Purpose: The purpose of the study was to evaluate the possible occurrence of loss of heterozygosity (LOH) in the anterior capsule, lens nucleus, iris, and trabeculum samples taken from patients with pseudoexfoliation syndrome (PEX). Loss of heterozygosity in a microsatellite marker locus indicates that the neighboring gene may be inactivated. Previous attempts to find a gene defect that might be responsible for pseudoexfoliation glaucoma have been unsuccessful.
Methods: Specimens of the anterior capsule, the lens nucleus, the iris, the trabeculum, and reference blood samples were collected from 19 PEX patients. Fluorescent multiplex PCR was used to amplify the microsatellite markers located on chromosomes 2, 4, 7, 12, 18, 19, and 21.
Results: LOH was found in 58% of the iris specimens and 50% of the anterior capsule specimens collected from PEX patients. The highest incidence of LOH was observed at the marker D7S820.
Conclusions: It is possible, that genetic factors may be involved in the etiology and pathogenesis of PEX.
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