Rishi’s story
“I was so scared that my son would face a future navigating the challenging and harsh world with a vision impairment,” Tina, mother to Rishi who has congenital aniridia.
Rishi was less than a day old when doctors delivered the shocking news to Tina that her perfect little son Rishi had been born with cataracts in both eyes. Little did she know the news was about to get worse.
During Rishi’s cataract surgery, doctors discovered he in fact had congenital aniridia, a rare condition caused by genetic defects. Congenital aniridia is associated with a host of eye conditions including cataract, glaucoma, and cornea, retina, and optic nerve problems.
That was 19 years ago. Rishi today is a sport-loving young man, with a passion for blind cricket and a love of life, despite its difficulties. But Tina’s memories of her fears in his infancy remain etched in her mind.
Rishi (right) with his mum Tina
“The news was the beginning of a long and challenging journey for us all and it changed my life forever,” says Tina.
“Even now Rishi is a young adult, my whole day is still spent planning for tomorrow, next week and beyond, because every sphere of Rishi’s life is affected by this eye condition.”
Rishi’s congenital aniridia has caused complete blindness in his right eye and glaucoma in the other. Unfortunately, there is no treatment for Rishi’s right eye and the vision in his left eye will deteriorate if left untreated. He has corneal degradation in both eyes, a painful condition relieved only by hourly drops during the day and ointment at night.
While treatments for many of congenital aniridia’s associated conditions are already available, when it comes to the eye surface (cornea), current treatment options are limited. Treatments often involve transplantation of the stem cells from a donor’s eye which can be rejected by the recipient’s body and hence requires supressing the patient’s immune system which puts them at risk of adverse drug reactions and infection.
But now, groundbreaking research from the Lions Eye Institute could change the way we treat corneal disease and shift outcomes for people like Rishi into the future.
Dr Danial Roshandel
“In a healthy eye, stem cells continually regenerate to keep the eye surface healthy and the vision clear, but in people with congenital aniridia the cells don’t function as they should,” says Research Lead, Dr Danial Roshandel. “In an exciting study, we’re using patients’ own skin cells to grow corneal stem cells which can be transplanted into the eye, eliminating the risk of rejection and the need for immune suppression that comes with current treatments.”
It’s not only people with congenital aniridia who may benefit from this research long term. People who’ve experienced chemical burns of the eye surface, prolonged contact lens use or immune disorders of the eye surface may also have stem cell damage which could be treated by the transplant.
The team is also investigating ways to identify and correct the gene defect associated with congenital aniridia, as they culture patient stem cells in the lab. This is a development which could have even further-reaching impacts on other associated eye conditions.
Rishi and his mum Tina were thrilled to hear the news that this research was taking place.
“So far, I’ve given a blood sample and a skin biopsy which they’re using in the lab,” says Rishi. “Studies like this could help me and others prevent further vision loss to improve our quality of life, so I hope people get behind this appeal.”
Please help by donating today. It’s critical that we keep our corneal research progressing, so treatments become available without unnecessary delays. By supporting us today, you can be part of advances that save sight and change lives.