Prevalence Screening for Familial Optic Disc Drusen: A Cross-Sectional Study.

ABSTRACT: Optic disc drusen (ODD) may present in multiple individuals and generations within a family, indicating hereditary predisposition. Individuals are often unaware of their ODD, and consequently, the prevalence of ODD within families remains largely unknown. The aim of this study was to estimate the prevalence and consider the inheritance pattern of familial ODD and to investigate ODD-related symptoms and their association to ODD location and size. In this cross-sectional study, 22 ODD patients, aged 10 years or older, were included. Of these, 13 ODD probands had 24 family members participating. The presence, size, and anatomical location of ODDs and the presence of hyperreflective lines were ascertained using enhanced depth imaging optical coherence tomography (EDI-OCT) scan. Visual symptoms

SUBMITTER: Steensberg AH 

PROVIDER: S-EPMC12409904 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature