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Abstract #6433 Published in IGR 3-2
Pseudoexfoliation syndrome in Icelandic families
Allingham RR; Loftsdottir M; Gottfredsdottir MS; Thorgeirsson E; Jonasson F; Sverisson T; Hodge WG; Damji KF; Stefansson EBritish Journal of Ophthalmology 2001; 85: 702-707
AIM: To examine the distribution and clinical ophthalmic characteristics of pseudoexfoliation (PEX) syndrome and glaucoma in Icelandic families. METHODS: Icelandic families containing three or more members aged 70 or older with at least one member with PEX were identified. All family members over the age of 45 years were invited to participate. Visual acuity, Goldmann 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, including ophthalmic history and a medical history of cardiovascular disease, cerebrovascular disease, systemic hypertension, and diabetes mellitus. Participants were classified according to affected status for PEX, glaucoma, and age-related macular degeneration (ARMD). RESULTS: Six families were identified who met the criteria for entry into the study. Of 94 family members who were invited to participate, 82 were enrolled (87%). Of these, 25 (30%) had PEX syndrome, 51 (62%) were unaffected, and six (7%) were suspects. At least one individual with PEX was identified in the second generation of every family. A parent with PEX was identified in all cases either by examination (4/6) or a review of the ophthalmic records (2/6). In all cases, the mother was the affected parent. The prevalence of glaucoma was significantly greater in the group with PEX (p < 0.0001). Although the presence of ARMD was highly associated with the presence of PEX, the significance was lost after correction for age (p = 0.69). Although the sample size was small, no association between PEX affected status and cardiovascular disease, systemic hypertension, or diabetes mellitus was found. CONCLUSIONS: Multiple Icelandic families with PEX in two generations were identified. In all cases in which determination was possible, transmission to the second generation was through an affected parent. In each case, the affected parent was the mother. PEX was strongly associated with the presence of glaucoma, but was not associated with either ARMD or systemic disease in this study. These data clearly indicate that PEX is a familial condition and, although not conclusive, support the hypothesis that PEX syndrome is genetically inherited.
Dr R.R. Allingham, Duke University Eye Center, Box 3802, DUMC, Durham, NC 27710, USA. allin002@mc.duke.edu
Classification:
9.4.4.1 Exfoliation syndrome (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.4 Glaucomas associated with disorders of the lens)
