Age-related macular degeneration, subretinal drusenoid deposits, and cuticular and calcified drusen in black and hispanic subjects

Background: Subretinal drusenoid deposits (SDDs), cuticular drusen, and calcified drusen have been linked to rapid progression of age-related macular degeneration (AMD). SDDs have also been linked to high-risk vascular diseases (HRVDs). However, SDDs, cuticular drusen, and calcified drusen have not been reported in Black and Hispanic populations. We report that these drusen phenotypes occur in Black and Hispanic AMD patients. Methods: Twenty-three Black and Hispanic AMD subjects were identified in a published cross-sectional study of 200 AMD subjects. Spectral-domain optical coherence tomography, near-infrared reflectance imaging, and lipid profiles were obtained in the parent study. Masked readers assigned subjects into 2 groups: SDDs, present with or without drusen, and drusen only, as in the parent study. Calcified and cuticular drusen were independently identified. Subjects were assigned by health history questionnaires into those with or without HRVDs, defined as: cardiac valve defect (i.e., aortic stenosis), myocardial defect (i.e., myocardial infarction), and stroke/transient ischemic attack. Results: 10/23 subjects were in the SDD group (3 Black and 7 Hispanic subjects), 13 of 23 were in the drusen only group. 4/23 subjects were identified with cuticular drusen (1 Black and 3 Hispanic subjects) and 4/23 subjects were identified with calcified drusen (2 Black and 2 Hispanic Subjects). All subjects had respective phenotypes indistinguishable from that of White subjects. 3/10 SDD subjects had HRVDs. Conclusions: We report, for the first time to our knowledge, that subretinal drusenoid deposits, calcified drusen, and cuticular drusen are present in some AMD patients who identify as Black or Hispanic. A strong association of SDDs with HRVDs was discovered in the parent study. These diseases are known to be over-represented in these under-served populations. SDDs, calcified drusen, and cuticular drusen also confer high risk for progression to advanced AMD. A diligent search for these drusen phenotypes in minority patients with AMD or with HRVDs is thus warranted. Further studies of larger cohorts of Black and Hispanic AMD subjects are needed to better assess associations of these drusen subtypes with life threatening diseases.