NMO or NOT NMO, That Is the Question
| Identifier | walsh_2023_s1_c5 |
| Title | NMO or NOT NMO, That Is the Question |
| Creator | Carolyne Riehle, Emily Spoth, Jill Wilson, Bradley Katz, Meagan Seay, Sravanthi Vegunta, Judith Warner, Kathleen Digre |
| Affiliation | (CR) (SV) Moran Eye Center; (ES) (MS) University of Utah, Moran Eye Center; (JW) University of Utah Health; (BK) John A. Moran Eye Center; University of Utah Health; (JW) University of Utah Health, Moran Eye Center; (KD) University of Utah |
| Subject | Optic Neuropathy; Neuromyelitis Optica (NMO); Myopathy |
| Description | A healthy 18-year-old woman presented with sub-acute painless vision loss in the left eye. On annual exam she was found to have a central scotoma in the left eye. Visual acuity was 20/15 in the right eye and 20/400 in the left eye, with an afferent pupillary defect. A visual evoked potential was normal on the right and showed increased latency of P100 on the left. A contrast enhanced MRI showed longitudinal enhancement of the left optic nerve. |
| Date | 2023-03 |
| References | 1. Baderna, V., Schultz, J., Kearns, L.S. et al. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy. acta neuropathol commun 8, 93 (2020). https://doi.org/10.1186/s40478-020-00975-w 2. Caporali, L., Magri, S., Legati, A., Del Dotto, V., Tagliavini, F., Balistreri, F., Nasca, A., La Morgia, C., Carbonelli, M., Valentino, M.L., Lamantea, E., Baratta, S., Schöls, L., Schüle, R., Barboni, P., Cascavilla, M.L., Maresca, A., Capristo, M., Ardissone, A., Pareyson, D., Cammarata, G., Melzi, L., Zeviani, M., Peverelli, L., Lamperti, C., Marzoli, S.B., Fang, M., Synofzik, M., Ghezzi, D., Carelli, V. and Taroni, F. (2020), ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. Ann Neurol, 88: 18-32. https://doi.org/10.1002/ana.25723 3. Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, et al. (2020) Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy Neurol, 6 (3) e428; DOI: 10.1212/NXG.0000000000000428 4. Charif M, Roubertie A, Salime S, Mamouni S, Goizet C, Hamel CP, Lenaers G. A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability. Front Genet. 2015 Oct 19;6:311. doi: 10.3389/fgene.2015.00311. PMID: 26539208; PMCID: PMC4609881. 5. Colavito D et al. Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene. Biomed Rep. 2017;7 (5):451-454. |
| Language | eng |
| Format | application/pdf |
| Type | Text |
| Source | 49th Annual North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of | NANOS Annual Meeting 2023: Walsh Society Meeting Session I: "Adventureland": Learning From Pediatric Neuro-Ophthalmic Disorders: https://novel.utah.edu/collection/NAM/toc/ |
| Collection | Neuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher | North American Neuro-Ophthalmology Society |
| Holding Institution | Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890 |
| Rights Management | Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK | ark:/87278/s6k800ha |
| Setname | ehsl_novel_nam |
| ID | 2389041 |
| Reference URL | https://collections.lib.utah.edu/ark:/87278/s6k800ha |