A genetic condition called “aniridia” results from mutations in the PAX6 gene. Approximately 1/50,000-1/1000,000 babies have aniridia. Aniridia results in the complete absence of an iris, and aniridia patients are unable to adjust to light differences.
Because mutations in the PAX6 gene are dominant, aniridia patients half a 50% chance of passing the aniridia condition to their children.
Fortunately for aniridia patients, limbal stem cells can now be cultured in the laboratory and used in clinical settings (see Di Iorio E, et al., Ocul Surf. 2010;8(3):146-53). A Scottish woman with aniridia has just received on of the first limbal stem cell transplants from a cadaver. These cadaver limbal stem cells were cultured and then transplanted onto the surface of her eye.
This woman, Sylvia Paton, who is 50 years old and from the Scottish town of Corstorphine (a west suburb of Edinburgh), is the first person in the United Kingdom to experience this ground-breaking treatment in February of 2012. Her procedure will hopefully reduce her vision problems and ready her for another procedure whereby her lens will be replaced.
For this procedure, limbal stem cells from a dead donor were cultured in the laboratory. The cells were attached to a membrane and then transplanted onto the surface of the left eye. The operation took a total of three hours.
Before her operation, Mrs. Paton could previously only see dark and light through her eye, but this treatment should repair her cornea, and prepare her for another surgery one year later to remove her cataract.
Dr Ashish Agrawal, the National Health Service consultant ophthalmologist who performed the operation, said: “It is now 12 weeks since the transplant and I am delighted to report that Sylvia is recovering well. Her cornea is clear and I hope that it will continue to maintain clarity. However, this is the first and the major step in the complex visual rehabilitation process and she will require further surgical treatment to restore vision.”
We wish Mrs. Paton well and hope that her vision continues to improve.