Pseudoexfoliation
(PEX) syndrome is the commonest identifiable cause of open angle glaucoma
worldwide. Despite its prevalence and potential for ophthalmic morbidity,
surprisingly little is known about the etiology and pathogenesis of PEX.
This talk reviews
the literature and presents evidence regarding genetic
and non-genetic
arguments for the etiology of pseudoexfoliation. Lines of
evidence that
support a genetic basis for PEX include transmission in two
generation
families, twin studies, an increased risk of PEX in relatives of
affected patients,
and HLA studies.
A number of
non-genetic factors have also been evaluated for their possible implication in
the pathogenesis of PEX. These
include ultraviolet light, autoimmunity, slow virus infection and trauma.
It is possible that
a combination of genetic and non-genetic factors may be
involved in the
etiology and pathogenesis of PEX i.e. it may be a
multifactorial
disorder. Further studies with larger numbers of patients are
needed to delineate
more clearly the contribution of genetic and non-genetic factors to the
development of pseudoexfoliation syndrome and
pseudoexfoliation glaucoma.