Rare Eye Diseases

Research has made great strides in discovering what causes some rare eye diseases. These studies pave the path for quicker discovery, treatment and cures. Sufferers of rare eye diseases often face the threat of blindness, so understanding the cause and then treating it is extremely important.

Pax6

• As published in the Journal of Pathology, scientists have discovered the Pax6 gene that can cause the cornea to go opaque and lead to sight loss. Dr. Martin Collison said the discovery leads to better and less painful treatment in this rare disease.

Pars Planitis

• Pars planitis is an inflammatory disease of the eye that is treatable but can cause blindness. It affects both children and adults. Pars planitis can occur in one or both eyes when fluids build up, clouding vision.

Intraepithelial Dyskeratosis

• Intraepithelial dyskeratosis is a rare eye disease that mostly affects Native Americans in North Carolina. It causes benign plaques on the mucosal linings of the eyes and the mouth. Researchers at Duke University Medical Center found the gene responsible for this disease and said it will help treat this disease and certain cancers.

Stargardt's Disease

• Stargardt's disease is an inherited disease that affects children and leads to juvenile macular degeneration and often legal blindness. Only one in 10,000 children get the disease. Currently there is no cure.

Coats Disease and Leber's Military Aneurysm

• Coat's disease and Leber's military aneurysm typically strike males between the ages of 18 months and 18 years of age. Swelling of the eyes, dilated capillaries, hemorrhaging in the eyes and a detached retina may be present.

Macular Pucker

• Macular pucker occurs when scar tissue builds up on the eye's macula. It can be caused by a detached retina, diabetes or by aging eyes. Loss of vision is common.