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Oculomotor synkinesis

MedGen UID:
1783919
Concept ID:
C5539846
Finding
HPO: HP:0033851

Definition

Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculomotor synkinesis

Conditions with this feature

Oculomotor-abducens synkinesis
MedGen UID:
1789067
Concept ID:
C5543116
Disease or Syndrome
Oculomotor-abducens synkinesis (OCABSN) is an autosomal recessive disorder characterized by a specific anomaly of extraocular muscle movements involving the oculomotor nerve (cranial nerve III) and the abducens nerve (cranial nerve VI). The superior branch of CN3 innervates the levator palpebrae superioris muscle, which raises the eyelid, and CN6 innervates the lateral rectus muscle, which controls lateral eye movement. Affected individuals show ptosis as well as elevation of the eyelid on ipsilateral abduction. The features indicate abnormal innervation of these muscles and suggest synkinesis of the oculomotor and abducens nerves. The disorder can be classified as a congenital cranial dysinnervation disorder (CCDD), and also shows features of congenital fibrosis of the extraocular muscles (CFEOM; see 135700) (summary by Khan et al., 2004 and Whitman et al., 2019). See also oculomotor-levator synkinesis (OCLEVS; 151610), a similar disorder.

Professional guidelines

PubMed

Chundury RV, D'Angelo AS, Couch SM, Holds JB
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):133-7. doi: 10.1097/IOP.0000000000000443. PMID: 25811161
Demirci H, Frueh BR, Nelson CC
Ophthalmology 2010 Jul;117(7):1447-52. Epub 2010 Feb 25 doi: 10.1016/j.ophtha.2009.11.014. PMID: 20188419
Roggenkämper P, Laskawi R, Damenz W, Schröder M, Nüssgens Z
Doc Ophthalmol 1994;86(4):395-402. doi: 10.1007/BF01204598. PMID: 7835177

Recent clinical studies

Etiology

Weber ED, Newman SA
Neurosurg Focus 2007;23(5):E14. doi: 10.3171/FOC-07/11/E14. PMID: 18004962
Pavone P, Garozzo R, Trifiletti RR, Parano E
J Child Neurol 1999 Apr;14(4):266-8. doi: 10.1177/088307389901400411. PMID: 10334404

Diagnosis

Rateaux M, Touze R, Bremond-Gignac D
Clin Exp Optom 2023 Jul;106(5):564-565. Epub 2022 Dec 5 doi: 10.1080/08164622.2022.2153585. PMID: 36469953
Condos A, Sullivan MA, Hawley D, Cho A, Cathey M
Curr Probl Diagn Radiol 2022 Mar-Apr;51(2):217-224. Epub 2021 Jan 9 doi: 10.1067/j.cpradiol.2020.12.006. PMID: 33495031
Lalwani S, Kekunnaya R, Sheth J
BMJ Case Rep 2021 May 13;14(5) doi: 10.1136/bcr-2020-239819. PMID: 33986004Free PMC Article
Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan WM, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC
Hum Mol Genet 2019 Sep 15;28(18):3113-3125. doi: 10.1093/hmg/ddz137. PMID: 31211835Free PMC Article
Bursztyn LL, Makar I
J Neuroophthalmol 2014 Mar;34(1):64-6. doi: 10.1097/WNO.0000000000000091. PMID: 24413161

Prognosis

Lalwani S, Kekunnaya R, Sheth J
BMJ Case Rep 2021 May 13;14(5) doi: 10.1136/bcr-2020-239819. PMID: 33986004Free PMC Article
Weber ED, Newman SA
Neurosurg Focus 2007;23(5):E14. doi: 10.3171/FOC-07/11/E14. PMID: 18004962

Clinical prediction guides

Roper-Hall G
Am Orthopt J 2015;65:121-7. doi: 10.3368/aoj.65.1.121. PMID: 26564938
Messé SR, Shin RK, Liu GT, Galetta SL, Volpe NJ
Neurology 2001 Sep 25;57(6):1106-7. doi: 10.1212/wnl.57.6.1106. PMID: 11571345
Pang MP, Zweifach PH, Goodwin J
Arch Ophthalmol 1986 Oct;104(10):1489-91. doi: 10.1001/archopht.1986.01050220083032. PMID: 3767680
Safran AB, Roth A, Berney J
Am J Ophthalmol 1984 Dec 15;98(6):747-50. doi: 10.1016/0002-9394(84)90692-5. PMID: 6507548
Lepore FE, Glaser JS
Arch Ophthalmol 1980 Dec;98(12):2206-9. doi: 10.1001/archopht.1980.01020041058012. PMID: 7447776

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