PHENOTYPIC HETEROGENEITY IN FAMILIES WITH AGE-RELATED MACULAR DEGENERATION

PURPOSE: To evaluate the ophthalmic phenotype in families with three o r more individuals who have age-related maculopathy. METHODS: Eight fa milies were identified at academic centers in Massachusetts and North Carolina. Macular findings were graded based on a modification of the grading system used in the Age Related Eye Disease Study (AREDS). RESU LTS: All families had at least three members with stage 3 (extensive d rusen change) or higher maculopathy in at least one eye, and six famil ies had at least two members with advanced maculopathy (stage 4, geogr aphic atrophy of the retinal pigment epithelium, or stage 5, exudative maculopathy). Both stages 4 and 5 maculopathy were observed among dif ferent individuals in four families. Individuals with stage 3 maculopa thy were members of families with more advanced maculopathy (six famil ies) and were of similar age as more severely affected family members but tended to be older than those with stage 2. CONCLUSION: The phenot ypic appearance of the macula in families with multiple affected indiv iduals is heterogeneous and representative of the spectrum of macular findings typically associated with age-related maculopathy.