Pseudoexfoliation syndrome in Icelandic families

Aim-To examine the distribution and clinical ophthalmic characteristics of pseudoexfoliation syndrome (pseudoexfoliation) and glaucoma in Icelandic fa milies. Methods-Icelandic families containing three or more members aged 70 or olde r with at least one member with pseudoexfoliation were indentified. All fam ily members over age 45 were invited to participate. Visual acuity, Goldman n applanation tonometry, gonioscopy, slit lamp examination before and after dilatation, and dilated fundus examination were performed on all available family members. Pertinent data were obtained from medical records, includi ng ophthalmic history and a medical history of cardiovascular disease, cere brovascular disease, systemic hypertension, and diabetes mellitus. Particip ants were classified according to affected status for pseudoexfoliation, gl aucoma, and age related macular degeneration. Results-Six families were identified who met the criteria for entry into th e study. Of 94 family members who were invited to participate 82 were enrol led (87%). Of these 25 (30%) had pseudoexfoliation syndrome, 51 (62%) were unaffected, and six (7%) were suspects. At least one individual with pseudo exfoliation was identified in the second generation of every family. A pare nt with pseudoexfoliation was identified in all cases either by examination (4/6) or a review of ophthalmic records (2/6). In all cases the mother was the affected parent. The prevalence of glaucoma was significantly greater in the group with pseudoexfoliation (p <0.0001). Although the presence of a ge related macular degeneration (ARMD) was highly associated with the prese nce of pseudoexfoliation, the significance was lost after correction for ag e (p = 0.69). Although the sample size was small, no association between ps eudoexfoliation affected status and cardiovascular disease, cerebrovascular disease, systemic hypertension, or diabetes mellitus was found. Conclusions-Multiple Icelandic families with pseudoexfoliation in two gener ations were identified. In all cases where determination was possible, tran smission to the second generation was through an affected parent. In each c ase the affected parent was the mother. Pseudoexfoliation was strongly asso ciated with the presence of glaucoma, but was not associated with either AR MD or systemic disease in this study. These data clearly indicate that pseu doexfoliation is a familial condition and although not conclusive, supports the hypothesis that pseudoexfoliation syndrome is genetically inherited.