Rare Eye Diseases | Rare Disease Day Feb 28th

Most people have heard of certain eye diseases, such as cataracts and glaucoma. But there are also several other less common diseases that can affect your eyes and vision.

February 28th is Rare Disease Day. It is also a good time to learn more about rare eye diseases. Keep reading below to learn about four rare eye diseases, their symptoms, and their treatment. 
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Idiopathic intracranial hypertension 

Idiopathic intracranial hypertension occurs when increased pressure around the brain leads to vision changes. It develops when the cerebrospinal fluid builds up in the skull. The high pressure in the skull puts pressure on the optic nerve and can lead to visual changes. 

Symptoms: Symptoms of idiopathic intracranial hypertension include:

• Double vision
• Blind spots
• Temporary blindness
• Side vision loss
• Headaches

Cause: Idiopathic indicates the cause is not known. But obesity appears to be a risk factor for developing the condition.

Treatment: Treatment may include weight loss for those that are obese. According to the National Eye Institute, losing even 10 percent of body weight may decrease symptoms. Additional treatment may include medication to decrease cerebrospinal fluid production. Surgery may also help and includes placing a shunt to drain extra fluid. 
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Behcet’s Disease 

Behcet’s disease involves a condition that damages the blood vessels in different parts of the body. In some cases, the vessels in the eyes can become damaged.

Symptoms: When Behcet’s disease affects the eyes, symptoms may include:

• Redness
• Eye pain
• Blurry vision

Causes: Behcet’s disease occurs due to inflammation in the blood vessels from an abnormal response by the immune system. Doctors are not sure why it may occur. A combination of genetics and environmental issues may trigger the condition.

Treatment: Treatment is aimed at decreasing inflammation. It usually includes steroids and medications to decrease the immune system response. 
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Retinoblastoma 

Retinoblastoma is an uncommon type of cancer that affects the retina. According to the American Cancer Society, retinoblastoma is most common in children under two.

Symptoms: Retinoblastoma symptoms may develop in one or both eyes. Usually, symptoms include:

• Eye pain
• Swelling
• Watery eyes
• Poor vision
• One eye that drifts in a different direction

Causes: Researchers think that in many cases, retinoblastoma develops due to a genetic mutation. The gene RB1 has been identified as a cause of retinoblastoma. But only about 1 out of 3 children with retinoblastoma have the gene mutation. The cause of the other cases is not clear.

Treatment: The treatment for retinoblastoma often involves surgery to remove the tumor. Treatment may also include radiation therapy, chemotherapy, and laser therapy. The exact treatment plan depends on whether cancer has spread beyond the outside of the eye. 
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Retinitis pigmentosa 

Retinitis pigmentosa involves a group of uncommon eye diseases that affects the retina. The diseases cause the retina to break down gradually over time. This deterioration of the retina eventually leads to vision loss. 

Symptoms: The symptoms of retinitis pigmentosa often start in childhood and may include:

• Loss of side vision
• Problems with color vision
• Loss of central vision

Causes: The cause of retinitis pigmentosa is not clear, but it appears to be a genetic condition that people are born with. Symptoms may start at any age, but they typically begin in childhood. Unfortunately, most people with retinitis pigmentosa lose their sight. 

Treatment: According to the American Academy of Ophthalmology, currently, there is no cure for retinitis pigmentosa. Using low vision aids may help with adjusting to the condition.

If you have any questions about rare eye diseases or any other eye condition, we are happy to help. Also, if you would like to ask whether an appointment with one of our eye doctors would be appropriate at this time, call our office at 508-746-8600.