Investigation of protein defects in retinal degenerations

Chief Investigator: Professor Robert MacLaren

This is a five year study assessing patients diagnosed with Retinal Degenerations. To be eligible to participate patients need to have a known genetic mutation, which has been confirmed to cause their eye condition

This study is using a specific type of cell (fibroblast), which is obtained by a small skin biopsy. Samples are being investigated on the cellular level to understand how eye disease develops (expression and function) in people with retinal degeneration.

A small skin biopsy from the inner aspect of the arm will be taken, after numbing the area first with a small local anaesthetic procedure. Depending on the clinical need, a small absorbable suture may be used to close the skin. This should dissolve within 1-2 weeks. The sample will be kept for up to 10 year period according to the University of Oxford’s protocols.

A blood test will also be done to confirm genetic changes.

There will be little direct benefit for the patient, although the study will help to treat, prevent and cure blindness in others.