SEARCHCOHORTophthalmology, retina

cohort·ophthalmology, retina, epidemiology, clinical trial, observational study·PMC10805990

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

Graefe's Archive for Clinical and Experimental Ophthalmology · 7 authors, 3 centres

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TL;DR

All participants underwent standardized ophthalmic examination including SD-OCT and IR en face imaging, with SDD graded by two graders according to a previously described classification.

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All participants underwent standardized ophthalmic examination including SD-OCT and IR en face imaging, with SDD graded by two graders according to a previously described classification. Genetic sequencing and AMD polygenic risk score calculation were performed. In multivariable logistic regression, older age was significantly associated with SDD presence (per year OR 1.27, 95% CI 1.17 to 1.41, P < 0.001). A borderline association of higher BMI with SDD presence was found in relatives (OR 1.16, 95% CI 1.00 to 1.45, P = 0.08). Only two of seven relatives with SDD showed clinical signs of intermediate AMD. Individuals with SDD tended to have a higher PRS, which did not remain significant in multivariable models. The study is limited by small sample size, relatively young relatives, and potential selection bias.

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cohort

SPECIALTY

ophthalmology

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ORIGINAL PAPER

PMC10805990

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

Graefe's Archive for Clinical and Experimental Ophthalmology

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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. Supplementary Information The online version contains supplementary material available at 10.1007/s00417-023-06221-y.

CITATION EXPORT

Matthias M. Mauschitz, Benedikt J. Hochbein, Hannah Klinkhammer et al.. Prevalence and determinants of subretinal drusenoid deposits in patients’ first-degree relatives. Graefe's Archive for Clinical and Experimental Ophthalmology. (2023). https://doi.org/10.1007/s00417-023-06221-y

AUTHORS

7 · 3 CENTRES

Matthias M. Mauschitz, Benedikt J. Hochbein, Hannah Klinkhammer, Marlene Saßmannshausen, Jan H. Terheyden, Peter Krawitz, Robert P. Finger

1https://ror.org/041nas322grid.10388.320000 0001 2240 3300Department of Ophthalmology, University Bonn, Ernst-Abbe-Straße 2, 53127 Bonn, Germany
2https://ror.org/041nas322grid.10388.320000 0001 2240 3300Institute for Genomic Statistics and Bioinformatics, University Bonn, Bonn, Germany
3https://ror.org/041nas322grid.10388.320000 0001 2240 3300Institute for Medical Biometry, Informatics and Epidemiology, University Bonn, Bonn, Germany