Welcome!

If you or a loved one have gyrate atrophy, this site is for you. If you have just been diagnosed or have been managing the disease for a while; whether you are following the diet, not following the diet, or have no idea what the diet is, this site is for you.

 

We seek to create communities of those living with gyrate atrophy and those working to advance research for treatments and cures. Conquering Gyrate Atrophy provides funding to advance research and connect researchers. We strive to bring you the latest resources. 

 

When we are connected, inspired and informed, together we can help accelerate research.

We are very hopeful about finding a cure for gyrate atrophy for the following reasons:

  • The pace of medical research, especially for genetic diseases, is increasing exponentially.

  • There is now an FDA-approved gene therapy for another inherited retinal disease, RPE65-associated retinal dystrophy.

  • Much of the basic research on gyrate atrophy is done. We know the gene, natural history, role of diet, etc.

  • There is a diet that can slow the progression of the disease, giving us the gift of time.

  • Most importantly - there are families and researchers who are committed to finding a cure.

 

On this page in our frequently asked questions section, you will find answers to some of the most common questions as well as information about how to influence and advance research and connect with others living with gryate atrophy. We need your help to keep this data up to date! If you want to add or edit anything below, please contact us at info@GyrateAtrophy.org.

 

Important Note: We are NOT medical professionals and strongly advise you consult with a retinal disease specialist and other medical professionals to understand your specific situation.

Frequently Asked Questions about Gyrate Atrophy

What is gyrate atrophy?


Gyrate atrophy is an inherited and progressive retinal disease. People with gyrate atrophy typically have poor night vision and lesions on their retinas. These lesions progress over time leading to tunnel vision and can eventually cause blindness. For more information, see here (https://omim.org/entry/258870) and here (https://rarediseases.org/gard-rare-disease/6556/gyrate-atrophy-of-choroid-and-retina/) and here (https://eyewiki.aao.org/Gyrate_atrophy#Pathophysiology).




What causes gyrate atrophy?


Gyrate Atrophy is caused by various mutations in the OAT gene, which is found on chromosome 10q26. Inheritance is autosomal recessive. There are more than 50 mutations that have been identified which can cause gyrate atrophy. These mutations affect the enzyme ornithine aminotransferase (OAT). OAT is needed to metabolize the amino acid ornithine. People with gyrate atrophy develop high levels of ornithine because they don’t have the enzyme to metabolize it.




How is gyrate atrophy diagnosed?


There are many retinal diseases that have similar symptoms to gyrate atrophy. Retinal images can show the lesions. Other testing can show levels of electrical activity, peripheral vision, night vision among other things. But the diagnosis of gyrate atrophy is confirmed by a blood test showing high levels (10-20 times) of ornithine and/or a genetic test showing a mutation in the OAT gene.




What is ornithine?


Ornithine is an amino acid found in meat, fish, dairy and eggs. Amino acids are the building blocks of protein. Proteins are digested into amino acids and then absorbed into the body. Arginine is another amino acid that when it is broken down becomes ornithine. People with gyrate atrophy have very high levels of ornithine.




What are the symptoms and progression of gyrate atrophy?


People with gyrate atrophy usually have poor night vision. As the disease progresses the retinal lesions advance causing a loss of peripheral vision and increasing tunnel vision. Cataracts may form late in the disease.




How many people have gyrate atrophy?


There are about 200 people in the world known to have gyrate atrophy with a higher concentration in Finland. But gyrate atrophy is hard to diagnose (requiring advanced retinal imaging, blood test for ornithine levels, and genetic testing), so it is possible that there are more people with undetected gyrate atrophy.




Is there a cure for gyrate atrophy?


There is no cure yet. But there have been significant medical advances recently and Conquering Gyrate Atrophy is supporting pioneering research for a cure.




What are the current treatment approaches?


Diet There is evidence that when people with gyrate atrophy can reduce the amount of arginine they eat (remember arginine turns into ornithine in your body), that can slow the progression of the disease. Some people follow a low protein diet and take supplements which reduces the level of ornithine. This must be done in close consultation with a dietician skilled in metabolic diseases. Some people find the diet very difficult to follow due to the low levels of protein allowed while others are able to maintain it. Vitamin B6 Some people with gyrate atrophy (depending on which mutation of the OAT gene you have) can be helped with high doses of vitamin B6. Please DO NOT try this on your own because B6 can be very toxic and must be monitored closely. Ask your doctor if this might be right for you. Eye drops Some people with gyrate atrophy experience macular edema which is an accumulation of fluid in the central part of the eye. Prescription eye drops can reduce this fluid in some cases.




How can I connect to other families and people with gyrate atrophy?


If you or a loved one has gyrate atrophy, you may want to join a private Facebook group started by families with gyrate atrophy. This group includes people from around the world including adults with gyrate atrophy, parents of young children with gyrate atrophy and others affected by the disease. It is intended to be a safe and supportive space for people dealing with all aspects of the disease including managing the diet, dealing with vision loss, and seeking care providers. If you are interested in joining the group, please send a note to info@gyrateatrophy.org.




How can I influence and advocate for research?


A very important question. Medical science can move at a fast clip and we believe patients and families have a critical role in influencing research. There are many ways to get involved. Patient registry The first step to finding a cure is developing a list of people with the disease. If you or your child has gyrate atrophy, please register at https://www.fightingblindness.org/my-retina-tracker. This is a patient registry that will capture medical information. All the information is anonymous - no one will be able to link your personal information with the information about your disease. Donate Conquering Gyrate Atrophy is an all volunteer organization. Every donation goes entirely to supporting researchers and research on gyrate atrophy. No donation is too small (or too big!). Contact us with your questions and ideas at info@gyrateatrophy.org.




How do I learn about research and clinical trials?


Here is the database for all clinical trials. Currently the only open trial for gyrate atrophy is the disease registry at My Retina Tracker through Foundation Fighting Blindness. Please consider joining the disease registry if you have gyrate atrophy. A few areas that hold promise for gyrate atrophy include gene editing (learn about CRISPR cas 9 here); gene therapy (see here); stem cell therapy (see here). Here is a great video that explains the key differences.





Join Us!

Gyrate atrophy is extremely rare. Help us find everyone affected by it so that we all benefit from and contribute to a cure.  Tell us about your experience as a researcher or a person living with gyrate atrophy! We will send you periodic updates on the latest news on gyrate atrophy and what Conquering Gyrate Atrophy is supporting. We will NEVER share your email address.

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How can you help?

Contact us: info@gyrateatrophy.org

Matching gift support from the Robert Wood Johnson Foundation.

Conquering Gyrate Atrophy is a fiscally sponsored project of Social Good Fund, a 501(c)(3) nonprofit charitable organization (EIN 46-1323531)

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