicable.

Consent for publication

The parents of the female patient reported in the case report signed an agreement for anonymized publication of the clinical data.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Classification of corneal clouding
Fig. 2
Fig. 2
Corneal ocular coherence tomography (OCT). a Transparent cornea. b Corneal clouding in mucopolysaccharidosis (MPS) type I
Fig. 3
Fig. 3
An 11-year-old MPS VI patient who underwent left corneal transplant. A transparent cornea with no inflammation in the left eye, and corneal clouding in the non-transplanted right eye
See this image and copyright information in PMC

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