Congenital glaucoma is a rare condition caused by the incorrect development of the eye’s drainage system during pregnancy. It leads to increased intraocular pressure, and results in damage to the optic nerve.
Alexandra’s mother, Fiona, explained that there were no complications or tell tale signs that something might be wrong before she was born and her pregnancy progressed normally. When she was born, Alexandra didn’t open her eyes but, as she wasn’t breathing either, the main concern at the time was the lack of oxygen. Fiona recalls it like it was yesterday.
As the days passed, specialists could not pinpoint the cause of Alexandra’s eye condition and her parents grew increasingly worried. As soon as she was able to open her eyes a few days later, it became evident that there was something seriously wrong with her sight.
When Fiona was eventually discharged from the hospital, she noticed, within a week of bringing little Alexandra home, that her eyes started to go red and they looked as if they were getting bigger.
Trusting her maternal instincts, Fiona immediately got in touch with a Brisbane ophthalmologist for a second opinion. He diagnosed the condition as congenital glaucoma and instantly put her in touch with paediatric ophthalmologist Professor Glen Gole.
“He told me there was a real concern Ally was going to lose her sight. The pressures in her eyes were extreme at 55 and 35. I was told at the time; if it had been any longer her eyes would have perforated.”
Within five days, Alexandra was undergoing emergency surgery on her eyes at just two weeks old. After more than 60 examinations under anaesthetic in her first year Alexandra’s pressures continued to fluctuate.
Thankfully, today Alexandra’s glaucoma is now stabilised. However her treatment will be ongoing for the rest of her life to ensure any remaining vision is not lost.
She was also diagnosed with Aniridia, which is the absence of the iris and lost the vision in her left eye after a complete retinal detachment.
Alexandra’s remaining vision is in her right eye, which has regrettably developed a cataract and is not eligible for a corneal transplant due to the high risk of failure.
It remains a very complex situation to manage as one condition and treatment option may impact the other. However, Dr Chiang at the Queensland Eye Institute and our medical researchers are working hard to see if they can ensure Alexandra preserves as much vision as possible for her entire life. Despite these complex conditions and setbacks, Alexandra can see colours and shapes as if she is looking through a frosted glass window. It is now up to Dr Chiang and our scientists to ensure this is not lost.
For Fiona it can sometimes become overwhelming as she lives everyday with the possibility that her daughter may go completely blind.
Associate Professor Damien Harkin has been working in the field of stem cell research for 20 years and believes that we are on the right path to developing a therapy which could one day help patients like Alexandra.
Stromal stem cells were originally isolated from bone marrow and have since been found in numerous other tissues including fat tissues. The novelty of our stromal stem cells is that they have been isolated from the periphery of donated human corneas.
Stromal stem cells from other tissues typically display a range of useful immunological properties and so far this seems also true for corneal stromal stem cells.
Low risk patients should also benefit from this technology by retaining their transplants for longer, not just high-risk patients like Alexandra.
Alexandra and her family are very excited by what is underway and are urging everyone they know to get behind Dr Harkin’s research.