TY - JOUR
T1 - SUBRETINAL DRUSENOID DEPOSITS AND SOFT DRUSEN
T2 - Are They Markers for Distinct Retinal Diseases?
AU - Thomson, Robert J.
AU - Chazaro, Joshua
AU - Otero-Marquez, Oscar
AU - Ledesma-Gil, Gerardo
AU - Tong, Yuehong
AU - Coughlin, Arielle C.
AU - Teibel, Zachary R.
AU - Alauddin, Sharmina
AU - Tai, Katy
AU - Lloyd, Harriet
AU - Scolaro, Maria
AU - Govindaiah, Arun
AU - Bhuiyan, Alauddin
AU - Dhamoon, Mandip S.
AU - Deobhakta, Avnish
AU - Narula, Jagat
AU - Rosen, Richard B.
AU - Yannuzzi, Lawrence A.
AU - Freund, K. Bailey
AU - Smith, R. Theodore
N1 - Funding Information:
Regeneron Pharmaceuticals Investigator-Initiated Study, Research to Prevent Blindness Challenge Grant, Macula Foundation (K.B.F.), Bayer-Global Ophthalmology Awards (G.L.G.), and International Council of Ophthalmology-Alcon Fellowship (O.O.M.).
Funding Information:
He has personal financial interests in Opticology, Guardion, and CellView. K. B. Freund is a consultant to Regeneron, Allergan, Zeiss, Bayer, Heidelberg Engineering, and Novartis. He receives research funding from Genentech/Roche
Publisher Copyright:
© 2022 Lippincott Williams and Wilkins. All rights reserved.
PY - 2022/7/1
Y1 - 2022/7/1
N2 - 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.
AB - 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.
KW - age-related macular degeneration
KW - cardiovascular disease
KW - choroid
KW - drusen
KW - genetics
KW - risk factors
KW - stroke
KW - subretinal drusenoid deposits
UR - http://www.scopus.com/inward/record.url?scp=85132456194&partnerID=8YFLogxK
U2 - 10.1097/IAE.0000000000003460
DO - 10.1097/IAE.0000000000003460
M3 - Article
C2 - 35213528
AN - SCOPUS:85132456194
SN - 0275-004X
VL - 42
SP - 1311
EP - 1318
JO - Retina
JF - Retina
IS - 7
ER -