Aniridia is a genetic condition where those that have the genetic mutation are born without all or part of the iris, the part of the eye that controls how much light enters the eye through the pupil. Aniridia is caused by mutations in a gene that codes for a protein that controls eye development.
Any mutation in this gene that produces a defective protein will cause aniridia, which means this is a dominant condition. Any person inheriting this mutation from their parent will also have aniridia. Anyone with aniridia has a 50/50 chance of passing this condition onto their children.
The lack of an iris means an inability to control the light that enters the eye. This causes damage to the cornea, the thin, transparent tissue that covers the pupil. For a patient to get a new cornea, it would have to be donated from a recently deceased organ donor.
A woman in Scotland, who suffers from aniridia, has received an adult stem cell transplant to try and repair her left cornea. Sylvia Paton is the first person in the UK to undergo such a treatment. From the Edinburgh Evening News:
A WOMAN who received the UK’s first corneal stem cell transplant today told how her son’s struggle with a hereditary eye condition inspired her to try the treatment.
Sylvia Paton, 50, from Corstorphine, was the first person in the country to undergo the ground-breaking treatment when she had surgery in February.
It is hoped that the transplant will reduce the vision problems she suffers as a result of the eye condition aniridia, in which sufferers are born with no iris in their eye. As a result they are not able to adjust the size of their pupil to protect the eye from bright light and the cornea becomes damaged….
Stem cells from a dead donor were grown in a laboratory and attached to a membrane which was then transplanted onto her left cornea during a three-hour operation.
Mrs Paton could previously only make out dark and light through the eye, but it is hoped that the treatment will help repair her cornea, which in turn will clear the way for surgeons to carry out a cataract operation in a year’s time….
Dr Ashish Agrawal, the consultant ophthalmologist from NHS Lothian 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.”
I hope Ms. Paton’s transplant does improve her eyesight. This would give hope not just to her son and others who have aniridia, but to all who suffer with damaged corneas.