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Staring gaze

MedGen UID:
816157
Concept ID:
C3809827
Finding
Synonym: Staring eyes
 
HPO: HP:0025401

Definition

An abnormality in which the eyes are held permanently wide open. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVStaring gaze

Conditions with this feature

X-linked intellectual disability, Cantagrel type
MedGen UID:
813060
Concept ID:
C3806730
Disease or Syndrome
X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).
Early-onset Parkinson disease 20
MedGen UID:
816154
Concept ID:
C3809824
Disease or Syndrome
Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).
Combined oxidative phosphorylation defect type 8
MedGen UID:
1377817
Concept ID:
C4518839
Disease or Syndrome
Combined oxidative phosphorylation deficiency-8 (COXPD8) is an autosomal recessive disorder caused by dysfunction of the mitochondrial respiratory chain. The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there may also be subtle skeletal muscle and brain involvement. Biochemical studies show combined respiratory chain complex deficiencies in complexes I, III, and IV in cardiac muscle, skeletal muscle, and brain. The liver is not affected (summary by Gotz et al., 2011). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Developmental and epileptic encephalopathy, 57
MedGen UID:
1621769
Concept ID:
C4540411
Disease or Syndrome
Developmental and epileptic encephalopathy-57 (DEE57) is a neurologic disorder characterized by global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language. Affected individuals have onset of refractory multifocal seizures in the first days or months of life, and may show developmental regression. EEG patterns include hypsarrhythmia, suggesting a clinical diagnosis of West syndrome, background slowing, and epilepsy of infancy with migrating focal seizures (EIMFS). Some patients may have mild dysmorphic features (summary by Ambrosino et al., 2018 and Mao et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Recent clinical studies

Etiology

Sugimoto M, Kaneko N, Oyamada M, Tomita A, Sato M
Nurse Educ Pract 2024 Mar;76:103935. Epub 2024 Mar 2 doi: 10.1016/j.nepr.2024.103935. PMID: 38442654
Clin E, Kissine M
J Speech Lang Hear Res 2023 Aug 3;66(8):2562-2580. Epub 2023 Jul 7 doi: 10.1044/2023_JSLHR-23-00002. PMID: 37418752
Ussher JM, Hawkey A, Perz J, Liamputtong P, Sekar J, Marjadi B, Schmied V, Dune T, Brook E
J Interpers Violence 2022 Mar;37(5-6):NP3552-NP3584. Epub 2020 Aug 12 doi: 10.1177/0886260520949149. PMID: 32783523
Paholpak P, Li-Jung L, Carr DR, Jimenez E, Barrows RJ, Sabodash V, Mendez MF
J Alzheimers Dis 2016 May 7;53(1):327-35. doi: 10.3233/JAD-150864. PMID: 27163801
Crehan ET, Althoff RR
Behav Res Methods 2015 Dec;47(4):994-1003. doi: 10.3758/s13428-014-0514-7. PMID: 25413778

Diagnosis

Kulke L, Ertugrul S, Reyentanz E, Thomas V
Dev Sci 2024 May;27(3):e13468. Epub 2023 Dec 22 doi: 10.1111/desc.13468. PMID: 38135924
Lv T, Wu L, Li L, Zhang M, Tan Q, Liu P
BMC Psychiatry 2023 Nov 24;23(1):875. doi: 10.1186/s12888-023-05379-3. PMID: 38001400Free PMC Article
Caputo GB
J Trauma Dissociation 2023 Oct-Dec;24(5):575-608. Epub 2023 Apr 3 doi: 10.1080/15299732.2023.2195394. PMID: 37006162
Crehan ET, Althoff RR
J Psychiatr Res 2021 Aug;140:101-109. Epub 2021 May 27 doi: 10.1016/j.jpsychires.2021.05.050. PMID: 34102517
Goffaux V
PLoS One 2019;14(1):e0210503. Epub 2019 Jan 25 doi: 10.1371/journal.pone.0210503. PMID: 30682035Free PMC Article

Therapy

Lv T, Wu L, Li L, Zhang M, Tan Q, Liu P
BMC Psychiatry 2023 Nov 24;23(1):875. doi: 10.1186/s12888-023-05379-3. PMID: 38001400Free PMC Article
Scott H, Batten JP, Kuhn G
Atten Percept Psychophys 2019 Jan;81(1):109-118. doi: 10.3758/s13414-018-1588-6. PMID: 30353500Free PMC Article
Paholpak P, Li-Jung L, Carr DR, Jimenez E, Barrows RJ, Sabodash V, Mendez MF
J Alzheimers Dis 2016 May 7;53(1):327-35. doi: 10.3233/JAD-150864. PMID: 27163801
Terburg D, Aarts H, van Honk J
Psychol Sci 2012 May 1;23(5):459-63. Epub 2012 Apr 3 doi: 10.1177/0956797611433336. PMID: 22477106
Colwell J, Schröder S, Sladen D
Br J Psychol 2000 Feb;91 ( Pt 1):71-85. doi: 10.1348/000712600161682. PMID: 10717772

Prognosis

Lv T, Wu L, Li L, Zhang M, Tan Q, Liu P
BMC Psychiatry 2023 Nov 24;23(1):875. doi: 10.1186/s12888-023-05379-3. PMID: 38001400Free PMC Article
Wang X, Santos VJ
IEEE Trans Neural Syst Rehabil Eng 2023;31:4306-4317. Epub 2023 Nov 3 doi: 10.1109/TNSRE.2023.3328888. PMID: 37906485
Umemoto S, Hirata Y
Vision Res 2022 Feb;191:107969. Epub 2021 Nov 17 doi: 10.1016/j.visres.2021.107969. PMID: 34800864
Ramamoorthy N, Parker M, Plaisted-Grant K, Muhl-Richardson A, Davis G
Cognition 2021 Feb;207:104519. Epub 2020 Nov 21 doi: 10.1016/j.cognition.2020.104519. PMID: 33228968
Hortensius R, van Honk J, de Gelder B, Terburg D
PLoS One 2014;9(12):e116232. Epub 2014 Dec 30 doi: 10.1371/journal.pone.0116232. PMID: 25549321Free PMC Article

Clinical prediction guides

Wang X, Santos VJ
IEEE Trans Neural Syst Rehabil Eng 2023;31:4306-4317. Epub 2023 Nov 3 doi: 10.1109/TNSRE.2023.3328888. PMID: 37906485
Clin E, Kissine M
J Speech Lang Hear Res 2023 Aug 3;66(8):2562-2580. Epub 2023 Jul 7 doi: 10.1044/2023_JSLHR-23-00002. PMID: 37418752
Ramamoorthy N, Parker M, Plaisted-Grant K, Muhl-Richardson A, Davis G
Cognition 2021 Feb;207:104519. Epub 2020 Nov 21 doi: 10.1016/j.cognition.2020.104519. PMID: 33228968
Colombatto C, Chen YC, Scholl BJ
Proc Natl Acad Sci U S A 2020 Aug 18;117(33):19825-19829. Epub 2020 Aug 5 doi: 10.1073/pnas.2010841117. PMID: 32759213Free PMC Article
Hortensius R, van Honk J, de Gelder B, Terburg D
PLoS One 2014;9(12):e116232. Epub 2014 Dec 30 doi: 10.1371/journal.pone.0116232. PMID: 25549321Free PMC Article

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