Drusen and photoreceptor abnormalities in African-Americans with intermediate non-neovascular age-related macular...

To investigate the relationship of drusen and photoreceptor abnormalities in African-American (AA) patients with intermediate non-neovascular age-related macular degeneration (AMD).

AA patients with intermediate AMD (n = 11; age 52-77 years) were studied with spectral-domain optical coherence tomography. Macular location and characteristics of large drusen (≥125 µm) were determined. Thickness of photoreceptor laminae was quantified overlying drusen and in other macular regions. A patient with advanced AMD (age 87) was included to illustrate the disease spectrum.

In this AA patient cohort, the spectrum of changes known to occur in AMD, including large drusen, sub-retinal drusenoid deposits and geographic atrophy, were identified. In intermediate AMD eyes (n = 17), there were 183 large drusen, the majority of which were pericentral in location. Overlying the drusen there was significant thinning of the photoreceptor outer nuclear layer (termed ONL(+)) as well as the inner and outer segments (IS + OS). The reductions in IS + OS thickness were directly related to ONL(+) thickness. In a fraction (∼8%) of paradrusen locations with normal lamination sampled within ∼280 µm of peak drusen height, ONL(+) was significantly thickened compared to age and retinal-location-matched normal values. Topographical maps of the macula confirmed ONL thickening in regions neighboring and distant to large drusen.

We confirm there is a pericentral distribution of drusen across AA-AMD maculae rather than the central localization in Caucasian AMD. Reductions in the photoreceptor laminae overlying drusen are evident. ONL(+) thickening in some macular areas of AA-AMD eyes may be an early phenotypic marker for photoreceptor stress.