Stargardt's Day - Background

What is Stargardt's Disease?

Stargardt’s disease (also known as Stargardt macular degeneration, fundus flavimaculatus and juvenile macular dystrophy) is an condition that affects the part of the eye at the back called the retina.

Stargardt’s disease is caused by a defect (or spelling mistake) in the gene ABCA4 (a biological instruction), which leads to the degeneration of the photoreceptors (the light-sensitive cells required for vision) in a part of the retina called the macula. This results in a loss of sharp, central vision. There are some other rarer forms of Stargardt’s disease or Stargardt disease-like conditions which have other genetic causes.

Symptoms often appear in childhood and can include wavy vision, blind spots, blurriness, impaired colour vision and difficulty seeing in dim light. Currently, there are no treatments. However, research is ongoing to assess the potential for a range of new interventions for this condition.

Why did we have a Stargardt's Day?

The idea for Stargardt’s Day came about when the parent of a recently diagnosed child contacted the NIHR Moorfields BRC looking for more information about organisations who offered support to families affected by Stargardt’s disease. Looking back at many of the enquiries we receive for this condition we found others looking for similar information. Some also wanted to know more about the condition and current research into treatments.

Co-creation

In the planning of this day we partnered with patients and family members. They helped us to create an agenda that provided an opportunity for patients and families to meet one another and to get answers to their most important questions. This day wouldn’t have been possible without the panel’s help and support.