Glaucoma, Congenital Primary E
Patient Information
Characteristics
Background and History
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.
Clinical Correlations
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 detected as elevated at birth but sometimes not until several months of age. Sometimes only one eye is affected. It may be 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.
Genetics
Inheritance
This is an autosomal dominant disorder in which congenital glaucoma can be transmitted directly from parent to each child with a 50% probability.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
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.
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