Pittsburgh Optometrists Talk Rare Eye Diseases

The sense of human sight is typically considered the most important of the five senses. The eyes are the front liners of human and face and body. Though a small organ, the eye is very complex, and operates in multi-functional systems.

It also is one of the most susceptible to disease. The Eyetique eye doctor Pittsburgh PA reports that according to the National Eye Institute, about 4.1 million people aged 40 or older are affected by eye disorders.

Despite the prevalence of eye diseases, there are also eye diseases of the rarest kind, affecting even fewer than 200,000 people in the United States. What are these rare eye disorders?

Anophthalmia and Microphthalmia. These terms are used interchangeably to refer to the eye disorder n which one or both pupils are abnormally small. It can also refer to the absence of one or both eyes.

This rare eye disease develops during pregnancy, caused by genetic and chromosomal abnormalities, and is associated with birth defects. There is no known treatment for severe anophthalmia and microphthalmia, however, less severe forms may benefit from medical or surgical treatments.

Bietti’s Crystalling Dystrophy. This is an inherited eye disease where the affected person receives one nonworking gene from each of the parents. Its symptoms include crystals in the cornea; yellow, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaries and choroid.

This leads in progressive night blindness and visual field constriction. People with an Asian ancestry are the most common susceptibilities to this rare eye disease.

Behcet’s Disease. While the exact cause of this rare disease is unknown, it is believed that it is an autoimmune reaction, causing blood vessels to become inflamed. With the blood vessels damaged, the immune system attacks and harms the body’s own tissues.

Symptoms of Behcet’s disease may vary from one person to another. The four most common symptoms are mouth sores, genital sores, inflammation inside the eye and skin problems. Eye inflammation can cause blurred vision, pain and redness.

Others may experience arthritis, blood clots and inflammation on the central nervous system and digestive organs. Unfortunately, there is no cure for this eye disease. Treatment can focus only on reducing discomfort and preventing serious complications.

Idiopathic Intracranial Hypertension. This condition is due to high pressure within the paces surrounding the brain and spinal cord. Symptoms of this disease include visual loss, including blind spots, poor peripheral vision, double vision and short temporary episodes of blindness.

Permanent vision loss is also experienced by most patients. Ringing in the ears, neck and shoulder pains may also be experienced. Treatment for this disease include regular visual field tests, and sustainable weight loss through healthy eating. Weight loss of about 5 to 10% of body weight may be sufficient to reduce the signs and symptoms.

Retinitis Pigmentosa. This rare, genetic disorder involves a breakdown and loss of cells in the retina. The most common symptoms are difficulty seeing at night and a loss of peripheral vision typically appearing in childhood.

It is usually inherited and results from harmful changes in any one of more than 50 genes, thus, damage is done to photoreceptors. There are several treatments to retinis pigmentosa including services and devices available to help people carry out daily activities despite vision loss.

Targeted therapies are also developed with the use of Vitamin A and artificial vision devices.

The list for rare eye diseases can go on, and in recent years, it is hoped that more advancements in the field of ophthalmology will result to more treatments and therapies of such rare diseases. When in the past you only knew about blindness or low vision, there is really more to these diseases than meets the eye.

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