Quantitating Corneal Density in Fabry Disease

Research Opportunity
Number of Honour Places Available
Medicine and Radiology
Royal Melbourne Hospital
Primary Supervisor Email Number Webpage
A/Prof Kathy Nicholls kathy.nicholls@mh.org.au 0393427143 Personal web page

Project Details

This is a clinical research project and involves direct patient contact.

Fabry disease is a genetic disease o glycolipid storage. It is due to a mutation in the GLA gene on the X chromosome, resulting in a deficiency of the gene product, an enzyme (alphagalactosidase A) which normally breaks down the glycolipid Gb3. Patients with Fabry disease commonly have deposits of substrate in the cornea. Although these do not interfere with vision, they may provide the pathway to diagnosis. It is not clear whether or not specific treatment of Fabry disease can clear the corneal deposits, and whether or not the amount deposited bears any relationship to disease severity. Less well known eye manifestations of the disease include conjunctival and retinal vessel tortuosity and posterior cataract.

Royal Melbourne Hospital Nephrology unit provides clinical care and therapy coordination for more than 100 Victorian patients with Fabry disease. All patients are routinely offered specialist ophthalmology assessment, including conjunctival, corneal and retinal examinations, and assessment of visual acuity. RMH Ophthalmology service has a new Pentacam camera that can measure objectively the internal reflectance of the cornea using a non-invasive technique.

This project will document and evaluate corneal densitometry measurements in Fabry patients, both treated and untreated with specific Fabry therapies, the most common of which is Enzyme Replacement Therapy.

The aims of the project are:

  1. To measure corneal densitometry in patients with Fabry disease, both treated and untreated
  2. To correlate corneal densitometry with other phenotypic features
  3. To correlate corneal densitometry with circulating levels of lyso-Gb3, the putative biomarker of Fabry disease
  4. To monitor the effect of specific Fabry therapy therapy on corneal densitometry

School Research Themes


Research Opportunities

Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.


Medicine and Radiology

Research Node

Royal Melbourne Hospital

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