Stargardt Disease
An inherited retinal disease that causes progressive vision loss, primarily affecting the macula – the central part of the retina responsible for sharp, detailed vision.
Understanding Stargardt Disease
Often developing during childhood, adolescence, or early adulthood, Stargardt Disease is one of the most common forms of inherited macular degeneration. It can significantly affect activities that rely on central vision, such as reading, recognising faces, driving, and seeing fine detail.
Although there is currently no approved cure for Stargardt Disease, advances in genetic testing, retinal imaging, clinical research, and emerging therapies are creating new opportunities to better understand and manage the condition.
Retina International works with people affected by Stargardt Disease, patient organisations, researchers, clinicians, and partners worldwide to advance research, strengthen patient involvement, and support progress towards improved outcomes.
What is Stargardt Disease?
Stargardt Disease is an inherited retinal disease that causes progressive damage to the macula, the central part of the retina responsible for detailed vision, reading, recognising faces, and seeing colour.
It is most commonly caused by changes in the ABCA4 gene. These changes can lead to the build-up of a substance called lipofuscin in the retina, which damages retinal cells over time and can cause progressive loss of central vision.
Stargardt Disease is also known as Stargardt macular dystrophy, juvenile macular degeneration, or ABCA4-associated retinal disease.
The condition varies from person to person. Some people experience gradual changes over many years, while others develop more significant vision loss at a younger age.
Mainly affects
Central vision
Progression
Varies widely between individuals
Mainly caused by
ABCA4 gene changes
How Stargardt Disease can affect vision
Blurred or reduced central vision
People may notice difficulty seeing fine details or focusing on objects directly in front of them.
Difficulty reading
Reduced macular function can make reading text, recognising numbers, or viewing screens more challenging.
Difficulty recognising faces
Loss of central vision may affect the ability to identify people or facial details.
Blind spots in central vision
Some individuals develop areas of missing vision in the centre of their visual field.
Colour vision changes
Some people experience reduced colour perception.
Increased sensitivity to bright light
Light sensitivity and difficulty adjusting between bright and dark environments are commonly reported.
Unlike some retinal conditions, peripheral vision is often preserved, particularly in earlier stages.
Identifying Stargardt Disease
Eye examination
An ophthalmologist examines the retina for characteristic changes associated with Stargardt Disease.
Retinal imaging
Imaging techniques may include:
- Fundus photography
- Optical coherence tomography (OCT)
- Fundus autofluorescence (FAF)
These technologies help identify changes in the macula and monitor disease progression.
Visual function testing
Tests may assess:
- Visual acuity
- Visual fields
- Colour vision
Electroretinography (ERG)
ERG may be used to evaluate retinal function.
Genetic testing
Genetic testing can confirm whether changes in ABCA4 or another associated gene are responsible.
A genetic diagnosis can support:
- Accurate diagnosis
- Family counselling
- Clinical trial participation
- Understanding future treatment options
Current approaches to managing Stargardt Disease
Low vision support
Specialist services can provide:
- Magnification devices
- Assistive technology
- Accessibility tools
- Strategies for adapting daily activities
Vision rehabilitation
Rehabilitation services can support:
- Mobility
- Education
- Employment
- Independent living
Emerging therapies
Research is exploring treatments that aim to:
- Address the underlying genetic cause
- Protect retinal cells
- Slow disease progression
- Restore visual function
Adapting to changes in central vision
A diagnosis of Stargardt Disease can affect education, employment, independence, and daily activities, particularly because many people are diagnosed during childhood or early adulthood.
People living with Stargardt Disease may benefit from:
- Accessible learning and workplace environments
- Assistive technology
- Low vision rehabilitation
- Peer support
- Patient organisations
- Research participation
Many people with Stargardt Disease continue to pursue education, careers, relationships, and personal goals with appropriate support and adaptations.
The experiences of people living with Stargardt Disease are essential in shaping research priorities and healthcare approaches.
Advancing the future of Stargardt Disease treatment
Gene therapy
Researchers are exploring ways to replace or correct faulty genetic information associated with ABCA4-related disease.
Learn About Gene TherapyGene editing
New technologies are being investigated to repair disease-causing genetic changes.
Learn About Gene EditingCell-based therapies
Researchers are exploring whether damaged retinal cells can be replaced or supported to preserve vision.
Learn About Cell-based therapiesNatural history studies and registries
Long-term research helps scientists understand disease progression and design meaningful clinical trials.
Learn About Natural History StudiesClinical trials
Clinical studies are investigating potential treatments for people with Stargardt Disease.
Learn About Clinical TrialsInformation and community support
Take the Next Step
Stargardt Disease continues to drive innovation in inherited retinal disease research. Through collaboration between patients, researchers, clinicians, and organisations worldwide, progress is being made towards earlier diagnosis, better support, and new treatment possibilities.
