Question 1

What is gyrate atrophy?

Accepted Answer

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).

Question 2

What causes gyrate atrophy?

Accepted Answer

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.

Question 3

How is gyrate atrophy diagnosed?

Accepted Answer

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.

Question 4

What is ornithine?

Accepted Answer

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.

Question 5

What are the symptoms and progression of gyrate atrophy?

Accepted Answer

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.

Question 6

How many people have gyrate atrophy?

Accepted Answer

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.

Question 7

Is there a cure for gyrate atrophy?

Accepted Answer

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

Question 8

What are the current treatment approaches?

Accepted Answer

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.

Question 9

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

Accepted Answer

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.

Question 10

How can I influence and advocate for research?

Accepted Answer

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.

Question 11

How do I learn about research and clinical trials?

Accepted Answer

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.

Question 12

What are some organizations supporting rare diseases and retinal disorders?

Accepted Answer

Foundation Fighting Blindness, focused on retinal diseases Global Genes National Association for Rare Disorders (NORD) Rare Disease Clinical Research Network, National Institutes of Health Genetic Alliance

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