Student calls for better screening to detect sight-stealing Stickler Syndrome

A student living with a rare tissue disorder – which caused her grandmother to go blind – is calling for GPs to utilise a symptom checker tool to aid early detection.

Amelia Aves from Edinburgh managed to avoid losing her sight because she was diagnosed with Stickler Syndrome at two years old and had preventative surgery.

The genetic connective tissue disorder can cause a number of challenges, including blindness, and it’s estimated roughly one in 7,500 to 10,000 people in the UK are affected.

Amelia, alongside the charity Stickler Syndrome UK, is calling for GPs to utilise a symptom checklist which in just 13 questions could indicate if a child has Stickler Syndrome.