Eye experts based at Southampton’s teaching hospitals are effectively treating a rare genetic condition in children – and believe it could halt loss of sight in later life.
Professor Andrew Lotery, consultant ophthalmologist at Southampton General Hospital’s eye unit, and his team are using glaucoma drops to tackle X-linked retinoschisis, a form of macular disease which causes progressive loss of central vision and was previously untreatable.
Exclusively present in males, it is diagnosed in early childhood and gradually impairs vision until adulthood.
The condition leads to splits in the retina and can also cause irreparable damage to vision through burst blood vessels.
The team’s findings, published online by journal Eye, show that although the vision of four patients aged between three and 25 did not improve after being treated with the drops three times a day for up to 28 months, central retinal thickness reduced significantly and splits in the retina narrowed.
“Although it is still early days, these results are exciting because we’ve found improvements in the appearance of patients’ retinas and a decrease in fluid build-up,” said Prof Lotery, professor of ophthalmology at the University of Southampton.
He says the developments could lead to long-term benefit by repairing the shape of the eye and preventing further decline in vision.
“We know there is a risk of further deterioration without treatment and the hope is, by restoring anatomical integrity and preserving the make-up of the retina, we will reduce the permanent damage that leads to loss of sight in later life.”
Last year, Prof Lotery saved the sight of two patients with rare genetic condition Sorsby’s Fundus Dystrophy through a groundbreaking use of the drug Avastin and, in 2008, his lab team identified a major new genetic association with age-related macular degeneration – SERPING1 – which is faulty in up to 25% of sufferers.
His work is supported by charity the Gift of Sight (www.giftofsight.org.uk), which he established in 2004 to raise money for research into the treatment of complex eye disease.
Posted on Tuesday 10 May 2011