Retinoschisin

Retinoschisin is a condition that affects the retina, the light-sensitive tissue at the back of the eye. It is characterized by the splitting of the retinal layers, which can lead to a decrease in visual acuity and other vision problems.

Causes

Retinoschisin is caused by mutations in the RS1 gene. This gene provides instructions for making a protein called retinoschisin, which is needed for the normal organization and maintenance of the retina. Mutations in the RS1 gene disrupt the normal function of retinoschisin, leading to the splitting of the retinal layers.

Symptoms

The symptoms of retinoschisin can vary, but they often include nystagmus (involuntary eye movement), strabismus (crossed or misaligned eyes), and hyperopia (farsightedness). Some people with retinoschisin may also have macular degeneration, a condition that causes the center of the retina to deteriorate.

Diagnosis

Retinoschisin is diagnosed through a comprehensive eye examination. This may include a visual acuity test, a dilated eye exam, and optical coherence tomography (OCT), a non-invasive imaging test that uses light waves to take cross-section pictures of the retina.

Treatment

There is currently no cure for retinoschisin, but treatment can help manage the symptoms. This may include glasses or contact lenses to correct vision problems, and regular eye exams to monitor the condition. In some cases, surgery may be needed to repair retinal detachments or other serious complications.

File:Retina layers.png

Layers of the retina. In retinoschisin, these layers split apart.

See also

• Retinal diseases
• Genetic disorders
• Eye examination

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