Epidemiology of Exfoliation in an Isolated Greek Village

Abstract

Purpose: : To evaluate the prevalence of exfoliation (XFS) in Taxiarchis, an isolated village in northern Greece, and the pattern of occurrence of lysyl oxidase-like protein 1 (LOXL1) polymorphisms with XFS in this isolated village population

Methods: : Eight hundred fifty-nine villagers from Taxiarchis were enrolled in a clinical and genetic study. Participants underwent a detailed ophthalmological exam. The LOXL1 SNPs, rs1048661 and rs3825942, were sequenced bidirectionally.

Results: : We examined 541 of the villagers for exfoliation. Twenty-two individuals (all greater than 50 years old) had XFS, of which 13 had exfoliation glaucoma (XFG). The resulting prevalence of XFS in individuals over 50 years old is 9.7% and in those over 70 years old is 19.1%. The 22 XFS subjects were in twelve pedigrees, which may share common ancestral founders. Seven of the families consist of trios (two parents and one affected offspring), whereas five pedigrees are multigenerational. Notable among these are one pedigree in which all four affected individuals are homozygous for both LOXL1 risk alleles and another pedigree in which all four XFS individuals carry the Thr377Met MYOC mutation. There is no evidence for maternal inheritance of XFS in these kindred.

Conclusions: : The prevalence of XFS is much lower in this village compared to published reports of other regions in Greece. The prevalence is comparable, however, to published results from other isolated populations in the world.

Keywords: genetics • clinical (human) or epidemiologic studies: prevalence/incidence • aging