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

dc.contributor.advisorFinger, Robert Patrick
dc.contributor.authorHochbein, Benedikt Jasper
dc.date.accessioned2025-07-04T14:12:34Z
dc.date.available2025-07-04T14:12:34Z
dc.date.issued04.07.2025
dc.identifier.urihttps://hdl.handle.net/20.500.11811/13182
dc.description.abstractPurpose: 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 ophthal- mic 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 pres- ence 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.
en
dc.language.isodeu
dc.rightsIn Copyright
dc.rights.urihttp://rightsstatements.org/vocab/InC/1.0/
dc.subjectMedizin
dc.subjectAugenheilkunde
dc.subjectSDD
dc.subjectPseudodrusen
dc.subjectsubretinal drusenoid deposits
dc.subject.ddc610 Medizin, Gesundheit
dc.titlePrevalence and determinants of subretinal drusenoid deposits in patients' first-degree relatives
dc.typeDissertation oder Habilitation
dc.publisher.nameUniversitäts- und Landesbibliothek Bonn
dc.publisher.locationBonn
dc.rights.accessRightsopenAccess
dc.identifier.urnhttps://nbn-resolving.org/urn:nbn:de:hbz:5-83521
dc.relation.doihttps://doi.org/10.1007/s00417-023-06221-y
ulbbn.pubtypeErstveröffentlichung
ulbbnediss.affiliation.nameRheinische Friedrich-Wilhelms-Universität Bonn
ulbbnediss.affiliation.locationBonn
ulbbnediss.thesis.levelDissertation
ulbbnediss.dissID8352
ulbbnediss.date.accepted07.04.2025
ulbbnediss.instituteMedizinische Fakultät / Kliniken : Augenklinik
ulbbnediss.fakultaetMedizinische Fakultät
dc.contributor.coRefereeSchäfer, Valentin S.


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