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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
Altered pupillary light responses are associated with the severity of autonomic symptoms in patients with Fabry disease.
Bitirgen G, Turkmen K, Zengin N, Malik RA
Sci Rep 2021 Apr 14;11(1):8146. doi: 10.1038/s41598-021-87589-x. PMID: 33854145Free 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

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