Rare Eye Disorders

A rare eye disorder is one that affects less than 200,000 individuals in the U.S. Many are inherited disorders for which there is currently no cure. They can be serious, as many can lead to blindness. Research is therefore of paramount importance in determining what genes cause these conditions

Retinoblastoma

• Retinoblastoma is a form of cancer that occurs in the retina and is more prevalent in children under age five than in adults. It can be a life-threatening disease if not diagnosed early.

Behcet's Disease

• Behcet's disease is a chronic, autoimmune, recurring disease for which there is no cure. It causes inflammation which can lead to pain, redness, blurred vision and eventually blindness.

Uveal Coloboma

• Uveal coloboma is a genetic condition in which tissue from the eye is missing. Either part of the lens, macula, optic nerve, eyelid or uvea may be missing, which cannot be corrected by surgery.

Anophthalmia and Microphthalmia

• In microphthalmia, either one or both eyes are missing; in anophthalmia, either one or both eyes are abnormally small in size. These disorders are thought to be caused by genetic mutations and chromosome abnormalities.

Bietti's Crystalline Dystrophy (BCD)

• BCD is characterized by the presence of crystals in the cornea and shiny, yellow deposits in the retina, and can lead to night blindness. BCD is inherited in an autosomal recessive manner, and as of 2009 there is no cure for the disease.

Usher Syndrome

• There are three types of Usher syndrome (type 1, type 2 and type 3), which causes degeneration of the retina. This progressively leads to tunnel vision and night blindness.