Glaucoma, Open Angle, Juvenile

Background and History: 

Glaucoma is a complex disease and actually refers to a group of disorders.  Most patients develop what is called glaucoma after the age of 50 but the type described here is often diagnosed in the second or third decades.  Not all patients with glaucoma have an increased pressure in the eye which is recognized as the most common etiologic factor.

Clinical Correlations: 

Patients with this form of glaucoma are generally diagnosed by the age of 18 years, but sometimes not until midlife.  The pressure in the eye tends to be higher and the damage to sight takes place more rapidly than in the type of glaucoma seen after age 50.  It is also more resistant to treatment and often requires surgery for control of the pressure.  Ultimately, if the intraocular pressure is not controlled (less than 15 mm of mercury), the optic nerve is damaged sufficiently that blindness results.  The mechanism causing the elevated pressure is unknown.  There are no abnormalities in the rest of the body.

Genetics: 

This specific type of glaucoma is caused by a mutation which is inherited in an autosomal dominant pattern.  Affected parents can expect that half their children will inherit this mutation and develop glaucoma.

Diagnosis and Prognosis: 

The diagnosis can only be made by an eye doctor.  It is imperative that glaucoma is diagnosed early in the disease for once damage occurs in the optic nerve, it is irreversible.  That means it is important that all children of parents with this type of glaucoma be examined beginning in the first decade of life and tested frequently.

Additional Information