Exfoliation Glaucoma
Patient Information
Characteristics
Background and History
Glaucoma is unfortunately a common condition. Numerous types have been identified including this one which is unusual because ophthalmologists have some understanding of the mechanism underlying it. It is also one of the more common types and the risks are well understood. It was first described in 1917 by John Gustaf Lindberg while he was a resident in opthalmology.
Clinical Correlations
This is an age-related type of glaucoma in which abnormal dandruff-like flakes appear in the fluid of the eye, which then deposit on various structures such as the cornea. It also deposits on the openings which drain fluid from the eye and often blocks its exit. This causes a rise in the pressure inside the eye which seems to play a role in destruction of the nerve connections to the brain that enable seeing. Lowering this pressure is essential to preserving vision but it requires vigilance in this condition.
Exfoliation usually appears in midlife and often increases with age. The condition can be unilateral and often appears asymmetrically in the two eyes. Cataracts seem to occur more frequently in this disorder.
Genetics
Inheritance
There is a strong genetic component to this condition as it is more commonly seen in Europeans, and especially in Scandinavians. It is unknown among Eskimos but is found frequently in certain black African populations. Such ethnic distribution is good evidence for the role of genes in this disorder but clear-cut family patterns are difficult to find. While such evidence favors autosomal dominant inheritance, no single responsible gene has been identified.
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
The diagnosis is made by ophthalmologists. Anyone who has evidence of exfoliation must be followed carefully, regardless of the presence or absence of glaucoma at the time of diagnosis. When glaucoma is diagnosed it must be treated promptly and vigorously. Lifelong monitoring is required. Once established, the disease does not go away.
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