Rare Glaucoma Research – Iridocorneal Endothelial Syndrome

Rare Glaucoma - ICE Syndrome

Project dates: 01/10/2021 - Ongoing

The cornea is a curved clear section of eye tissue that sits in front of the iris and pupil. It focusses incoming light onto the lens, which then provides fine focus adjustments, enabling objects to appear clear whether viewing close or at distance. Blindness can be caused by many conditions, affecting the cornea, lens, retina, optic nerve, or any other component of the visual sense pathway.

Upper: A clear healthy cornea, intact iris, and singular pupil.
Close up photo of an iris markedly altered by progressive iris atrophy - multiple additional holes have been torn in the iris, appearing as extra pupils.
Lower: Iridocorneal Endothelial Syndrome. This image shows essential iris atrophy (or progressive essential iris atrophy), one of the 3 variants of Iridocorneal Endothelial syndrome. This variant has more iris changes compared to the other 2 variants. Contributed by Gustavo Espinoza, MD. (source: Iridocorneal Endothelial Syndrome, StatPearls Publishing LLC, CC BY-NC-ND 4.0 http://creativecommons.org/licenses/by-nc-nd/4.0/)

Glaucoma is a major contributor to global blindness. Rare forms of glaucoma have been studied to a lesser degree, hence are less-well understood – presenting major opportunities for advancements in treatment and management strategies. Our research focusses on rare forms of glaucoma, in particular, the rare condition of iridocorneal endothelial (ICE) syndrome. ICE syndrome has three sub-categories largely defined by the patient presentation at time of diagnosis. Broadly, ICE syndrome involves uncharacteristic migration and contraction of the cells lining the internal surface of the cornea (endothelium). The contraction can distort the pupil shape and tear additional openings in the iris. Migration of endothelial cells clogs the drainage channels which usually manage the balance of pressure within the eye. This can cause elevated intraocular pressure and glaucoma-like symptoms, including damage to the optic nerve at the back of the eye. The diagram below highlights these changes:

Diagram showing two eyes in cross-section. One is heathy, the other has arrows showing the increased pressure inside the eyeball due to corneal cells growing and moving into the iridocorneal angle.
This diagram shows a healthy eye (left) and an eye with iridocorneal endothelial syndrome (right): the ICE syndrome eye (right) has white arrows indicating the increased pressure inside the eyeball due to corneal cells growing and moving into the iridocorneal angle (arrows shown in blue). The iridocorneal angle contains drainage channels that maintain optimal pressure inside the eye. When these become blocked by migrating corneal endothelial cells (thin blue line) the drainage is reduced or ceases, causing increased pressure within the eye.

Being a rare disease, there is very little known about the prevalence and natural history of the condition within the Australian health context. To address this, we have established a research consortium of passionate medical researchers, ophthalmic surgeons, clinician-scientists, optometrists, and patient advocates to begin work on a clinical surveillance study, run histological investigations, and explore molecular techniques to better understand the cause/s of the condition in the hopes of finding more effective treatment options.

To provide a boarder scope in our research and deliver benefits to more patients, we are working to expand our surveillance study to include all rare forms of glaucoma: neovascular glaucoma, juvenile onset/congenital glaucoma, pseudoexfoliation syndrome, and other forms of secondary glaucoma, like ICE syndrome. If you would like to know more about our work in this area, please get in touch via the contact form below:

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    Funding / Grants

    • QUT Centre for Vision and Eye Research (2024)

    Chief Investigators