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

Abstract

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.

The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler)

“…Subjective assessment of corneal clouding may be subject to inter-and intraobserver variability, and VA may fluctuate in patients with MPS due to variable lighting conditions, patients' concentration and co-operation. The Iris camera has been previously validated to provide an objective measure of corneal clouding in patients with MPS (Aslam et al 2012;Javed et al 2016), and the Pentacam Densitometry Program has also been shown to provide an objective measure of corneal clouding in patients with MPS with moderate-to-severe corneal clouding (Elflein et al 2013). However, the Pentacam digital imaging system requires patient co-operation, and many patients may not be able to tolerate the assessment due to age or intellectual and physical disabilities.…”

Ocular features in mucopolysaccharidosis: diagnosis and treatment

“…Recently, the Iris Camera (similar to the security tool used in airports) is used to allow the grading of corneal clouding; this examination shows high repeatability [ 18 , 19 ].…”

Variability in the ocular phenotype in mucopolysaccharidosis

“…The utility of ocular imaging modalities in MPS has previously been reviewed by our group12 and were thought to be useful in objectively assessing the ocular phenotype in MPS.…”