Dr Danial Roshandel in his research laboratory
Dr Danial Roshandel, from the Lions Eye Institute, is conducting first of its kind research in Western Australia, investigating ways to manage issues caused by congenital aniridia on the surface of the eye.
What is congenital aniridia?
Congenital aniridia is a rare genetic eye disorder that impacts all parts of the eye, causing numerous serious complications including cataract, glaucoma, problems in the cornea and retina, and eventually severe vision impairment. While management of cataract and glaucoma is possible, other complications of the condition are demanding for the patient and very challenging to treat.
Current treatments limited
The cornea is the clear front part of the eye, covered by surface cells that maintain its health and transparency. Corneal surface cells, originating from stem cells at the cornea’s edge, are regularly replaced. If these stem cells are absent from birth due to congenital aniridia, or damaged due to factors like burns or prolonged contact lens use, the cornea can become irregular and cloudy. This can cause progressive vision loss and significant pain like a severe eye abrasion.
Current treatment involves transplanting stem cells from a donor’s eye. However, the transplanted stem cells can be rejected by the recipient’s body. Therefore, suppression of the recipient’s immune system is required, which can lead to adverse side effects. The risk of rejection and failure is high, usually occurring after a few years and resulting in the need for more treatment or surgery.
An alternative being explored by Dr Roshandel and his team is using a patient’s own skin cells to generate corneal epithelial stem cells, eliminating the risk of rejection and the need for immune suppression.
Two-pronged approach
Dr Roshandel said his team are using a two-pronged approach to develop new treatments to address the corneal issues caused by congenital aniridia.
The first approach entails converting the patient’s skin cells into corneal epithelial stem cells and subsequently transplanting them into the patient’s eyes to address the eye surface problems. This technique helps the eye surface to regenerate, without the need of suppressing the patient’s immune system. The second approach involves correcting the mutation that causes the disease using cutting-edge gene editing techniques.
Dr Roshandel said, “In our lab at the Lions Eye Institute, we’ve successfully generated corneal epithelial stem cells from normal human skin. However more work is needed to improve efficiency and ensure the process will be safely translated to clinical practice.”
