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What are the causes and risk factors for Stargardt’s Disease?

Genetic Basis:

Stargardt’s is primarily caused by mutations in the ABCA4 gene, following an autosomal recessive inheritance pattern.

Risk Factors:

Individuals with a family history of Stargardt’s or related genetic conditions and those carrying two abnormal copies of the ABCA4 gene are at a higher risk.

What are the signs and symptoms?

Early Signs may include the following: blurred or distorted vision, especially when reading, difficulty adapting to changes in lighting, and changes in colour perception.

Signs of disease progression include: central vision loss, development of blind spots, and challenges with detailed tasks like reading and recognizing faces.

How is Stargardt’s disease diagnosed?

At The Retina Clinic London, all patients attending an initial consultation with one of our Genetic Diseases Specialist, will undergo an array of extensive testing to help diagnose your condition whilst will include, amongst others:

  • Visual Acuity Tests: Assessing clarity and sharpness of vision.
  • Visual Field Tests: Mapping the extent of peripheral vision.
  • Electroretinography (ERG): Recording the electrical responses of photoreceptor cells.
  • High-resolution Ultrawide-field OCT and Macula OCT: Cross-sectional scans of your retina will be taken to identify which changes are happening at an anatomical level in your retinas and to know the extent of any existing conditions.
  • Ultra-widefield multi-wavelength fundus images: pictures of the back of your eye will be taken to have an en-face view of your retinas and to see the extent of any disease and to understand where the affected areas are.
  • Genetic Testing: at The Retina Clinic London, we are in the privileged position of being able to offer a genetic testing service with samples collected in-house before being sent off to the laboratory for processing. This genetic testing is specifically to identify any mutations in those genes associated with the retina and its functioning. We also offer a service to test family members to see if there are also carriers of that gene. More information can be found here.

What treatment options are there available for Stargardt’s Disease?

At the moment there are no approved treatments options for Stargardt’s Disease in adults. However, at The Retina Clinic London, we are also a centre for industry-sponsored clinical trials and, led by Prof. Stanga, we aim to bring patients choice in signing up to the latest trials for their condition where possible. Please see our Clinical Trials page to understand whether or not we are currently recruiting for a trial in Stargardt’s. Similarly, following a consultation with us, with your consent, you will automatically be entered into our database to be contacted for future studies.

Low Vision Aids are an option for managing the symptoms of Stargardt’s and include devices like magnifiers, telescopes, and adaptive technologies to enhance remaining vision. These can be discussed in further detail during your consultation.

Coping with Stargardt’s

When attending a genetics consultation at our clinic, our specialists will discuss with you to variety of emotional and psychological resources to cope with Stargardt’s and the disease progression. These will include:

  • Genetic Counselling: Guidance for families on the inheritance pattern and risk.
  • Support Groups: Connecting with others facing similar challenges.
  • Orientation and Mobility Training: Learning techniques for safe navigation.
  • Psychosocial Support: Addressing the emotional impact of vision loss.