At age 10 Nick Tuftnell knew he was going to end up blind after being diagnosed with the genetic condition choroideremia.

The condition leads to the death of light-absorbing cells in the eye. The cells die because of a mutated gene in certain ocular cells, which eventually leads to blindness.

I knew my granddad had it. I remember seeing him in the latter stages of life and he was completely blind, said Tuftnell, now 38.

After his condition was confirmed, Tuftnell said he had nothing to do but wait for his eyesight to slowly dim and darken over time.

All the doctors could say is Your son is going to go blind, see you later, said Tufnell of receiving his diagnosis.

As he grew older his eyesight has diminished to the point where he can no longer drive due to poor peripheral vision and has severe difficulty moving around at night.

I cant walk around at night, its that bad, said Tuftnell. I dont have any peripheral visioneventually itll get like Im looking through toilet rolls.

Tuftnell said his doctors estimated that he had around ten years of useful vision left.

However, two years ago Tuftnell took part in a groundbreaking study where gene therapy was used to treat his deteriorating condition.

The results of the study were published last week in the Lancet Medical Journal.

Originally posted here:
Man Saved From Blindness By Gene Therapy

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