Department of Ophthalmology, University Bonn, Ernst-Abbe-Straße 2, 53127, Bonn, Germany.
Institute for Genomic Statistics and Bioinformatics, University Bonn, Bonn, Germany.
Graefes Arch Clin Exp Ophthalmol. 2024 Jan;262(1):53-60. doi: 10.1007/s00417-023-06221-y. Epub 2023 Sep 6.
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.
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.
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.
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.
视网膜下类脂沉积（SDD）是位于视网膜色素上皮（RPE）前的独特细胞外改变。鉴于其常见的均匀表型，遗传易感性似乎很可能。因此，我们旨在研究患者一级亲属中的患病率和决定因素。
我们在就诊时招募了 SDD 门诊患者，并邀请了他们的亲属。我们进行了全面的眼科检查，包括光谱域光学相干断层扫描（SD-OCT）和分级存在、SDD 的疾病阶段以及受 SDD 影响的红外（IR）迎面区域的百分比。此外，我们进行了基因测序并计算了 AMD 的多基因风险评分（PRS）。我们进行了多变量回归模型来评估 SDD 的潜在决定因素以及 SDD 与 PRS 的关联。
我们纳入了 195 名参与者，其中 123 名患者（平均年龄 81.4 ± 7.2 岁）和 72 名亲属（平均年龄 52.2 ± 14.2 岁），其中 7 名亲属患有 SDD，患病率为 9.7%。我们发现年龄较大与总队列中 SDD 的存在和面积相关，并且亲属中较高的体重指数（BMI）与 SDD 的存在存在边缘关联。患有 SDD 的个体倾向于具有更高的 PRS，但在多变量回归中这并不具有统计学意义。
我们的研究表明 SDD 存在潜在的遗传因素，并证实了与年龄的强烈关联。基于我们的结果，SDD 患者的亲属应该密切监测视网膜变化，尤其是在年龄较大时。需要进一步进行具有更大样本量和年龄较大亲属的纵向研究来证实或反驳我们的发现。
