Petzold, Axel; (2024) Breaking news for rare diseases in neuro-ophthalmology. Presented at: ERN-EYE Scientific Workshop, Madrid, Spain.

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Abstract

**Updates in Neuro-Ophthalmology: A Comprehensive Review of Rare Disorders and Innovations** This presentation highlights recent advancements and challenges in neuro-ophthalmology, focusing on rare conditions and emerging technologies. Key topics include updates on **corticosteroid use in rare optic neuritis (ON)** and the nuanced **management of idiopathic intracranial hypertension (IIH)** in atypical cases. Rare visual phenomena are explored, such as **adult-onset oscillopsia** and the intriguing **visual snow syndrome**, alongside insights into the prevalence and management of **functional visual loss**. Advancements in the treatment of neuro-ophthalmological disorders are reviewed, including why therapies often fail in **non-arteritic anterior ischemic optic neuropathy (NAION)** and novel approaches to **calcification in genetic eye diseases** such as optic disc drusen (ODD). Updates on rare infectious conditions are covered, such as **varicella-zoster virus (VZV) retinitis**, **herpes zoster virus (HZV)** manifestations, and the neuro-ophthalmological presentations of **neurosyphilis** and **penicillin-induced ON**. Imaging and diagnostic innovations feature prominently, with discussions on **rare anatomical variations of the chiasm**, **cutting-edge MRI and OCT findings**, and breakthroughs in **CRAO imaging**. Novel applications of **in vivo confocal microscopy** for corneal neuropathic pain (CNP) and **pupillometry** for diagnostics are also detailed. Updates on electrophysiological techniques such as **VEP and ERG** in rare genetic diseases are presented, alongside a review of emerging **mobile apps** for neuro-ophthalmology. Clinical data aggregation and workforce innovation are addressed through the role of **big data in rare diseases**, novel trials in **giant cell arteritis (GCA)**, and the development of specialized clinics and interdisciplinary teams. Finally, updates on the "wiring" of the visual system and **rare ocular myasthenia gravis (MG)** are discussed, providing a holistic view of the latest in this evolving field. This session underscores the importance of collaboration, innovation, and precision in addressing the unique challenges posed by rare neuro-ophthalmological conditions.

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