Objective: To conduct family studies of the incidence of optic disc drusen and related optic disc anomalies among relatives of those affected.
Design: Retrospective case series with prospective examination of patients and their relatives using B-scan ultrasonography and color photography.
Participants: A total of 27 relatives of 7 probands with bilateral optic disc drusen were examined.
Main outcome measures: Presence of optic disc drusen on clinical examination or B-scan ultrasonography and presence of related anomalies, including absence of optic disc cup and presence of anomalous vasculature.
Results: Only 1 of 27 relatives had optic disc drusen (3.7%). Thirty of 53 eyes had anomalous vessels (57%), and 26 eyes had no optic cup (49%).
Conclusion: The primary pathology of optic disc drusen is likely to be an inherited dysplasia of the optic disc and its blood supply, which predisposes to the formation of optic disc drusen.