A PRACTICE-BASED SURVEY OF FAMILIAL AGE-RELATED MACULOPATHY

Purpose: We evaluated the efficacy of a practice-based survey of age-r elated maculopathy (ARM) to identify potential families for molecular genetic studies. Demographic and ophthalmic features of the eligible s tudy population were compared with responders and with individuals who reported a positive family history of ARM. Methods: Individuals seen within a three-year period in a comprehensive ophthalmic practice were identified through billing codes. Clinical records were reviewed, cod ed, and merged with questionnaire responses. Patient identifiers were removed prior to analyses, Results. There were no significant differen ces between the respondents and the eligible cohort with respect to ge nder, age, or type of macular degeneration. Comparable percentages of younger and older individuals with ARM reported positive family histor ies. The distribution of atrophic macular degeneration, choroidal neov ascular membranes, and milder forms of the disease among the individua ls reporting positive family histories corresponded to the distributio n of the entire eligible cohort of patients. Conclusion: This recruitm ent strategy for ARM families is cost-effective and confirmed a high p revalence of familial ARM. The respondents are representative of the g eneral ARM population. This approach is applicable for other ophthalmi c genetic conditions.