Optic disc anomalies represent a critical area of research within ophthalmology, characterized by structural malformations of the optic nerve and surrounding tissues. These anomalies can lead to significant visual impairment and are often associated with a variety of systemic or central nervous system malformations. The precise mechanisms underlying these anomalies remain incompletely understood, and they may be associated with genetic factors. The advent of ophthalmic multimodal imaging, including techniques such as optical coherence tomography and fundus autofluorescence, has provided new insights into the pathogenesis of these conditions. However, there remains a need for further investigation into the diagnostic and prognostic capabilities of these imaging modalities, as well as a deeper understanding of the genetic and environmental factors contributing to optic disc anomalies.

This research topic aims to explore the advances in understanding the pathogenesis, genetics, and imaging techniques related to optic disc anomalies. The primary objectives include elucidating the genetic underpinnings of these anomalies, evaluating the efficacy of multimodal imaging as diagnostic and prognostic tools, and understanding the broader implications of these anomalies in systemic diseases. By addressing these objectives, the research seeks to answer critical questions about the development and progression of optic disc anomalies and their associated diseases.

To gather further insights into the complexities of optic disc anomalies and associated diseases, we welcome articles addressing, but not limited to, the following themes:

- Genetic factors and their role in the development of optic disc anomalies
- Advances in multimodal imaging techniques and their diagnostic value
- The relationship between optic disc anomalies and systemic or central nervous system malformations
- Case studies highlighting unique presentations of optic disc anomalies
- The impact of optic disc anomalies on visual function and quality of life
- Novel therapeutic approaches and interventions for managing optic disc anomalies

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Frontiers in Neurology

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