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Related Experiment Video

Updated: Jan 18, 2026

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

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

Alvilda H Steensberg¹, Lasse Malmqvist¹, Mette Bertelsen²

¹Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.

Neuro-Ophthalmology (Aeolus Press)

|September 8, 2025

Summary

Optic disc drusen (ODD) often runs in families, suggesting a genetic link. This study found familial ODD in most screened families, supporting an autosomal dominant inheritance pattern with incomplete penetrance.

Keywords:

EDI-OCT Optic disc drusen inheritance genetics heredity optic disc drusen optic nerve head drusen

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Last Updated: Jan 18, 2026

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Published on: September 22, 2017

Area of Science:

Ophthalmology
Genetics
Medical Imaging

Background:

Optic disc drusen (ODD) may have a hereditary component, but its prevalence in families is largely unknown.
Individuals are often asymptomatic and unaware of ODD, complicating familial screening.

Purpose of the Study:

To estimate the prevalence and inheritance pattern of familial ODD.
To investigate ODD-related visual symptoms and their association with ODD location and size.

Main Methods:

Cross-sectional study including 22 ODD patients and 24 family members.
Enhanced depth imaging optical coherence tomography (EDI-OCT) used to assess ODD presence, size, and location.
Correlation of visual symptoms with ODD characteristics.

Main Results:

Familial ODD was identified in 8 out of 13 screened families.
Hyperreflective lines on EDI-OCT were present in all ODD individuals and some without ODD, suggesting incomplete penetrance.
Visual symptoms (14-50%) were significantly associated with superficial ODD location.

Conclusions:

ODD demonstrates familial clustering, supporting an autosomal dominant inheritance pattern with incomplete penetrance.
Hyperreflective lines may indicate a less expressed form of ODD.
Genetic factors likely contribute to the etiology of ODD.