ArticleTranslational vision science & technology2026
Distinct Genetic Profiles Associated With Subretinal Drusenoid Deposits and Cardiovascular Risk in Age-Related Macular Degeneration.
Article in Translational vision science & technology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Subretinal drusenoid deposits (SDDs) are increasingly recognized as a distinct phenotype in age-related macular degeneration (AMD) and may be linked to cardiovascular disease (CVD). This study aims to explore whether AMD patients with SDDs carry a distinct genetic profile related to CVD risk compared to those without SDDs. Methods: In a retrospective cohort of 459 AMD patients with genotyping and spectral-domain OCT data, we annotated SDD status and extracted cardiovascular diagnoses and procedures from electronic medical records. Fifty-two AMD-associated single-nucleotide polymorphisms (SNPs) were used to calculate weighted genetic risk scores (GRSs), and minor allele frequencies (MAFs) were compared between groups. Principal component analysis (PCA) was performed to assess clustering by SDD status within CVD subgroups. Results: Patients with SDDs exhibited distinct MAFs in several SNPs, including CFH, ARMS2, COL4A3, and ARHGAP21. Certain variants were more strongly associated with cardiovascular subtypes in patients with SDDs compared to those without. GRSs related to lipid metabolism and complement pathways were higher among SDD-positive patients within selected CVD subgroups. PCA suggested modest but significant separation between genetic profiles of patients with and without SDDs. Conclusions: AMD patients with SDDs show distinct genetic signatures potentially relevant to cardiovascular health. These findings suggest that SDDs may represent a genetically and systemically unique AMD phenotype. Further investigation is warranted to understand the shared pathophysiology and potential for systemic risk stratification. Translational Relevance: Integrating OCT phenotyping and genomic profiling in AMD may uncover systemic disease associations with implications for precision medicine.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.