Prevalence and determinants of subretinal drusenoid deposits in patients’ first-degree relatives

Abstract

Purpose Subretinal drusenoid deposits (SDDs) are distinct extracellular alteration anterior to the retinal pigment epithelium (RPE). Given their commonly uniform phenotype, a hereditary predisposition seems likely. Hence, we aim to investigate prevalence and determinants in patients’ first-degree relatives. Methods We recruited SDD outpatients at their visits to our clinic and invited their relatives. We performed a full ophthalmic examination including spectral domain–optical coherence tomography (SD-OCT) and graded presence, disease stage of SDD as well as percentage of infrared (IR) en face area affected by SDD. Moreover, we performed genetic sequencing and calculated a polygenic risk score (PRS) for AMD. We conducted multivariable regression models to assess potential determinants of SDD and associations of SDD with PRS. Results We included 195 participants, 123 patients (mean age 81.4 ± 7.2 years) and 72 relatives (mean age 52.2 ± 14.2 years), of which 7 presented SDD, resulting in a prevalence of 9.7%. We found older age to be associated with SDD presence and area in the total cohort and a borderline association of higher body mass index (BMI) with SDD presence in the relatives. Individuals with SDD tended to have a higher PRS, which, however, was not statistically significant in the multivariable regression. Conclusion Our study indicates a potential hereditary aspect of SDD and confirms the strong association with age. Based on our results, relatives of SDD patients ought to be closely monitored for retinal alterations, particularly at an older age. Further longitudinal studies with larger sample size and older relatives are needed to confirm or refute our findings.

Association between Subretinal Drusenoid Deposits and Age-Related Macular Degeneration in Multimodal Retinal Imaging

“…Demographic information, including age, sex, ocular and systemic comorbidities, drug use, smoking status, physical activity, and medical history, was obtained for each patient by a physician or trained nurse. Since an association between obesity and the presence of SDD has been previously reported, the waist/hip ratio (WHR) and body mass index (BMI) [weight (kg)/height (m) 2 ] of all enrolled subjects were also assessed [15,23,24]. To assess the possible influence of smoking on the occurrence of SDD, as previously reported, the cumulative number of pack years was calculated (the average number of cigarettes smoked per day was multiplied by the number of years of smoking) [15,25,26].…”

Non-Neovascular Age-Related Macular Degeneration Assessment: Focus on Optical Coherence Tomography Biomarkers

“…Evidence suggests a high correlation between the presence of SDDs and the progression to advanced stages of AMG, especially GA but also the neovascular subtype [135,136]. Reports also suggest a possible hereditary aspect of SDDs in first-degree relatives [137]. Furthermore, even though multiple studies have not found a strong correlation between AMD and cardio-vascular diseases, the presence of SDDs in this specific phenotype of AMD patients appears to emerge as an independent risk factor for systemic vascular diseases including stroke [138,139].…”