Assessment of eye disease in MPS

Doctors are always looking for ways that they can improve the lives and health of their patients, including research studies. Below are details of a study currently looking for volunteers.  Please use the contact details at the end of the page for more information.


The mucopolysaccharidoses (MPS) are a group of hereditary disorders which arise from defects in enzymes which break down glycosaminoglycans (GAGs) which occur in a wide variety of tissues, resulting in multiple systemic complications. Sight loss occurs in MPS due to corneal clouding, retinal degeneration, glaucoma and damage to the optic nerve. Corneal opacification occurs in infancy in several MPS subtypes and in the untreated disease the opacification is thought to be progressive, contributing to significant visual impairment in many patients.

Improvements in quality of life and lifespan as a result of early treatment (with enzyme replacement therapy and haematopoetic stem cell transplantation) have meant that management of ocular complications and preservation of vision has increased importance.

A repeatable, reliable technique for quantification of corneal clouding will allow objective demonstration of the effect of treatments such as ERT in stabilisation or improvement of corneal clouding, and to establish the natural history of corneal opacification in MPS.

What is the aim of the study?

We have previously developed the Iris camera (Irisguard Corp, McLean, VA 22102, USA) technology to give an objective measure of corneal clouding (Irisguard model IGAD100 ®) (Aslam et al 2009).

We demonstrated that use of the iris camera for corneal opacification assessment in MPS is feasible, practical and has shown evidence for validity and reliability (Aslam et al 2012) (research funded in part by Biomarin Europe Ltd). The densitometry program for the Pentacam® Scheimpflug camera has also been shown to be able to provide measurements of corneal clouding in MPS (Elflein et al 2013).

Optos wideangle digital imaging and high resolution OCT allows documentation of retinal disease. This research proposal will allow us to use to these techniques to quantify corneal clouding and retinal disease over time in MPS patients and to assess the effects of treatment with ERT and HSCT.

Further information on this study is listed on the Clinical website.

How can I get involved?

Please contact Iain McLean at the Royal Manchester Eye Hospital for more information.