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Collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes

OBJECTIVE: Collapsin response mediator protein 5-associated optic neuropathy (CRMP5-ON) is a rare entity of autoimmune optic neuropathy. This study aimed to review the neuro-ophthalmic findings and outcomes in a series of patients with CRMP5-ON to further characterize its clinical phenotype, radiolo...

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Autores principales: Yan, Rong, Mao, Yu, Zeng, Huiyang, Liu, Qian, Jiang, Hanqiu, Peng, Jingting, Yang, Qingling, Cui, Shilei, Liu, Lei, Guo, Yanjun, Wang, Jiawei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337587/
https://www.ncbi.nlm.nih.gov/pubmed/37448746
http://dx.doi.org/10.3389/fneur.2023.1163615
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author Yan, Rong
Mao, Yu
Zeng, Huiyang
Liu, Qian
Jiang, Hanqiu
Peng, Jingting
Yang, Qingling
Cui, Shilei
Liu, Lei
Guo, Yanjun
Wang, Jiawei
author_facet Yan, Rong
Mao, Yu
Zeng, Huiyang
Liu, Qian
Jiang, Hanqiu
Peng, Jingting
Yang, Qingling
Cui, Shilei
Liu, Lei
Guo, Yanjun
Wang, Jiawei
author_sort Yan, Rong
collection PubMed
description OBJECTIVE: Collapsin response mediator protein 5-associated optic neuropathy (CRMP5-ON) is a rare entity of autoimmune optic neuropathy. This study aimed to review the neuro-ophthalmic findings and outcomes in a series of patients with CRMP5-ON to further characterize its clinical phenotype, radiologic clues, and outcomes. METHODS: This was a retrospective case series and a single-center medical chart review of all patients with CRPM5-seropositive ON at the Department of Neurology, Beijing Tongren Hospital, from December 1, 2020, to March 31, 2023. The main outcome measures were neuro-ophthalmic manifestations, radiologic characteristics, and clinical outcomes of CRMP5-ON; coexisting neural autoantibody, paraneoplastic associations, and the impact of immunosuppressant therapy. RESULTS: Five patients were identified. Four (80%) were female, and the average age at onset was 59.4 years (range 53–69 years), with an average follow-up of 15.3 months (range 1.4–28.7 months). The average best-corrected visual acuity (BCVA) at nadir was 20/120 (range 20/20 to count fingers). Seven of ten affected eyes (70%) showed diffuse defects of the central field. Painless bilateral involvement and optic disk edema occurred in 100% of patients, combined with vitritis, uveitis, or retinitis in four (80%). Four patients (80%) had MRI abnormalities along the optic nerve (one patient with optic nerve enhancement and three patients had optic nerve sheath enhancement or peribulbar fat enhancement). Three patients (60%) had optic neuropathy with other neurologic symptoms. Four patients (80%) had confirmed cancer (two were small-cell lung carcinoma, one was papillary thyroid carcinoma and another was thymoma and invasive pulmonary adenocarcinoma). All cancers were identified after the presentation of the optic neuropathy. The intervention included IVIG, IVMP, surgery and chemotherapy. The average BCVA at the last follow-up was 20/50 (range 20/20 to count fingers). Three patients had surgery during the initial hospitalization, and were stable during the follow-up. Among two patients who received IVMP, both had improvement after treatment, although one patient had worsening non-ocular neurologic symptoms during the steroid taper. CONCLUSION: CRMP5-ON presented with optic disc edema, often bilateral involved and combined with vitreitis, retinitis, or uveitis. CRMP5-ON can present with MRI optic nerve or perineural optic nerve enhancement, especially in the optic nerve sheath. CRMP5-ON is closely related to paraneoplastic neurologic syndrome. Cancer screening and intervention are crucial to prognosis.
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spelling pubmed-103375872023-07-13 Collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes Yan, Rong Mao, Yu Zeng, Huiyang Liu, Qian Jiang, Hanqiu Peng, Jingting Yang, Qingling Cui, Shilei Liu, Lei Guo, Yanjun Wang, Jiawei Front Neurol Neurology OBJECTIVE: Collapsin response mediator protein 5-associated optic neuropathy (CRMP5-ON) is a rare entity of autoimmune optic neuropathy. This study aimed to review the neuro-ophthalmic findings and outcomes in a series of patients with CRMP5-ON to further characterize its clinical phenotype, radiologic clues, and outcomes. METHODS: This was a retrospective case series and a single-center medical chart review of all patients with CRPM5-seropositive ON at the Department of Neurology, Beijing Tongren Hospital, from December 1, 2020, to March 31, 2023. The main outcome measures were neuro-ophthalmic manifestations, radiologic characteristics, and clinical outcomes of CRMP5-ON; coexisting neural autoantibody, paraneoplastic associations, and the impact of immunosuppressant therapy. RESULTS: Five patients were identified. Four (80%) were female, and the average age at onset was 59.4 years (range 53–69 years), with an average follow-up of 15.3 months (range 1.4–28.7 months). The average best-corrected visual acuity (BCVA) at nadir was 20/120 (range 20/20 to count fingers). Seven of ten affected eyes (70%) showed diffuse defects of the central field. Painless bilateral involvement and optic disk edema occurred in 100% of patients, combined with vitritis, uveitis, or retinitis in four (80%). Four patients (80%) had MRI abnormalities along the optic nerve (one patient with optic nerve enhancement and three patients had optic nerve sheath enhancement or peribulbar fat enhancement). Three patients (60%) had optic neuropathy with other neurologic symptoms. Four patients (80%) had confirmed cancer (two were small-cell lung carcinoma, one was papillary thyroid carcinoma and another was thymoma and invasive pulmonary adenocarcinoma). All cancers were identified after the presentation of the optic neuropathy. The intervention included IVIG, IVMP, surgery and chemotherapy. The average BCVA at the last follow-up was 20/50 (range 20/20 to count fingers). Three patients had surgery during the initial hospitalization, and were stable during the follow-up. Among two patients who received IVMP, both had improvement after treatment, although one patient had worsening non-ocular neurologic symptoms during the steroid taper. CONCLUSION: CRMP5-ON presented with optic disc edema, often bilateral involved and combined with vitreitis, retinitis, or uveitis. CRMP5-ON can present with MRI optic nerve or perineural optic nerve enhancement, especially in the optic nerve sheath. CRMP5-ON is closely related to paraneoplastic neurologic syndrome. Cancer screening and intervention are crucial to prognosis. Frontiers Media S.A. 2023-06-28 /pmc/articles/PMC10337587/ /pubmed/37448746 http://dx.doi.org/10.3389/fneur.2023.1163615 Text en Copyright © 2023 Yan, Mao, Zeng, Liu, Jiang, Peng, Yang, Cui, Liu, Guo and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Yan, Rong
Mao, Yu
Zeng, Huiyang
Liu, Qian
Jiang, Hanqiu
Peng, Jingting
Yang, Qingling
Cui, Shilei
Liu, Lei
Guo, Yanjun
Wang, Jiawei
Collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes
title Collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes
title_full Collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes
title_fullStr Collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes
title_full_unstemmed Collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes
title_short Collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes
title_sort collapsin response mediator protein 5-associated optic neuropathy: clinical characteristics, radiologic clues, and outcomes
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337587/
https://www.ncbi.nlm.nih.gov/pubmed/37448746
http://dx.doi.org/10.3389/fneur.2023.1163615
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