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Review
. 2023 Nov 28;13(4):443-450.
doi: 10.4103/tjo.TJO-D-23-00137. eCollection 2023 Oct-Dec.

Mucopolysaccharidosis

Kusumitha Bhakthaganesh  1 , Manumuraleekrishna  1 , Murugesan Vanathi  1 , Shifa Ahmed  1 , Noopur Gupta  1 , Radhika Tandon  1
Affiliations
Review

Mucopolysaccharidosis

Kusumitha Bhakthaganesh et al. Taiwan J Ophthalmol. .

Abstract

Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs. There are seven types of MPS and 13 subtypes that are associated with multiple organ systems, such as the respiratory, liver, spleen, central nervous systems, arteries, skeletons, eyes, joints, ears, skin, and/or teeth. The various types share some common ocular features that differ in terms of the severity of the affection. Visual loss in MPS patients is varied and can be due to corneal clouding, glaucoma, retinopathy, and optic neuropathy. The primary focus of this review is on changes in the cornea and anterior segment in MPS patients, including clinical and novel investigative modalities, current surgical management, effects of systemic therapy like hematopoietic stem cell transplants (HSCT)and enzyme replacement therapy (ERT), as well as significant research developments.

Keywords: Anterior segment optical coherence tomography; corneal opacification measurement score; enzyme replacement therapy; glycosaminoglycans; hematopoietic stem cell transplant; in vivo confocal microscopy; mucopolysaccharidoses; ultrasound biomicroscopy.

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Conflict of interest statement

The authors declare that there are no conflicts of interests of this paper.

Figures

Figure 1
Figure 1
Coarse facial features (a) with operated penetrating keratoplasty in the right eye (b) and left eye - corneal clouding seen in a case of Hurler’s syndrome (c)
Figure 2
Figure 2
Causes for glaucoma in mucopolysaccharidoses. GAG: Glycosaminoglycan, TM: Trabecular meshwork
Figure 3
Figure 3
Anterior segment optical coherence tomography imaging of the cornea in a case of mucopolysaccharidoses showing dense corneal opacification
See this image and copyright information in PMC

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