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

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

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)1311-1318
Number of pages8
JournalRetina
Volume42
Issue number7
DOIs
StatePublished - 1 Jul 2022

Keywords

  • age-related macular degeneration
  • cardiovascular disease
  • choroid
  • drusen
  • genetics
  • risk factors
  • stroke
  • subretinal drusenoid deposits

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