Neuro-ophthalmology and Neurovestibular Disease*

Date/Time: Monday, September 11, 2023 - 4:15 PM – 5:45 PM
Track: Special Interest Group (SIG) Session
Room: Franklin Hall 13 (4th Floor)
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Chair: Ali Hamedani, MD, MHS

Co-Chair: Scott Grossman, MD 

Neuro-ophthalmic and neuro-otologic diseases are a common cause of neurologic symptoms and reason for referral to neurologists. However, many of these diseases are poorly understood, with limited exposure during neurology training, and teachings from as little as five years ago are outdated as our understanding of them has changed dramatically thanks to active cutting-edge research. In this Special Interest Group session, leaders in the fields of neuro-ophthalmology and neuro-otology will present exciting research on important and emerging topics covering the full spectrum of the afferent and efferent visual and balance systems. The audience will learn about the molecular genetics and treatment of hereditary episodic ataxias, eye movement abnormalities and technological applications in cortical visual impairment, and real-world utilization and treatment outcomes for acute optic neuritis. These will add to the listener’s clinical armamentarium when evaluating patients and facilitate a deeper appreciation of future research advances.

Learning Objectives:

  • To name the genes involved in episodic ataxias type 1 and 2 and the mechanisms by which ion channel mutations lead to symptoms of episodic ataxia.
  • To understand the patterns of abnormal eye movement in cortical visual impairment and how they are measured.
  • To explain the evidence for and utilization of corticosteroids in acute optic neuritis.

Real world healthcare utilization, treatment, and outcomes in acute optic neuritis

Speaker: Lindsey De Lott, MD, MS

Real world data can provide valuable insights into how patients with conditions, such as acute optic neuritis, are treated in clinical practice and highlight opportunities for practice improvement. We will review such existing real-world data about acute optic neuritis and important optic neuritis subtypes with a view toward how these studies can inform implementation of existing and emerging evidence-based therapies.

Molecular genetics and therapies for hereditary episodic ataxia

Speaker: Joanna Jen, MD, PhD

The primary episodic ataxias (EAs) are a group of hereditary disorders characterized by transient recurrent incoordination and truncal instability, often triggered by physical exertion or emotional stress and variably associated with progressive baseline ataxia. Heterozygous/dominant mutations have been identified in multiple individuals and families in 4 of the 9 designated EA subtypes: EA1, EA2, EA6, and EA9, which present mostly with onset early in life, and the genes all encode ion channels. Recently, heterozygous intronic repeat expansions were identified in the FGF14 gene in patients with late onset cerebellar ataxia variably associated with episodic features and downbeat nystagmus, now designated SCA27B. There is clinical evidence in support of the use of acetazolamide and 4-aminopyridine for EA2, and 4-aminopyridine in SCA27B. The study of EA has illuminated previously unrecognised but important roles of ion channels and transporters in brain function, with shared mechanisms underlying progressive cerebellar ataxia, migraine and epilepsy.

Multimodal imaging and outcomes in children with optic pathway gliomas

Speaker: Robert A. Avery DO, MSCE

Caring for children with optic pathway gliomas (OPGs), low grade gliomas along the visual pathway, require a multi-disciplinary approach to the management and treatment of this visually threatening condition. This presentation will cover the use of optical coherence tomography, electrophysiology and advanced MRI techniques currently being evaluated in OPG clinical trials and research studies.

Association between Retinal Microvascular Changes and Late Brain Amyloid Deposition: The ARIC‐PET Study

Oral Abstract Presenter: Marco Egle, PhD

Objective: Cortical amyloid burden may be preceded, likely by years, by alterations in the small cerebral vessels. The retinal microvasculature is both anatomically and physiologically similar to the small vessels in the brain and has been associated with incident clinical stroke and radiological markers of cerebral small vessel disease. This study assessed the mid- and late-life independent retinal microvascular contributions to greater amyloid burden in adults without dementia in late life. Methods: 285 participants without dementia from the ARIC‐PET (Atherosclerosis Risk in Communities‐Positron Emission Tomography) study with a valid retinal measure were included. Four single retinal signs, namely retinopathy, arteriovenous nicking, focal arterial narrowing and generalized arterial narrowing, and a newly created composite retinal measure which summarizes the presence of all four retinal signs into a single score, (unweighted sum of the 4 retinal signs; range 0-3) were evaluated cross-sectionally with florbetapir PET, where greater amyloid burden was defined as a global cortical standardized uptake value ratio (SUVR) > 1.2. Using logistic regression models, the associations between mid- and late-life retinal signs and greater late-life amyloid burden were tested adjusting for age, sex, education, APOE-4 status, and race in model 1 and further accounting for diabetes and hypertension in model 2. Results: Neither retinopathy nor any other single retinal signs in midlife or late life were associated with greater late-life amyloid burden in individuals without dementia. A high retinal composite score in late life, indicating a higher burden of retinal abnormalities, was however associated with greater amyloid burden when adjusting for demographic and genetic confounders (OR(95% CI)= 3.58 (1.09, 14.2) but not when further accounting for the vascular risk factors (OR (95% CI)= 3.02 (0.88, 12.3). Interpretation: A composite retinal score accounting for multiple retinal vascular abnormalities may serve as a risk indicator for greater amyloid burden in the general population. Well-powered future studies with a greater number of participants with retinopathy and other microvascular signs are needed to test these findings and to reevaluate the role of retinal microvascular signs on amyloid burden above and beyond vascular risk factors.

Validation of the 2023 International MOGAD Panel Proposed Criteria: An Institutional Cohort

Oral Abstract Presenter: Malak Alaboudi, MD

Background: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently defined demyelinating disorder with a rapidly evolving clinical spectrum. Recently, consensus criteria have been proposed to help with disease diagnosis (Banwell et al., The Lancet, 2023). However, validation of the proposed criteria in real-life MOGAD patients is lacking. In this study, we applied the proposed criteria to a cohort of MOG antibody-positive patients. Methods: A retrospective study was conducted at a tertiary neuroimmunology clinic from 2018 to 2023. Patients who had at least one core clinical feature of MOGAD and positive serum MOG antibody by cell-based assay were included. Demographics and clinical data were recorded and analyzed. Cases were divided into definite MOGAD, questionable MOGAD, and false-positive MOGAD as determined by the treating neuroimmunology and/or neuro-ophthalmology specialists prior to applying the new MOGAD criteria. Results: A total of 27 patients were included, of which 20 (74%) were female, the average age of the sample was 44 +/- 15 years. High titer (≥ 1:100) was found in 11 patients (40.7%) and low titer (< 1:100) in 12 (44.4%). A total of 22 (81.5%) met the 2023 MOGAD criteria. As determined by expert opinion; 18 (66.7%) were identified as definitive MOGAD, 6 (22.2%) as false-positive MOGAD, and 3 (11.1%) as questionable MOGAD. All 18 patients identified by clinicians as definite MOGAD met the new 2023 criteria. Of the 9 patients with questionable MOGAD or false-positive MOG antibody, four patients met the 2023 MOGAD criteria. Those four patients had the following final diagnoses: pseudotumor cerebri, paraneoplastic retinopathy and bevacizumab-induced anterior ischemic optic neuropathy, CNS vasculitis, and primary progressive MS with relapses. Compared to clinician assessment, applying the 2023 MOGAD criteria to our institutional cohort yielded a sensitivity of 100%, a specificity of 55.5%, a positive predictive value of 81.5%, and a negative predictive value of 100%. Conclusion: These findings suggest that the 2023 MOGAD criteria are highly sensitive for detection of definite MOGAD but has modest specificity. A number of MOGAD mimickers can resemble the core clinical events of MOGAD and share similar supportive clinical and MRI features. Clinicians should practice caution when evaluating patients with low titer MOG antibody even if they meet the additional supportive features proposed by the 2023 criteria. Further studies are needed to evaluate the 2023 criteria in larger cohorts and in the pediatric population.