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Abnormal saccadic eye movements

MedGen UID:
66709
Concept ID:
C0234649
Anatomical Abnormality
Synonym: Abnormality of saccadic eye movements
SNOMED CT: Ocular dysmetria (79161002); Dysmetric ataxia (246767003); Abnormal saccadic eye movement (246767003)
 
HPO: HP:0000570

Definition

An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. [from HPO]

Conditions with this feature

Joubert syndrome 2
MedGen UID:
334114
Concept ID:
C1842577
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Joubert syndrome 1
MedGen UID:
1644883
Concept ID:
C4551568
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Professional guidelines

PubMed

Ward LM, Kapoula Z
Sci Rep 2020 Dec 17;10(1):22116. doi: 10.1038/s41598-020-79089-1. PMID: 33335200Free PMC Article
Rivaud-Pechoux S, Dürr A, Gaymard B, Cancel G, Ploner CJ, Agid Y, Brice A, Pierrot-Deseilligny C
Ann Neurol 1998 Mar;43(3):297-302. doi: 10.1002/ana.410430306. PMID: 9506545
Leigh RJ, Averbuch-Heller L, Tomsak RL, Remler BF, Yaniglos SS, Dell'Osso LF
Ann Neurol 1994 Aug;36(2):129-41. doi: 10.1002/ana.410360204. PMID: 8053648

Recent clinical studies

Etiology

Kemner C, Verbaten MN, Cuperus JM, Camfferman G, van Engeland H
J Autism Dev Disord 1998 Feb;28(1):61-7. doi: 10.1023/a:1026015120128. PMID: 9546303
Massman PJ, Kreiter KT, Jankovic J, Doody RS
Neurology 1996 Mar;46(3):720-6. doi: 10.1212/wnl.46.3.720. PMID: 8618672
Schwartz BD, O'Brien BA, Evans WJ, McDermott BE, Sautter FJ Jr, Winstead DK
Biol Psychiatry 1995 Oct 1;38(7):487-91. doi: 10.1016/0006-3223(95)00193-k. PMID: 8672611

Diagnosis

Pensiero S, Fabbro F, Michieletto P, Accardo A, Brambilla P
Funct Neurol 2009 Jul-Sep;24(3):153-8. PMID: 20018143
Moulick A, Sengupta P, Banerjee S, Basu D
J Assoc Physicians India 2008 Apr;56:259-61. PMID: 18702390
Kemner C, Verbaten MN, Cuperus JM, Camfferman G, van Engeland H
J Autism Dev Disord 1998 Feb;28(1):61-7. doi: 10.1023/a:1026015120128. PMID: 9546303
Massman PJ, Kreiter KT, Jankovic J, Doody RS
Neurology 1996 Mar;46(3):720-6. doi: 10.1212/wnl.46.3.720. PMID: 8618672

Clinical prediction guides

Pensiero S, Fabbro F, Michieletto P, Accardo A, Brambilla P
Funct Neurol 2009 Jul-Sep;24(3):153-8. PMID: 20018143

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