Gyrate atrophy
Gyrate Atrophy
Gyrate atrophy (pronounced: jy-rate at-ruh-fee), also known as Gyrate atrophy of the choroid and retina, is a rare genetic disorder that affects the eyes. The term "gyrate atrophy" is derived from the Greek words "gyros" meaning circle and "atrophia" meaning wasting away, referring to the characteristic circular areas of degeneration in the retina.
Definition
Gyrate atrophy is a condition characterized by progressive vision loss, usually diagnosed in early childhood. This condition primarily affects the retina, the specialized light-sensitive tissue that lines the back of the eye, causing areas of atrophy, or tissue degeneration, that increase in both size and number over time.
Causes
Gyrate atrophy is caused by mutations in the OAT gene. This gene provides instructions for making an enzyme called ornithine aminotransferase, which is important for breaking down the amino acid ornithine. Mutations in the OAT gene disrupt the function of this enzyme, leading to an accumulation of ornithine in the body. High levels of ornithine are toxic to the retina, leading to the vision loss and other eye abnormalities seen in gyrate atrophy.
Symptoms
The most common symptoms of gyrate atrophy include night blindness, tunnel vision, and a progressive loss of peripheral vision. Over time, these symptoms can lead to complete blindness. Other symptoms may include myopia (nearsightedness), cataracts, and astigmatism.
Treatment
There is currently no cure for gyrate atrophy. Treatment is focused on managing symptoms and slowing the progression of the disease. This may include the use of corrective lenses or surgery to treat cataracts. Some studies suggest that a diet low in protein and supplemented with vitamin B6 may help to reduce the levels of ornithine in the body, potentially slowing the progression of the disease.
See Also
External links
- Medical encyclopedia article on Gyrate atrophy
- Wikipedia's article - Gyrate atrophy
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