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Gyrate Atrophy

It is a genetic disease that affects the eyes, it is inherited from both parents, and is characterized by the degeneration of the choroid and the retina.

Causing complete visual loss between the age of 40 to 70 years of age if untreated.

Patients with gyrate atrophy are born with a genetic alteration that causes a decrease or absence of an enzyme called Ornithine Aminotransferase (OAT), which helps the body get rid of aminoacids arginine/ornithine (present in meat).

When the OAT is not functioning properly or it is absent, the levels of arginine/ornithine accumulate in the blood and damage the eyes.

Causes 

Symptoms

Symptoms appear between the ages of 10 and 30.
Begins with a decrease in the peripheral vision, the side vision, and difficulty to see at night.
 
In addition, myopia, astigmatism, macular edema, and cataracts can be present at an early age.

No treatment has been found to improve the clinical stage of the disease. However, a diet low in foods rich in arginine,  plant-based diet

and supplements that lower the levels of arginine/ornithine in the blood can preserve the vision without further deterioration. 

Treatment 

Prognosis

If it remains untreated the prognosis is bad, a complete vision loss occurs between the age of 40 to 70.

 

An early diagnosis and nutritional guidance are factors that improve the prognosis in a patient with gyrate atrophy.

There are nutritionists and doctors who are experts in inborn errors of metabolism (IEMs), they provide nutritional guidance with the intention to detain the vision loss and preserve it for a much longer time.
 
We will refer you to IEMs specialists and we will provide you the resources according to your need to complete this treatment. 

Next step

Let's join doctors and patients with Gyrate Atrophy, so that in the future, more research will be done to improve the clinical status of the patient, with the hope of having a better quality of vision.

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did you know that a reasearch group from amsterdam is looking for new alternative therapies? visit the link below to learn more about it...

MD. Msc. Elise Ferreira