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Abnormal doll eye reflex

MedGen UID:
1705434
•Concept ID:
C5139131
•
Finding
Synonym: Abnormal doll's eye reflex
 
HPO: HP:0032100

Definition

The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal doll eye reflex

Recent clinical studies

Etiology

Abnormal Vestibular-Ocular Reflexes in Children With Cortical Visual Impairment.
Mansukhani SA, Ho ML, Brodsky MC
J Neuroophthalmol 2021 Dec 1;41(4):531-536. doi: 10.1097/WNO.0000000000000999. PMID: 32672437
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M
Hum Genet 2018 Feb;137(2):111-127. Epub 2018 Jan 5 doi: 10.1007/s00439-017-1862-z. PMID: 29305691

Diagnosis

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M
Hum Genet 2018 Feb;137(2):111-127. Epub 2018 Jan 5 doi: 10.1007/s00439-017-1862-z. PMID: 29305691
Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign.
Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD
Brain 2004 Feb;127(Pt 2):280-93. Epub 2003 Nov 7 doi: 10.1093/brain/awh030. PMID: 14607788
Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.
Tsai LP, Sue WC, Hwu WL, Lin KH, Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996 Jan-Feb;37(1):52-5. PMID: 8936012

Therapy

Abnormal downward gaze and cold caloric examination due to propofol: a case study.
Vu TA, O'Meara A, Teasley J
Pediatr Neurol 2014 Sep;51(3):437-8. Epub 2014 Apr 5 doi: 10.1016/j.pediatrneurol.2014.03.028. PMID: 25011432

Prognosis

Clinical features of Nipah virus encephalitis among pig farmers in Malaysia.
Goh KJ, Tan CT, Chew NK, Tan PS, Kamarulzaman A, Sarji SA, Wong KT, Abdullah BJ, Chua KB, Lam SK
N Engl J Med 2000 Apr 27;342(17):1229-35. doi: 10.1056/NEJM200004273421701. PMID: 10781618

Clinical prediction guides

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M
Hum Genet 2018 Feb;137(2):111-127. Epub 2018 Jan 5 doi: 10.1007/s00439-017-1862-z. PMID: 29305691

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