SUBRETINAL DRUSENOID DEPOSITS AND SOFT DRUSEN: Are They Markers for Distinct Retinal Diseases? : RETINA

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SUBRETINAL DRUSENOID DEPOSITS AND SOFT DRUSEN

Are They Markers for Distinct Retinal Diseases?

Thomson, Robert J. BS*; Chazaro, Joshua BS*,†; Otero-Marquez, Oscar MD; Ledesma-Gil, Gerardo MD‡,§,¶; Tong, Yuehong PhD‡,**; Coughlin, Arielle C. BA††; Teibel, Zachary R. MD‡‡; Alauddin, Sharmina MD; Tai, Katy BA; Lloyd, Harriet BA; Scolaro, Maria MA§; Govindaiah, Arun MS§§; Bhuiyan, Alauddin PhD**; Dhamoon, Mandip S. MD¶¶; Deobhakta, Avnish MD; Narula, Jagat MD***; Rosen, Richard B. MD; Yannuzzi, Lawrence A. MD§; Freund, K. Bailey MD§,†††; Smith, R. Theodore MD, PhD‡,**

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Retina 42(7):p 1311-1318, July 2022. | DOI: 10.1097/IAE.0000000000003460

Purpose: 

Soft drusen and subretinal drusenoid deposits (SDDs) characterize two pathways to advanced age-related macular degeneration (AMD), with distinct genetic risks, serum risks, and associated systemic diseases.

Methods: 

One hundred and twenty-six subjects with AMD were classified as SDD (with or without soft drusen) or non-SDD (drusen only) by retinal imaging, with serum risks, genetic testing, and histories of cardiovascular disease (CVD) and stroke.

Results: 

There were 62 subjects with SDD and 64 non-SDD subjects, of whom 51 had CVD or stroke. SDD correlated significantly with lower mean serum high-density lipoprotein (61 ± 18 vs. 69 ± 22 mg/dL, P = 0.038, t-test), CVD and stroke (34 of 51 SDD, P = 0.001, chi square), ARMS2 risk allele (P = 0.019, chi square), but not with CFH risk allele (P = 0.66). Non-SDD (drusen only) correlated/trended with APOE2 (P = 0.032) and CETP (P = 0.072) risk alleles (chi square). Multivariate independent risks for SDD were CVD and stroke (P = 0.008) and ARMS2 homozygous risk (P = 0.038).

Conclusion: 

Subjects with subretinal drusenoid deposits and non-SDD subjects have distinct systemic associations and serum and genetic risks. Subretinal drusenoid deposits are associated with CVD and stroke, ARMS2 risk, and lower high-density lipoprotein; non-SDDs are associated with higher high-density lipoprotein, CFH risk, and two lipid risk genes. These and other distinct associations suggest that these lesions are markers for distinct diseases.

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