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Ocular dyssynergia

MedGen UID:
869256
•Concept ID:
C4023680
•
Disease or Syndrome
HPO: HP:0010868

Definition

A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOcular dyssynergia

Professional guidelines

PubMed

Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.
Rossor T, Yeh EA, Khakoo Y, Angelini P, Hemingway C, Irani SR, Schleiermacher G, Santosh P, Lotze T, Dale RC, Deiva K, Hero B, Klein A, de Alarcon P, Gorman MP, Mitchell WG, Lim M; OMS Study Group
Neurol Neuroimmunol Neuroinflamm 2022 May;9(3) Epub 2022 Mar 8 doi: 10.1212/NXI.0000000000001153. PMID: 35260471Free PMC Article
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Le Roux M, Barth M, Gueden S, Desbordes de Cepoy P, Aeby A, Vilain C, Hirsch E, de Saint Martin A, Portes VD, Lesca G, Riquet A, Chaton L, Villeneuve N, Villard L, Cances C, Valton L, Renaldo F, Vermersch AI, Altuzarra C, Nguyen-Morel MA, Van Gils J, Angelini C, Biraben A, Arnaud L, Riant F, Van Bogaert P
Eur J Paediatr Neurol 2021 Jul;33:75-85. Epub 2021 May 26 doi: 10.1016/j.ejpn.2021.05.010. PMID: 34102571
Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment.
Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755

Recent clinical studies

Etiology

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
Saadi SM, Cali E, Khalid LB, Yousaf H, Zafar G, Khan HN, Sher M, Vona B, Abdullah U, Malik NA, Klar J, Efthymiou S, Dahl N, Houlden H, Toft M, Baig SM, Fatima A, Iqbal Z
Genes (Basel) 2023 Jul 6;14(7) doi: 10.3390/genes14071404. PMID: 37510308Free PMC Article
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA, Cathey SS, Orchard PJ, Lund TC
Cells 2020 Jun 5;9(6) doi: 10.3390/cells9061411. PMID: 32517081Free PMC Article
Cerebellar Dizziness and Vertigo: Etiologies, Diagnostic Assessment, and Treatment.
Zwergal A, Feil K, Schniepp R, Strupp M
Semin Neurol 2020 Feb;40(1):87-96. Epub 2019 Dec 30 doi: 10.1055/s-0039-3400315. PMID: 31887755
Aminoglycoside Vestibulotoxicity.
Rutka J
Adv Otorhinolaryngol 2019;82:101-110. Epub 2019 Jan 15 doi: 10.1159/000490277. PMID: 30947191
Ataxia-telangiectasia.
Gatti RA
Dermatol Clin 1995 Jan;13(1):1-6. PMID: 7712635

Diagnosis

Case series: Downbeat nystagmus in SCA27B.
Shirai S, Mizushima K, Fujiwara K, Koshimizu E, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I
J Neurol Sci 2023 Nov 15;454:120849. Epub 2023 Oct 27 doi: 10.1016/j.jns.2023.120849. PMID: 37907039
Opsoclonus-myoclonus-ataxia syndrome in children.
Bhatia P, Heim J, Cornejo P, Kane L, Santiago J, Kruer MC
J Neurol 2022 Feb;269(2):750-757. Epub 2021 Mar 29 doi: 10.1007/s00415-021-10536-3. PMID: 33779841
Opsoclonus.
Amin OS, Shwani SS
BMJ Case Rep 2017 Feb 15;2017 doi: 10.1136/bcr-2017-219433. PMID: 28202488Free PMC Article
Ataxia-telangiectasia.
Gatti RA
Dermatol Clin 1995 Jan;13(1):1-6. PMID: 7712635
Visuomotor ataxia.
Rondot P, de Recondo J, Dumas JL
Brain 1977 Jun;100(2):355-76. doi: 10.1093/brain/100.2.355. PMID: 884489

Therapy

SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response.
Bland P, Saville H, Wai PT, Curnow L, Muirhead G, Nieminuszczy J, Ravindran N, John MB, Hedayat S, Barker HE, Wright J, Yu L, Mavrommati I, Read A, Peck B, Allen M, Gazinska P, Pemberton HN, Gulati A, Nash S, Noor F, Guppy N, Roxanis I, Pratt G, Oldreive C, Stankovic T, Barlow S, Kalirai H, Coupland SE, Broderick R, Alsafadi S, Houy A, Stern MH, Pettit S, Choudhary JS, Haider S, Niedzwiedz W, Lord CJ, Natrajan R
Nat Genet 2023 Aug;55(8):1311-1323. Epub 2023 Jul 31 doi: 10.1038/s41588-023-01460-5. PMID: 37524790Free PMC Article
Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses.
Levy JM, Yeh WH, Pendse N, Davis JR, Hennessey E, Butcher R, Koblan LW, Comander J, Liu Q, Liu DR
Nat Biomed Eng 2020 Jan;4(1):97-110. Epub 2020 Jan 14 doi: 10.1038/s41551-019-0501-5. PMID: 31937940Free PMC Article
Aminoglycoside Vestibulotoxicity.
Rutka J
Adv Otorhinolaryngol 2019;82:101-110. Epub 2019 Jan 15 doi: 10.1159/000490277. PMID: 30947191
Anti-glutamic acid decarboxylase antibody positive neurological syndromes.
Tohid H
Neurosciences (Riyadh) 2016 Jul;21(3):215-22. doi: 10.17712/nsj.2016.3.20150596. PMID: 27356651Free PMC Article
The retina.
Burdon MA, Sanders MD
Curr Opin Neurol 1996 Feb;9(1):16-20. doi: 10.1097/00019052-199602000-00004. PMID: 8722658

Prognosis

SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response.
Bland P, Saville H, Wai PT, Curnow L, Muirhead G, Nieminuszczy J, Ravindran N, John MB, Hedayat S, Barker HE, Wright J, Yu L, Mavrommati I, Read A, Peck B, Allen M, Gazinska P, Pemberton HN, Gulati A, Nash S, Noor F, Guppy N, Roxanis I, Pratt G, Oldreive C, Stankovic T, Barlow S, Kalirai H, Coupland SE, Broderick R, Alsafadi S, Houy A, Stern MH, Pettit S, Choudhary JS, Haider S, Niedzwiedz W, Lord CJ, Natrajan R
Nat Genet 2023 Aug;55(8):1311-1323. Epub 2023 Jul 31 doi: 10.1038/s41588-023-01460-5. PMID: 37524790Free PMC Article
APOBEC3B coordinates R-loop to promote replication stress and sensitize cancer cells to ATR/Chk1 inhibitors.
Zong C, Zhang Z, Gao L, He J, Wang Y, Li Q, Liu X, Yang J, Chen D, Huang R, Zheng G, Jin X, Wei W, Jia R, Shen J
Cell Death Dis 2023 Jun 3;14(6):348. doi: 10.1038/s41419-023-05867-0. PMID: 37270643Free PMC Article
Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.
Rossor T, Yeh EA, Khakoo Y, Angelini P, Hemingway C, Irani SR, Schleiermacher G, Santosh P, Lotze T, Dale RC, Deiva K, Hero B, Klein A, de Alarcon P, Gorman MP, Mitchell WG, Lim M; OMS Study Group
Neurol Neuroimmunol Neuroinflamm 2022 May;9(3) Epub 2022 Mar 8 doi: 10.1212/NXI.0000000000001153. PMID: 35260471Free PMC Article
Opsoclonus.
Averbuch-Heller L, Remler B
Semin Neurol 1996 Mar;16(1):21-6. doi: 10.1055/s-2008-1040955. PMID: 8879053
Sympathetic ophthalmia.
Dreyer WB Jr, Zegarra H, Zakov ZN, Gutman FA
Am J Ophthalmol 1981 Dec;92(6):816-23. doi: 10.1016/s0002-9394(14)75636-3. PMID: 7315933

Clinical prediction guides

APOBEC3B coordinates R-loop to promote replication stress and sensitize cancer cells to ATR/Chk1 inhibitors.
Zong C, Zhang Z, Gao L, He J, Wang Y, Li Q, Liu X, Yang J, Chen D, Huang R, Zheng G, Jin X, Wei W, Jia R, Shen J
Cell Death Dis 2023 Jun 3;14(6):348. doi: 10.1038/s41419-023-05867-0. PMID: 37270643Free PMC Article
Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Kato T, Tamura Y, Matsumoto H, Kobayashi O, Ishiguro H, Ogawa M, Tsujikawa K, Hasegawa Y, Sakamoto M, Konagaya M, Houzen H, Takagi M, Imai K, Morio T, Yokoseki A, Onodera O, Nonoyama S
Clin Immunol 2021 Aug;229:108776. Epub 2021 Jun 9 doi: 10.1016/j.clim.2021.108776. PMID: 34118401
Ocular manifestations of genetic and development diseases.
Diamond GR
Curr Opin Ophthalmol 1995 Dec;6(6):70-6. doi: 10.1097/00055735-199512000-00012. PMID: 10160422
Sympathetic ophthalmia.
Dreyer WB Jr, Zegarra H, Zakov ZN, Gutman FA
Am J Ophthalmol 1981 Dec;92(6):816-23. doi: 10.1016/s0002-9394(14)75636-3. PMID: 7315933
Visuomotor ataxia.
Rondot P, de Recondo J, Dumas JL
Brain 1977 Jun;100(2):355-76. doi: 10.1093/brain/100.2.355. PMID: 884489

Recent systematic reviews

The Guillain-Mollaret triangle: a key player in motor coordination and control with implications for neurological disorders.
Ogut E, Armagan K, Tufekci D
Neurosurg Rev 2023 Jul 20;46(1):181. doi: 10.1007/s10143-023-02086-1. PMID: 37468768
When time is brain: a systematic review about Wernicke encephalopathy as a dramatic consequence of thiamin deficiency in hyperemesis gravidarum.
Fiorentini M, Nedu B, Dapoto F, Brunelli E, Pilu G, Youssef A
J Matern Fetal Neonatal Med 2023 Dec;36(2):2223678. doi: 10.1080/14767058.2023.2223678. PMID: 37322816
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
Bayram N, Kaçar Bayram A, Daimagüler HS, Dafsari HS, Bamborschke D, Uyanik G, Erdogan M, Özsaygılı C, Pangal E, Yuvaci İ, Doğanay S, Gümüş H, Per H, Jungbluth H, Çırak S
Eur J Ophthalmol 2022 May;32(3):NP92-NP97. Epub 2021 Jun 2 doi: 10.1177/11206721211021291. PMID: 34075802
Preventing Wernicke's encephalopathy in anorexia nervosa: A systematic review.
Oudman E, Wijnia JW, Oey MJ, van Dam MJ, Postma A
Psychiatry Clin Neurosci 2018 Oct;72(10):774-779. Epub 2018 Jul 31 doi: 10.1111/pcn.12735. PMID: 29984541
Wernicke-Korsakoff syndrome in patients with cancer: a systematic review.
Isenberg-Grzeda E, Rahane S, DeRosa AP, Ellis J, Nicolson SE
Lancet Oncol 2016 Apr;17(4):e142-e148. Epub 2016 Mar 29 doi: 10.1016/S1470-2045(16)00037-1. PMID: 27300674

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