It has been known for a long time that too much pressure in the eye can cause blindness. This is most commonly diagnosed in adults but about 3 percent of individuals with glaucoma have this early onset variety.
Early onset glaucoma, sometimes called congenital or juvenile, can occur as an isolated condition or as part of a large number of syndromes. The pressure in the eye may be too high even before birth or may become apparent at any time in the first two decades. Typically, the elevated pressure is found neonatally or the first year of life when it is associated with general irritability, light sensitivity, excessive tearing, and evidence of decreased vision. The eye may appear abnormally large and the cornea (normally a clear windshield of the eye) appears cloudy, or ‘glassy’. The elevated pressure causes damage to the optic nerve leading to loss of vision.
This is considered to be an autosomal recessive disorder based on the family pattern. It can result from the inheritance of two mutations, one from each normal parent and therefore often appears in a horizontal pattern among members of sibships. The risk of congenital glaucoma among such siblings is 25% for each individual. However, no specific mutated gene has been identified.
Only an ophthalmologist can make this diagnosis. However, a pediatrician or family doctor should also be a part of the team to rule out associated abnormalities elsewhere in the body. It is essential that the elevated pressure be controlled for blindness can result if it remains too high. The usual drugs used in adults for glaucoma may not be effective and surgery is often necessary. All patients with congenital glaucoma require lifelong monitoring and pressure control.