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 less than 3 percent of individuals with glaucoma have the congenital 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.
In this, type D, the lenses of the eye may be abnormally shaped or even dislocated. The diameter of the cornea is often increased but it does not have the typical appearance (cloudy, glassy appearance with scars) characteristic of congenital glaucoma. Glaucoma when it occurs is secondary to abnormal mobility of the spherical lenses and is not a congenital and primary condition. Some patients have thinning of the bones and a high arched palate. FOR THESE REASONS THIS DISORDER IS NO LONGER CONSIDERED A PRIMARY CONGENITAL GLAUCOMA AND HAS BEEN RECLASSIFIED AS "MEGALOCORNEA, ECTOPIA LENTIS, AND SPHEROPHAKIA".
This is usually considered an autosomal recessive disorder. It can result from the inheritance of two mutations, one from each normal parent and therefore often appears in a horizontal pattern.
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.