U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Susac syndrome

MedGen UID:
439270
•Concept ID:
C2717757
•
Disease or Syndrome
Synonyms: Retinocochleocerebral vasculopathy; SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome
SNOMED CT: Susac syndrome (702575003); Retinocochleocerebral vasculopathy (702575003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019390
Orphanet: ORPHA838

Definition

An arteriopathy characterised by visual loss, progressive or episodic deafness, and abnormal fundoscopy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSusac syndrome
Follow this link to review classifications for Susac syndrome in Orphanet.

Professional guidelines

PubMed

Susac syndrome: challenges in the diagnosis and treatment.
Marrodan M, Fiol MP, Correale J
Brain 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476. PMID: 35136969
Guidelines for treatment of Susac syndrome - An update.
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E
Int J Stroke 2020 Jul;15(5):484-494. Epub 2018 Jan 10 doi: 10.1177/1747493017751737. PMID: 29319463
Diagnostic criteria for Susac syndrome.
Kleffner I, Dörr J, Ringelstein M, Gross CC, Böckenfeld Y, Schwindt W, Sundermann B, Lohmann H, Wersching H, Promesberger J, von Königsmarck N, Alex A, Guthoff R, Frijns CJ, Kappelle LJ, Jarius S, Wildemann B, Aktas O, Paul F, Wiendl H, Duning T; European Susac Consortium (EuSaC)
J Neurol Neurosurg Psychiatry 2016 Dec;87(12):1287-1295. Epub 2016 Oct 25 doi: 10.1136/jnnp-2016-314295. PMID: 28103199

Recent clinical studies

Etiology

Susac syndrome: challenges in the diagnosis and treatment.
Marrodan M, Fiol MP, Correale J
Brain 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476. PMID: 35136969
Heritable and non-heritable uncommon causes of stroke.
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS
J Neurol 2021 Aug;268(8):2780-2807. Epub 2020 Apr 21 doi: 10.1007/s00415-020-09836-x. PMID: 32318851
Guidelines for treatment of Susac syndrome - An update.
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E
Int J Stroke 2020 Jul;15(5):484-494. Epub 2018 Jan 10 doi: 10.1177/1747493017751737. PMID: 29319463
Immune-mediated disorders.
Höftberger R, Lassmann H
Handb Clin Neurol 2017;145:285-299. doi: 10.1016/B978-0-12-802395-2.00020-1. PMID: 28987176
Diagnostic criteria for Susac syndrome.
Kleffner I, Dörr J, Ringelstein M, Gross CC, Böckenfeld Y, Schwindt W, Sundermann B, Lohmann H, Wersching H, Promesberger J, von Königsmarck N, Alex A, Guthoff R, Frijns CJ, Kappelle LJ, Jarius S, Wildemann B, Aktas O, Paul F, Wiendl H, Duning T; European Susac Consortium (EuSaC)
J Neurol Neurosurg Psychiatry 2016 Dec;87(12):1287-1295. Epub 2016 Oct 25 doi: 10.1136/jnnp-2016-314295. PMID: 28103199

Diagnosis

Susac syndrome: A scoping review.
David C, Sacré K, Henri-Feugeas MC, Klein I, Doan S, Cohen FA, Jouvent E, Papo T
Autoimmun Rev 2022 Jun;21(6):103097. Epub 2022 Apr 10 doi: 10.1016/j.autrev.2022.103097. PMID: 35413469
Susac syndrome: challenges in the diagnosis and treatment.
Marrodan M, Fiol MP, Correale J
Brain 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476. PMID: 35136969
Heritable and non-heritable uncommon causes of stroke.
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS
J Neurol 2021 Aug;268(8):2780-2807. Epub 2020 Apr 21 doi: 10.1007/s00415-020-09836-x. PMID: 32318851
Assessment of lesions on magnetic resonance imaging in multiple sclerosis: practical guidelines.
Filippi M, Preziosa P, Banwell BL, Barkhof F, Ciccarelli O, De Stefano N, Geurts JJG, Paul F, Reich DS, Toosy AT, Traboulsee A, Wattjes MP, Yousry TA, Gass A, Lubetzki C, Weinshenker BG, Rocca MA
Brain 2019 Jul 1;142(7):1858-1875. doi: 10.1093/brain/awz144. PMID: 31209474Free PMC Article
Diagnostic criteria for Susac syndrome.
Kleffner I, Dörr J, Ringelstein M, Gross CC, Böckenfeld Y, Schwindt W, Sundermann B, Lohmann H, Wersching H, Promesberger J, von Königsmarck N, Alex A, Guthoff R, Frijns CJ, Kappelle LJ, Jarius S, Wildemann B, Aktas O, Paul F, Wiendl H, Duning T; European Susac Consortium (EuSaC)
J Neurol Neurosurg Psychiatry 2016 Dec;87(12):1287-1295. Epub 2016 Oct 25 doi: 10.1136/jnnp-2016-314295. PMID: 28103199

Therapy

Headache in Susac's Syndrome.
Dawe JA, Green AL
Curr Pain Headache Rep 2021 Mar 18;25(4):25. doi: 10.1007/s11916-021-00939-2. PMID: 33738651
Guidelines for treatment of Susac syndrome - An update.
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E
Int J Stroke 2020 Jul;15(5):484-494. Epub 2018 Jan 10 doi: 10.1177/1747493017751737. PMID: 29319463
A review and update on the ophthalmic implications of Susac syndrome.
Heng LZ, Bailey C, Lee R, Dick A, Ross A
Surv Ophthalmol 2019 Jul-Aug;64(4):477-485. Epub 2019 Jan 29 doi: 10.1016/j.survophthal.2019.01.007. PMID: 30703404
Diagnostic Criteria and Treatment Algorithm for Susac Syndrome.
Egan RA
J Neuroophthalmol 2019 Mar;39(1):60-67. doi: 10.1097/WNO.0000000000000677. PMID: 29933288
Susac's Syndrome--update.
Rennebohm R, Susac JO, Egan RA, Daroff RB
J Neurol Sci 2010 Dec 15;299(1-2):86-91. Epub 2010 Sep 19 doi: 10.1016/j.jns.2010.08.032. PMID: 20855088

Prognosis

Susac syndrome: challenges in the diagnosis and treatment.
Marrodan M, Fiol MP, Correale J
Brain 2022 Apr 29;145(3):858-871. doi: 10.1093/brain/awab476. PMID: 35136969
CNS vasculopathies: Challenging mimickers of primary angiitis of the central nervous system.
Cho TA, Jones A
Best Pract Res Clin Rheumatol 2020 Aug;34(4):101569. Epub 2020 Aug 25 doi: 10.1016/j.berh.2020.101569. PMID: 32859518
Guidelines for treatment of Susac syndrome - An update.
Rennebohm RM, Asdaghi N, Srivastava S, Gertner E
Int J Stroke 2020 Jul;15(5):484-494. Epub 2018 Jan 10 doi: 10.1177/1747493017751737. PMID: 29319463
Susac syndrome.
Gross M, Banin E, Eliashar R, Ben-Hur T
Otol Neurotol 2004 Jul;25(4):470-3. doi: 10.1097/00129492-200407000-00012. PMID: 15241223
Susac syndrome.
Papo T, Biousse V, Lehoang P, Fardeau C, N'Guyen N, Huong DL, Aumaitre O, Bousser MG, Godeau P, Piette JC
Medicine (Baltimore) 1998 Jan;77(1):3-11. doi: 10.1097/00005792-199801000-00002. PMID: 9465860

Clinical prediction guides

Susac Syndrome: A Case Series.
Hoogewoud F, Kawasaki A, Borruat FX, Guex-Crosier Y
Klin Monbl Augenheilkd 2022 Apr;239(4):518-522. Epub 2022 Apr 26 doi: 10.1055/a-1766-6243. PMID: 35472796
Cognitive dysfunction and brain atrophy in Susac syndrome.
Machado S, Jouvent E, Klein I, De Guio F, Machado C, Cohen-Aubart F, Sacré K, Papo T
J Neurol 2020 Apr;267(4):994-1003. Epub 2019 Dec 11 doi: 10.1007/s00415-019-09664-8. PMID: 31828475
Susac's syndrome: clinical course and epidemiology in a Central European population.
Seifert-Held T, Langner-Wegscheider BJ, Komposch M, Simschitz P, Franta C, Teuchner B, Offenbacher H, Otto F, Sellner J, Rauschka H, Fazekas F
Int J Neurosci 2017 Sep;127(9):776-780. Epub 2016 Nov 11 doi: 10.1080/00207454.2016.1254631. PMID: 27788613
Susac syndrome: clinical characteristics, clinical classification, and long-term prognosis.
Vishnevskia-Dai V, Chapman J, Sheinfeld R, Sharon T, Huna-Baron R, Manor RS, Shoenfeld Y, Zloto O
Medicine (Baltimore) 2016 Oct;95(43):e5223. doi: 10.1097/MD.0000000000005223. PMID: 27787385Free PMC Article
SUSAC SYNDROME.
Patel KH, Haug SJ, Imes RK, Cunningham ET Jr, McDonald HR
Retin Cases Brief Rep 2015 Fall;9(4):363-6. doi: 10.1097/ICB.0000000000000209. PMID: 26352322

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...