FAMILIAL AGGREGATION OF AGE-RELATED MACULOPATHY

PURPOSE: To determine whether age related maculopathy aggregates in fa milies by evaluating whether its prevalence is higher among relatives of case subjects with age related maculopathy compared with relatives of control subjects without age-related maculopathy. METHODS: Individu als with (n = 119) and without (n = 72) age related maculopathy were i dentified. First degree relatives of case and control probands (parent s, siblings, or offspring) 40 years of age or older were asked whether they had ever been diagnosed with macular degeneration. Medical recor ds of 177 case and 146 control relatives confirmed the presence or abs ence of age-related maculopathy. RESULTS: The prevalence of medical re cord confirmed age related maculopathy was significantly higher among first degree relatives of case probands (23.7%) compared with first de gree relatives of control probands (11.6%) with an age and sex adjuste d odds ratio (OR), 2.4; 95% confidence interval (CI), 1.2 to 4.7; P = .013. Relatives of 78 case probands with exudative disease had a signi ficantly higher prevalence of maculopathy (26.9%) compared with relati ves of the 72 unaffected control probands (11.6%) (adjusted OR, 3.1; 9 5% CI, 1.5 to 6.7; P = .003), whereas the prevalence of age related ma culopathy among relatives of 41 probands with dry maculopathy (19.2%) was slightly but not significantly higher (adjusted OR, 1.5; 95% CI, 0 .6 to 3.1; P = .36). CONCLUSIONS: The prevalence of age-related maculo pathy among first degree relatives of subjects with age related maculo pathy, particularly with exudative disease, is greater than among firs t degree relatives of subjects without this disease. Results suggest t hat macular degeneration has a familial component and that genetic or shared environmental factors, or both, contribute to its development.