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Abnormal pupillary function

MedGen UID:
214629
•Concept ID:
C0917967
•
Finding; Finding
Synonym: Abnormal pupillary function (disease)
SNOMED CT: Abnormal pupillary function (72124005); Pupillary function anomaly (72124005); Pupil function abnormality (72124005)
 
HPO: HP:0007686
Monarch Initiative: MONDO:0001303

Definition

A functional abnormality of the pupil. [from HPO]

Conditions with this feature

Ophthalmoplegia, external, and myopia
MedGen UID:
326916
•Concept ID:
C1839577
•
Disease or Syndrome
See: Condition Record
Ophthalmoplegia, external, and myopia

Professional guidelines

PubMed

Dysthyroid optic neuropathy: evaluation and management.
Dolman PJ
J Endocrinol Invest 2021 Mar;44(3):421-429. Epub 2020 Jul 29 doi: 10.1007/s40618-020-01361-y. PMID: 32729049
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J
Hum Mutat 2020 Jan;41(1):17-37. Epub 2019 Sep 15 doi: 10.1002/humu.23899. PMID: 31448844
Stroke syndromes and clinical management.
Balami JS, Chen RL, Buchan AM
QJM 2013 Jul;106(7):607-15. Epub 2013 Mar 12 doi: 10.1093/qjmed/hct057. PMID: 23483140

Recent clinical studies

Etiology

Outcome Prognostication of Acute Brain Injury using the Neurological Pupil Index (ORANGE) study: protocol for a prospective, observational, multicentre, international cohort study.
Oddo M, Taccone F, Galimberti S, Rebora P, Citerio G; Orange Study Group
BMJ Open 2021 May 11;11(5):e046948. doi: 10.1136/bmjopen-2020-046948. PMID: 33980528Free PMC Article
Automated Pupillometry Identifies Absence of Intracranial Pressure Elevation in Intracerebral Hemorrhage Patients.
Giede-Jeppe A, Sprügel MI, Huttner HB, Borutta M, Kuramatsu JB, Hoelter P, Engelhorn T, Schwab S, Koehn J
Neurocrit Care 2021 Aug;35(1):210-220. Epub 2020 Dec 24 doi: 10.1007/s12028-020-01146-4. PMID: 33367973Free PMC Article
Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients.
Boulanger-Scemama E, Fardeau C, Straus C, Simon C, Touitou V, Touhami S, Amini M, Similowski T, LeHoang P
Ophthalmic Genet 2014 Dec;35(4):229-34. Epub 2014 Aug 12 doi: 10.3109/13816810.2014.946056. PMID: 25113442
Autonomic dysfunction in non-paraneoplastic sensory neuronopathy: beyond sensory abnormalities.
Damasceno A, França MC Jr, Cury H, Nucci A
J Neurol 2011 Feb;258(2):231-7. Epub 2010 Sep 5 doi: 10.1007/s00415-010-5730-1. PMID: 20820798
Cholinergic deficiency in Alzheimer's and Parkinson's disease: evaluation with pupillometry.
Fotiou DF, Stergiou V, Tsiptsios D, Lithari C, Nakou M, Karlovasitou A
Int J Psychophysiol 2009 Aug;73(2):143-9. Epub 2009 May 3 doi: 10.1016/j.ijpsycho.2009.01.011. PMID: 19414041

Diagnosis

Outcome Prognostication of Acute Brain Injury using the Neurological Pupil Index (ORANGE) study: protocol for a prospective, observational, multicentre, international cohort study.
Oddo M, Taccone F, Galimberti S, Rebora P, Citerio G; Orange Study Group
BMJ Open 2021 May 11;11(5):e046948. doi: 10.1136/bmjopen-2020-046948. PMID: 33980528Free PMC Article
Automated Pupillometry Identifies Absence of Intracranial Pressure Elevation in Intracerebral Hemorrhage Patients.
Giede-Jeppe A, Sprügel MI, Huttner HB, Borutta M, Kuramatsu JB, Hoelter P, Engelhorn T, Schwab S, Koehn J
Neurocrit Care 2021 Aug;35(1):210-220. Epub 2020 Dec 24 doi: 10.1007/s12028-020-01146-4. PMID: 33367973Free PMC Article
Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients.
Boulanger-Scemama E, Fardeau C, Straus C, Simon C, Touitou V, Touhami S, Amini M, Similowski T, LeHoang P
Ophthalmic Genet 2014 Dec;35(4):229-34. Epub 2014 Aug 12 doi: 10.3109/13816810.2014.946056. PMID: 25113442
Cholinergic deficiency in Alzheimer's and Parkinson's disease: evaluation with pupillometry.
Fotiou DF, Stergiou V, Tsiptsios D, Lithari C, Nakou M, Karlovasitou A
Int J Psychophysiol 2009 Aug;73(2):143-9. Epub 2009 May 3 doi: 10.1016/j.ijpsycho.2009.01.011. PMID: 19414041
Pupil reaction to light in Alzheimer's disease: evaluation of pupil size changes and mobility.
Fotiou DF, Brozou CG, Haidich AB, Tsiptsios D, Nakou M, Kabitsi A, Giantselidis C, Fotiou F
Aging Clin Exp Res 2007 Oct;19(5):364-71. doi: 10.1007/BF03324716. PMID: 18007114

Prognosis

Outcome Prognostication of Acute Brain Injury using the Neurological Pupil Index (ORANGE) study: protocol for a prospective, observational, multicentre, international cohort study.
Oddo M, Taccone F, Galimberti S, Rebora P, Citerio G; Orange Study Group
BMJ Open 2021 May 11;11(5):e046948. doi: 10.1136/bmjopen-2020-046948. PMID: 33980528Free PMC Article
Automated Pupillometry Identifies Absence of Intracranial Pressure Elevation in Intracerebral Hemorrhage Patients.
Giede-Jeppe A, Sprügel MI, Huttner HB, Borutta M, Kuramatsu JB, Hoelter P, Engelhorn T, Schwab S, Koehn J
Neurocrit Care 2021 Aug;35(1):210-220. Epub 2020 Dec 24 doi: 10.1007/s12028-020-01146-4. PMID: 33367973Free PMC Article
Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients.
Boulanger-Scemama E, Fardeau C, Straus C, Simon C, Touitou V, Touhami S, Amini M, Similowski T, LeHoang P
Ophthalmic Genet 2014 Dec;35(4):229-34. Epub 2014 Aug 12 doi: 10.3109/13816810.2014.946056. PMID: 25113442
Cholinergic deficiency in Alzheimer's and Parkinson's disease: evaluation with pupillometry.
Fotiou DF, Stergiou V, Tsiptsios D, Lithari C, Nakou M, Karlovasitou A
Int J Psychophysiol 2009 Aug;73(2):143-9. Epub 2009 May 3 doi: 10.1016/j.ijpsycho.2009.01.011. PMID: 19414041
Pupil reaction to light in Alzheimer's disease: evaluation of pupil size changes and mobility.
Fotiou DF, Brozou CG, Haidich AB, Tsiptsios D, Nakou M, Kabitsi A, Giantselidis C, Fotiou F
Aging Clin Exp Res 2007 Oct;19(5):364-71. doi: 10.1007/BF03324716. PMID: 18007114

Clinical prediction guides

Outcome Prognostication of Acute Brain Injury using the Neurological Pupil Index (ORANGE) study: protocol for a prospective, observational, multicentre, international cohort study.
Oddo M, Taccone F, Galimberti S, Rebora P, Citerio G; Orange Study Group
BMJ Open 2021 May 11;11(5):e046948. doi: 10.1136/bmjopen-2020-046948. PMID: 33980528Free PMC Article
Automated Pupillometry Identifies Absence of Intracranial Pressure Elevation in Intracerebral Hemorrhage Patients.
Giede-Jeppe A, Sprügel MI, Huttner HB, Borutta M, Kuramatsu JB, Hoelter P, Engelhorn T, Schwab S, Koehn J
Neurocrit Care 2021 Aug;35(1):210-220. Epub 2020 Dec 24 doi: 10.1007/s12028-020-01146-4. PMID: 33367973Free PMC Article
Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients.
Boulanger-Scemama E, Fardeau C, Straus C, Simon C, Touitou V, Touhami S, Amini M, Similowski T, LeHoang P
Ophthalmic Genet 2014 Dec;35(4):229-34. Epub 2014 Aug 12 doi: 10.3109/13816810.2014.946056. PMID: 25113442
Autonomic dysfunction in non-paraneoplastic sensory neuronopathy: beyond sensory abnormalities.
Damasceno A, França MC Jr, Cury H, Nucci A
J Neurol 2011 Feb;258(2):231-7. Epub 2010 Sep 5 doi: 10.1007/s00415-010-5730-1. PMID: 20820798
Cholinergic deficiency in Alzheimer's and Parkinson's disease: evaluation with pupillometry.
Fotiou DF, Stergiou V, Tsiptsios D, Lithari C, Nakou M, Karlovasitou A
Int J Psychophysiol 2009 Aug;73(2):143-9. Epub 2009 May 3 doi: 10.1016/j.ijpsycho.2009.01.011. PMID: 19414041

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