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 de

SUBMITTER: Mauschitz MM 

PROVIDER: S-EPMC10805990 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature