Stargardt disease affects many children I see in my clinic and ABCA4-related retinal degenerations are also common in adults. The finding that a safe and simple dietary modification may help them is extremely promising. Dr Charbel Issa is to be congratulated for undertaking this incredibly detailed analysis that has provided further scientific validation of inhibiting vitamin A dimerization in this disease. We look forward to the next step of clinical trials.
- Professor Robert MacLaren, project supervisor
People usually associate vitamin A as being good for the eyes, but the study found that in patients with Stargardt disease, vitamin A transforms into toxic compounds, which cause chronic inflammation, premature ageing of the retina and vision loss.
Stargardt disease affects around 1 in 10,000 people and begins in childhood, leading to progressive loss of central vision. The condition is linked to defects on a gene known as ABCA4. In Stargardt disease, the light-sensitive tissue in the back of the eye - the retina - ages prematurely and granules called ‘lipofuscin’ accumulate.
To date, there is no treatment for Stargardt disease, but a team led by Oxford University DPhil student Peter Charbel Issa (now a Professor at the University of Bonn), used genetically engineered mice to look at one possible cause of the premature aging of the retina in Stargardt disease.