Rare Eye Diseases

A rare disease is generally considered to be one that affects fewer than 200,000 people in the United States. Some eye diseases are rare. Several are linked to genetic mutations. Genetic testing and counseling can help guide care for people and families who are at increased risk for an inherited eye disease.

Examples of rare eye diseases include:

• Behçet’s disease of the eye
• Bietti’s crystalline dystrophy
• Coloboma
• Idiopathic intracranial hypertension
• Microphthalmia (missing or small eyes)
• Retinitis pigmentosa
• Retinoblastoma
• Stargardt disease
• Usher syndrome