Optic Disc Drusen in Children: An Updated Clinical and Imaging Perspective.

BACKGROUND

The optic disc in a child with optic disc drusen (ODD) frequently mimics the optic disc in a child with papilledema, which may lead to unnecessary invasive investigations. Recent advances in imaging have transformed our understanding of pediatric ODD.

METHODS

We reviewed the literature from 2018 to 2025, focusing on pediatric cohorts and novel imaging modalities, including optical coherence tomography (OCT) and OCT angiography (OCTA), and artificial intelligence (AI).

RESULTS

Enhanced depth imaging OCT (EDI-OCT) has become the diagnostic reference standard with high sensitivity for detecting both superficial and deep ODD. A peripapillary hyper-reflective ovoid mass-like structure (PHOMS) is reported in up to 90% of children with ODD, in 8.9% of healthy children, and in over 80% of idiopathic intracranial hypertension (IIH) cohorts. A PHOMS primarily reflects optic nerve head crowding and displaced ganglion cell axons. Its high prevalence makes PHOMS a frequent confounder in the evaluation of pediatric optic disc elevation, emphasizing the importance of multimodal imaging. In addition, OCT-based deep-learning algorithms are emerging to enhance diagnostic accuracy, whereas fundus-photo-based algorithms have shown strong performance in differentiating buried ODD from mild papilledema.

CONCLUSIONS

Recent imaging technologies and longitudinal data have reframed pediatric ODD as dynamic lesions with measurable progression. Integration of OCT, OCTA, and AI-with awareness of PHOMS as a frequent and confounding finding-supports accurate diagnosis, risk stratification, and structured follow-up while reducing unnecessary invasive testing.