Recent discoveries could explain why some people are more at risk for developing age-related macular degeneration and guide future treatments

https://pubmed.ncbi.nlm.nih.gov/39756691/

January 2025

The Centers for Disease Control and Prevention estimates that age-related macular degeneration (AMD) affects 19 million American adults over the age of 40, and the World Health Organization designates it as one of the leading causes of vision impairment and blindness globally.

A newly released study conducted by researchers at UC San Diego Shiley Eye Institute and Viterbi Family Department of Ophthalmology, led by Christopher B. Toomey, MD, PhD, Assistant Professor of Clinical Ophthalmology, suggests a link between cholesterol and the risk of developing AMD.

The study published online in the January 3, 2025 edition of Ophthalmology, the journal of the American Academy of Ophthalmology, found that elevated levels of HDL (high-density lipoprotein) or “good” cholesterol may increase the risk of developing AMD.

SEI researchers evaluated the genomic data of 5,028 healthy individuals and 2,328 individuals with AMD from the National Institutes of Health All of Us Research Program.

Results suggest that both low and high HDL levels are linked to an increased risk of developing AMD. Toomey noted, “A “U-shaped relationship” is created, meaning that there is an ideal range for HDL and that being too low or high may increase the risk of developing AMD.”

Inherited genetic findings suggest that ABCA1 and LIPC genes — which impact how the body handles HDL — are linked to an increased risk of developing AMD. Also, having Lipoprotein (a) — a type of lipoprotein or fat in the body — may increase a person’s risk of developing AMD.

“This study establishes that HDL-cholesterol levels correlate with the risk of developing AMD. Patients with high HDL or very low HDL are at greater risk, suggesting that maintaining the proper level of HDL is important for macular health. HDL is thought to be the “good” cholesterol but at the extremes HDL increases the risk of cardiovascular disease (stroke and heart attacks) and AMD,” said Toomey.

Funding support for the study came in part from NEI 5K12EY024225-08, Research to Prevent Blindness Career Development Award RPB CDA 2023, Robert Machemer, MD and International Retinal Research Foundation RMF-IRRF-001-2022, and the UC San Diego Academic Senate, grant HL131474 from the National Heart, Lung and Blood Institute, NIH Office of the Director grant DP5OD029610, NEI grant P30EY022589, and unrestricted departmental grant from Research to Prevent Blindness.

The All of Us Research Program is funded by grants through the National Institutes of Health, Office of the Director: Regional Medical Centers: 1 OT2 OD026549; 1 OT2 OD026554; 1 OT2 OD026557; 1 OT2 OD026556; 1 OT2 OD026550; 1 OT2 OD 026552; 1 OT2 OD026553; 1 OT2 OD026548; 1 OT2 OD026551; 1 OT2 OD026555; IAA #: AOD 16037; Federally Qualified Health Centers: HHSN 263201600085U; Data and Research Center: 5 U2C OD023196; Biobank: 1 U24 OD023121; The Participant Center: U24 OD023176; Participant Technology Systems Center: 1 U24 OD023163; Communications and Engagement: 3 OT2 OD023205; 3 OT2 OD023206; and Community Partners: 1 OT2 OD025277; 3 OT2 OD025315; 1 OT2 OD025337; 1 OT2 OD025276.

Additional co-authors of the study include Sally L. Baxter MD, MSc, Jimmy S. Chen, MD and Evan Walker, MSc, Shiley Eye Institute and Viterbi Family Department of Ophthalmology at UC San Diego; Jeffrey D. Esko, PhD and Philip L.S.M. Gordts, PhD, Glycobiology Research and Training Center at UC San Diego.

Shiley Eye Institute Media Contact:
Naomi Kleinschmit
[email protected]