A practice-based survey of familial age-related maculopathy

We evaluated the efficacy of a practice-based survey of age-related maculopathy (ARM) to identify potential families for molecular genetic studies. Demographic and ophthalmic features of the eligible study population were compared with responders and with individuals who reported a positive family history of ARM.

Individuals seen within a three-year period in a comprehensive ophthalmic practice were identified through billing codes. Clinical records were reviewed, coded, and merged with questionnaire responses. Patient identifiers were removed prior to analyses.

There were no significant differences between the respondents and the eligible cohort with respect to gender, age, or type of macular degeneration. Comparable percentages of younger and older individuals with ARM reported positive family histories. The distribution of atrophic macular degeneration, choroidal neovascular membranes, and milder forms of the disease among the individuals reporting positive family histories corresponded to the distribution of the entire eligible cohort of patients.

This recruitment strategy for ARM families is cost-effective and confirmed a high prevalence of familial ARM. The respondents are representative of the general ARM population. This approach is applicable for other ophthalmic genetic conditions.