Gyrate atrophy, choroid Save
ICD-10 code: H31.23
Disease category: H31.2: Hereditary choroidal dystrophy
Gyrate Atrophy, Choroid: Understanding the Basics
Gyrate atrophy, choroid is a rare genetic disorder that affects the eyes. It is caused by a deficiency in an enzyme called ornithine aminotransferase (OAT), which is responsible for breaking down the amino acid ornithine. When there is a deficiency in OAT, ornithine accumulates in the body and damages the retina and choroid, which are important parts of the eye.
Symptoms of gyrate atrophy, choroid typically begin in childhood or adolescence and include night blindness, visual field loss, and decreased central vision. As the disease progresses, individuals may also develop cataracts, glaucoma, and retinal detachment.
Diagnosis of gyrate atrophy, choroid is typically done through genetic testing, although an eye exam may also reveal characteristic signs of the disease such as a pale optic nerve and thinning of the retina.
Causes of Gyrate Atrophy, Choroid
Gyrate atrophy, choroid is caused by a mutation in the OAT gene, which is located on chromosome 10. This mutation leads to a deficiency in the OAT enzyme, which is necessary for the breakdown of ornithine. As a result, ornithine accumulates in the body and damages the retina and choroid.
The OAT gene is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the disease. Individuals who inherit only one copy of the mutated gene are called carriers and do not typically show symptoms of the disease.
Treatment of Gyrate Atrophy, Choroid
Currently, there is no cure for gyrate atrophy, choroid. Treatment is focused on managing symptoms and preventing complications. This may include the use of glasses or contact lenses to improve vision, as well as surgery to treat cataracts or retinal detachment.
In some cases, dietary restrictions may be recommended in order to reduce the amount of ornithine in the body. This may involve limiting the intake of certain foods that are high in protein, such as meat, fish, and dairy products. Supplementation with vitamin B6 may also be recommended, as this has been shown to help reduce the levels of ornithine in the body.
- Gyrate atrophy, choroid is a rare genetic disorder that affects the eyes.
- It is caused by a deficiency in the enzyme ornithine aminotransferase (OAT), which leads to the accumulation of ornithine in the body and damage to the retina and choroid.
- Symptoms typically begin in
Treatment of Gyrate atrophy, choroid:
Gyrate Atrophy, Choroid: Treatment Options
Gyrate Atrophy, Choroid is a rare genetic disorder that causes vision loss and other eye-related problems. The condition is caused by a deficiency in the enzyme ornithine aminotransferase (OAT) that leads to a buildup of a toxic substance called ornithine.
Currently, there is no cure for Gyrate Atrophy, Choroid. However, there are ...
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