Gyrate Atrophy of the Choroid and Retina (GACR)
A rare inherited retinal disease that causes progressive degeneration of the retina and choroid, the vascular layer of the eye that supplies nutrients to the retina.
Understanding Gyrate Atrophy of the Choroid and Retina (GACR)
Gyrate Atrophy of the Choroid and Retina (GACR) is a rare inherited retinal disease characterised by progressive degeneration of the retina and choroid, the vascular layer that supplies nutrients to the retina.
The condition is caused by changes in the OAT gene, which affect the body’s ability to break down the amino acid ornithine, resulting in elevated levels in the blood and other tissues. This can lead to areas of retinal degeneration that appear as sharply defined, scalloped or ‘gyrate’ patterns around the edges of the retina.
Symptoms typically begin in childhood or adolescence and may include difficulty seeing in low light (night blindness) and progressive loss of peripheral (side) vision. As the areas of degeneration expand, central vision may also become affected. The onset and progression can vary between individuals.
Although there is currently no cure, early diagnosis, regular monitoring and dietary management to help control ornithine levels may help preserve vision. Advances in genetic and metabolic research are also creating opportunities for improved care and potential treatments.
Retina International works with people affected by Gyrate Atrophy, patient organisations, researchers, clinicians and partners worldwide to advance understanding, support research and improve outcomes for people living with inherited retinal diseases.
1 in 50,000
Estimated prevalence in Finland
1
Identified gene
50+
OAT gene variants identified
How Gyrate Atrophy can affect vision
Night blindness
Difficulty seeing in low light is often one of the earliest signs of the condition.
Progressive loss of peripheral vision
Degeneration usually begins in the outer retina, causing gradual narrowing of the visual field.
Reduced visual field
As areas of retinal degeneration expand, people may experience tunnel vision.
Reduced central vision
In later stages, the macula may become affected, leading to difficulty with detailed tasks.v
Light sensitivity
Some individuals experience increased sensitivity to bright light.
Cataracts
Some people with Gyrate Atrophy develop cataracts at an earlier age.
Identifying Gyrate Atrophy
Eye examination
An ophthalmologist examines the retina and may identify characteristic areas of degeneration.
Visual field testing
Measures peripheral vision loss and tracks progression.
Retinal imaging
Technologies such as optical coherence tomography (OCT) and fundus photography allow clinicians to examine retinal structure.
Genetic testing
Testing for changes in the OAT gene can confirm diagnosis.
A confirmed diagnosis can help:
- Guide treatment approaches
- Support family counselling
- Identify clinical research opportunities
Supporting vision and managing disease progression
Dietary management
Because Gyrate Atrophy is associated with elevated ornithine levels, some individuals may benefit from dietary approaches designed to reduce ornithine levels.
Management may involve:
- Reducing dietary intake of certain amino acids
- Working with metabolic specialists and dietitians
- Monitoring nutritional health
Treatment decisions should always be made with healthcare professionals.
Vitamin supplementation
Some individuals may be advised to consider vitamin B6 (pyridoxine) supplementation if they have a responsive form of the condition.
Low vision support
Support may include:
- Visual aids
- Assistive technology
- Mobility training
- Vision rehabilitation
Emerging therapies
Gene therapy is the main treatment being developed. It aims to replace the faulty OAT gene, lower ornithine levels and help protect the retina.
Early animal research is promising, particularly when gene therapy targets both the liver and the eye, but this has not yet been proven in people.
The GYROS study is currently following patients to help researchers prepare future gene-therapy trials.
Adapting to progressive vision changes
Living with Gyrate Atrophy often involves adapting to gradual changes in vision over time.
People affected may experience challenges with:
- Mobility
- Education
- Employment
- Independent living
- Daily activities
Support may include:
- Early access to low vision services
- Assistive technology
- Educational accommodations
- Workplace adaptations
- Patient communities
Because Gyrate Atrophy often begins early in life, access to appropriate support can help individuals develop strategies for independence and participation.
Families may also benefit from genetic counselling to understand inheritance patterns and future risks.
The experiences of people living with Gyrate Atrophy are important in shaping research priorities and improving patient-centred care.
Advancing the future of Gyrate Atrophy treatment
Gene therapy
Because Gyrate Atrophy is caused by changes in a single gene, researchers are exploring approaches that may address the underlying genetic cause.
Retinal cell therapies
Researchers are investigating whether replacement or regeneration of retinal cells could restore visual function.
Retinal prostheses and vision restoration technologies
Retinal prostheses and vision restoration technologies use innovative devices and technologies to stimulate remaining retinal pathways and support vision.
Natural history studies and registries
Long-term studies help define how Gyrate Atrophy progresses and support the development of clinical trials.
Clinical trials
Research continues into potential therapies aimed at slowing retinal degeneration and preserving vision.
Information and community support
Take the Next Step
Gyrate Atrophy demonstrates the importance of understanding the relationship between genetics, metabolism, and retinal health.
Through collaboration between people affected by the condition, researchers, clinicians, and organisations worldwide, progress continues towards earlier diagnosis, improved management, and future treatments for inherited retinal diseases.
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