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

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 were ascertained, and these were correlated with ODD burden in terms of ODD location and size. Familial ODD was found in eight of the 13 screened families. Hyperreflective lines were present in all individuals with ODD, including both probands and their family members, and in seven out of the 14 family members without ODD. Visual symptoms were reported in 14-50% and associated significantly with superficial ODD location. We found familial ODD in eight of the 13 screened families. Our results aligned with the previously suggested autosomal dominant inheritance pattern with incomplete penetrance, assuming that hyperreflective lines represent a less expressed form of ODD. This emphasizes that ODD runs in families and supports the hypothesis that genetic factors may contribute to the etiology.