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Holmes-Adie syndrome

MedGen UID:
138
•Concept ID:
C0001519
•
Disease or Syndrome
Synonyms: Adie syndrome; Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes
SNOMED CT: Holmes-Adie syndrome (24225004); Adie's pupil syndrome (24225004); Adie's syndrome (24225004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018690
OMIM®: 103100
Orphanet: ORPHA454718

Definition

Adie pupil is a pupillary dysfunction characterized by a poor pupillary light reaction, reduced accommodation, sector palsies of the iris, and enhanced pupillary response to near effort (i.e., attempting to focus on a near object) (summary by Triggs et al., 2006). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHolmes-Adie syndrome

Recent clinical studies

Etiology

Progression of cardiovascular autonomic dysfunction in Holmes-Adie syndrome.
Guaraldi P, Mathias CJ
J Neurol Neurosurg Psychiatry 2011 Sep;82(9):1046-9. Epub 2010 Jun 18 doi: 10.1136/jnnp.2009.195917. PMID: 20562402
Pupillographic findings in 39 consecutive cases of harlequin syndrome.
Bremner F, Smith S
J Neuroophthalmol 2008 Sep;28(3):171-7. doi: 10.1097/WNO.0b013e318183c885. PMID: 18769278
Bilateral tonic pupils: Holmes Adie syndrome or generalised neuropathy?
Bremner FD, Smith SE
Br J Ophthalmol 2007 Dec;91(12):1620-3. Epub 2007 Jun 21 doi: 10.1136/bjo.2007.118968. PMID: 17584996Free PMC Article
Autonomic function in Holmes Adie syndrome.
Hope-Ross M, Buchanan TA, Archer DB, Allen JA
Eye (Lond) 1990;4 ( Pt 4):607-12. doi: 10.1038/eye.1990.85. PMID: 2226992
On the cause of hyporeflexia in the Holmes-Adie syndrome.
Miyasaki JM, Ashby P, Sharpe JA, Fletcher WA
Neurology 1988 Feb;38(2):262-5. doi: 10.1212/wnl.38.2.262. PMID: 3340290

Diagnosis

Harlequin syndrome in a pediatric population: a case series.
Beullens N, Tourlamain G, Vallaeys L, Roelens F, D'Hooghe M
Acta Neurol Belg 2021 Jun;121(3):625-631. Epub 2021 Jan 30 doi: 10.1007/s13760-021-01593-6. PMID: 33515404
Holmes-Adie syndrome associated with high altitude pulmonary edema and low chemo-responsiveness to hypoxia.
Richalet JP, Letournel M, Salama J
Clin Auton Res 2011 Feb;21(1):55-6. Epub 2010 Sep 16 doi: 10.1007/s10286-010-0081-7. PMID: 20845057
Bilateral tonic pupils: Holmes Adie syndrome or generalised neuropathy?
Bremner FD, Smith SE
Br J Ophthalmol 2007 Dec;91(12):1620-3. Epub 2007 Jun 21 doi: 10.1136/bjo.2007.118968. PMID: 17584996Free PMC Article
The Holmes-Adie plus syndrome.
Mak W, Cheung RT
J Clin Neurosci 2000 Sep;7(5):452. doi: 10.1054/jocn.1999.0233. PMID: 10942670
Holmes-Adie syndrome with segmental hypohidrosis.
Lucy DD Jr, Van Allen MW, Thompson HS
Neurology 1967 Aug;17(8 Pt 1):763-9, 778. doi: 10.1212/wnl.17.8.763. PMID: 15088536

Therapy

Holmes-Adie syndrome.
Marmion VJ
Br Med J 1969 May 17;2(5654):450. doi: 10.1136/bmj.2.5654.450. PMID: 5781499Free PMC Article

Prognosis

Progression of cardiovascular autonomic dysfunction in Holmes-Adie syndrome.
Guaraldi P, Mathias CJ
J Neurol Neurosurg Psychiatry 2011 Sep;82(9):1046-9. Epub 2010 Jun 18 doi: 10.1136/jnnp.2009.195917. PMID: 20562402
Improved photographic assessment of the pupils in the syndromes of Horner and Holmes-Adie.
Ramsay DA, Woodruff G
Int Ophthalmol 1987 Feb;10(1):23-31. doi: 10.1007/BF00202778. PMID: 3557802

Clinical prediction guides

Progression of cardiovascular autonomic dysfunction in Holmes-Adie syndrome.
Guaraldi P, Mathias CJ
J Neurol Neurosurg Psychiatry 2011 Sep;82(9):1046-9. Epub 2010 Jun 18 doi: 10.1136/jnnp.2009.195917. PMID: 20562402
Bilateral Holmes-Adie syndrome as an early manifestation of the HIV neuropathy.
Cerny R, Rozsypal H, Kozner P, Machala L
Neurol Sci 2010 Oct;31(5):661-3. Epub 2010 Jun 22 doi: 10.1007/s10072-010-0355-9. PMID: 20567990
Ross syndrome: a rare or a misknown disorder of thermoregulation? A skin innervation study on 12 subjects.
Nolano M, Provitera V, Perretti A, Stancanelli A, Saltalamacchia AM, Donadio V, Manganelli F, Lanzillo B, Santoro L
Brain 2006 Aug;129(Pt 8):2119-31. Epub 2006 Jul 12 doi: 10.1093/brain/awl175. PMID: 16837483
Holmes-Adie syndrome, autoimmune hepatitis and celiac disease: a case report.
Csak T, Folhoffer A, Horvath A, Halász J, Diczházi C, Schaff Z, Szalay F
World J Gastroenterol 2006 Mar 7;12(9):1485-7. doi: 10.3748/wjg.v12.i9.1485. PMID: 16552828Free PMC Article
Cardiovascular and sweating dysfunction in patients with Holmes-Adie syndrome.
Bacon PJ, Smith SE
J Neurol Neurosurg Psychiatry 1993 Oct;56(10):1096-102. doi: 10.1136/jnnp.56.10.1096. PMID: 8410009Free PMC Article

Supplemental Content

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      Clinical tests in GTR
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