Congenital oculomotor nerve palsy

MedGen UID:: 1804232
•Concept ID:: C5680054
•: Disease or Syndrome

Synonyms:	Congenital CNIII lesion; congenital CNIII lesion; congenital oculomotor nerve palsy; Congenital third cranial nerve palsy; congenital third cranial nerve palsy
SNOMED CT:	Congenital third cranial nerve palsy (1217207008); Congenital oculomotor nerve palsy (1217207008)
Modes of inheritance:	Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0018599
Orphanet:	ORPHA440221

Definition

A rare ophthalmic disorder with cranial nerve involvement and characteristics of partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital oculomotor nerve palsy

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system physiology
    - Abnormal cranial nerve physiology
      - Cranial nerve paralysis
        Oculomotor nerve palsy
        Congenital oculomotor nerve palsy

Professional guidelines

PubMed

Moebius syndrome: clinical features, diagnosis, management and early intervention.

Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F, Bedeschi MF
Ital J Pediatr 2016 Jun 3;42(1):56. doi: 10.1186/s13052-016-0256-5. PMID: 27260152 Free PMC Article

ANOMALOUS HEAD POSTURES IN STRABISMUS AND NYSTAGMUS DIAGNOSIS AND MANAGEMENT.

Teodorescu L
Rom J Ophthalmol 2015 Jul-Sep;59(3):137-40. PMID: 26978880 Free PMC Article

Treatment and diagnosis of congenital fourth nerve palsies: an update.

Engel JM
Curr Opin Ophthalmol 2015 Jul;26(5):353-6. doi: 10.1097/ICU.0000000000000179. PMID: 26247132

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Recent clinical studies

Etiology

A modified technique for attaching the lateral rectus muscle to the orbital periosteum through a skin incision over the lateral orbital rim.

Nagasubramanian V, Rajamani M, Dandapani R
J AAPOS 2019 Jun;23(3):141.e1-141.e4. Epub 2019 May 16 doi: 10.1016/j.jaapos.2019.01.015. PMID: 31103564

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Kim JH, Hwang JM
Korean J Ophthalmol 2017 Jun;31(3):183-193. Epub 2017 May 12 doi: 10.3341/kjo.2017.0024. PMID: 28534340 Free PMC Article

See all (2)

Diagnosis

Magnetic Resonance Imaging in 14 Patients with Congenital Oculomotor Nerve Palsy.

Yang HK, Kim JH, Hwang JM
Clin Neuroradiol 2020 Jun;30(2):237-242. Epub 2019 Apr 17 doi: 10.1007/s00062-019-00781-5. PMID: 30997520

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Kim JH, Hwang JM
Korean J Ophthalmol 2017 Jun;31(3):183-193. Epub 2017 May 12 doi: 10.3341/kjo.2017.0024. PMID: 28534340 Free PMC Article

Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome.

Biler ED, Uretmen O
J Pediatr Ophthalmol Strabismus 2016 Dec 8;53:e72-e74. doi: 10.3928/01913913-20161102-03. PMID: 27977032

Congenital oculomotor nerve palsy due to effects of carotid artery agenesis.

Cherungottil L, Shetty S, Vijayalakshmi P, Dwivedi MK, Srinivasan KG, Saravanan M
J AAPOS 2014 Oct;18(5):507-9. Epub 2014 Oct 21 doi: 10.1016/j.jaapos.2014.06.014. PMID: 25439306

Associated neurologic and ophthalmologic findings in congenital oculomotor nerve palsy.

Hamed LM
Ophthalmology 1991 May;98(5):708-14. doi: 10.1016/s0161-6420(91)32230-9. PMID: 2062505

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