Use of new imaging in detecting and monitoring ocular manifestations of the mucopolysaccharidoses

Acta Ophthalmol. 2016 Dec;94(8):e676-e682. doi: 10.1111/aos.13098. Epub 2016 Jun 8.


The aim of this review is to summate the eye involvement in patients with mucopolysaccharidoses (MPS) using current ocular imaging techniques, their advantages and disadvantages and how they may aid diagnosis, management and monitoring. We critically reviewed the current literature surrounding MPS and recent imaging technology as well as histology. Primary searches of PubMed and Web of Science were performed. We reviewed all papers on the topic published and summarized the findings of each medical device as well as the advantages and disadvantages of using these for the MPS patient. We discussed the potential of each of these devices to monitor potential ocular pathology in the MPS cohorts in the order of MPS subtype. We reviewed imaging techniques involving use of the Iris Camera, Pentacam, Optical Coherence Tomography (OCT) as well as ultrasound and Heidelberg OCT. The need for reliable objective quantification of eye findings in MPS has led to utilization of new imaging technologies described here, and future use will enhance our understanding of the unique eye features in MPS. In particular, we note that the Pentacam and iris camera are able to provide objective measurements of corneal haze and monitor ocular response to treatment.

Keywords: enzyme replacement therapy; hematopoietic stem cell transplantation; iris camera; mucopolysaccharidoses; ophthalmic imaging; optical coherence tomography; pentacam.

Publication types

  • Review

MeSH terms

  • Corneal Diseases / diagnostic imaging*
  • Humans
  • Microscopy, Confocal
  • Mucopolysaccharidoses / diagnostic imaging*
  • Photography / instrumentation
  • Tomography, Optical Coherence