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Ptosis-strabismus-ectopic pupils syndrome

MedGen UID:
356778
•Concept ID:
C1867437
•
Disease or Syndrome
Synonym: Ptosis, strabismus, and ectopic pupils
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008341
OMIM®: 178330
Orphanet: ORPHA2999

Definition

A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. [from ORDO]

Clinical features

From HPO
Ptosis
MedGen UID:
2287
•Concept ID:
C0005745
•
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
See: Feature record | Search on this feature
Strabismus
MedGen UID:
21337
•Concept ID:
C0038379
•
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPtosis-strabismus-ectopic pupils syndrome
Follow this link to review classifications for Ptosis-strabismus-ectopic pupils syndrome in Orphanet.

Professional guidelines

PubMed

Tebentafusp as a Promising Drug for the Treatment of Uveal Melanoma.
Al Balushi K, Al Hadhrami A, Balushi HA, Al Lawati A, Das S
Curr Drug Targets 2024;25(3):149-157. doi: 10.2174/0113894501280380231214105255. PMID: 38115619
Diagnosis and management of red eye in primary care.
Cronau H, Kankanala RR, Mauger T
Am Fam Physician 2010 Jan 15;81(2):137-44. PMID: 20082509
SUNCT Syndrome: diagnosis and treatment.
Pareja JA, Caminero AB, Sjaastad O
CNS Drugs 2002;16(6):373-83. doi: 10.2165/00023210-200216060-00002. PMID: 12027784

Recent clinical studies

Etiology

Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.
Lupo V, Di Gregorio MG, Mastrogiorgio G, Magliozzi M, Scapillati ME, Maglione V, Romanelli E, Alegiani C, Haass C, Novelli A
Am J Med Genet A 2023 Apr;191(4):1111-1118. Epub 2023 Jan 6 doi: 10.1002/ajmg.a.63118. PMID: 36607831
Evaluation of Pupillometric Parameters in Patients with COVID-19.
Öztürk Y, Yıldız MB, Bolaç R
Ocul Immunol Inflamm 2023 Jan;31(1):39-43. Epub 2021 Oct 12 doi: 10.1080/09273948.2021.1980811. PMID: 34637671
Ophthalmological Manifestations of Hereditary Myopathies.
Saint-Gerons M, Rubio MA, Aznar G, Matheu A
J Binocul Vis Ocul Motil 2022 Jan-Mar;72(1):4-17. Epub 2022 Jan 20 PMID: 35049410
Chronic progressive external ophthalmoplegia.
Lee AG, Brazis PW
Curr Neurol Neurosci Rep 2002 Sep;2(5):413-7. doi: 10.1007/s11910-002-0067-5. PMID: 12169221
Exfoliation syndrome.
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342

Diagnosis

Innovation Urrets-Zavalia syndrome.
Narang P, Narang R
Indian J Ophthalmol 2022 Aug;70(8):3166. doi: 10.4103/ijo.IJO_896_22. PMID: 35919013Free PMC Article
Tardive syndromes.
Mulroy E, Balint B, Bhatia KP
Pract Neurol 2020 Oct;20(5):368-376. Epub 2020 Jun 2 doi: 10.1136/practneurol-2020-002566. PMID: 32487722
An Asymmetric Pupil.
Uwagbai ON, Falzgraf S
Am Fam Physician 2019 Feb 1;99(3):191-192. PMID: 30702257
Ocular myasthenia gravis.
Lee AG
Curr Opin Ophthalmol 1996 Dec;7(6):39-41. doi: 10.1097/00055735-199612000-00006. PMID: 10166551
Neuro-ophthalmology.
Trimarchi F
Curr Opin Neurol Neurosurg 1992 Oct;5(5):740-3. PMID: 1392147

Therapy

Unintentional cetirizine overdose causing anticholinergic syndrome.
Renko A, Cortese T, Karagiannis P, Salzman M
Am J Emerg Med 2022 Feb;52:270.e1-270.e3. Epub 2021 Aug 25 doi: 10.1016/j.ajem.2021.08.062. PMID: 34474941
Tardive syndromes.
Mulroy E, Balint B, Bhatia KP
Pract Neurol 2020 Oct;20(5):368-376. Epub 2020 Jun 2 doi: 10.1136/practneurol-2020-002566. PMID: 32487722
Horner's syndrome and epidural anesthesia in labor and cesarean section.
Vogiatzaki T, Tsikouras P, Tsoleridis T, Bachar M, Christofis C, Liberis A, Galazios G
Clin Exp Obstet Gynecol 2017;44(3):337-340. PMID: 29949268
Unequal pupils and ptosis.
Malem A
BMJ 2017 Feb 23;356:j643. doi: 10.1136/bmj.j643. PMID: 28232306
Diagnosis and management of red eye in primary care.
Cronau H, Kankanala RR, Mauger T
Am Fam Physician 2010 Jan 15;81(2):137-44. PMID: 20082509

Prognosis

Cervical carcinoma leading to orbital apex syndrome and blindness.
Wadhwani M, Phuljhele S, Kumar R, Shameer A
BMJ Case Rep 2019 Mar 1;12(3) doi: 10.1136/bcr-2018-226587. PMID: 30826777Free PMC Article
Horner Syndrome: A Clinical Review.
Martin TJ
ACS Chem Neurosci 2018 Feb 21;9(2):177-186. Epub 2017 Dec 20 doi: 10.1021/acschemneuro.7b00405. PMID: 29260849
Developmental dyscalculia.
Shalev RS
J Child Neurol 2004 Oct;19(10):765-71. doi: 10.1177/08830738040190100601. PMID: 15559892
Exfoliation syndrome.
Ritch R, Schlötzer-Schrehardt U
Surv Ophthalmol 2001 Jan-Feb;45(4):265-315. doi: 10.1016/s0039-6257(00)00196-x. PMID: 11166342
Fenfluramine poisoning.
Von Mühlendahl KE, Krienke EG
Clin Toxicol 1979;14(1):97-106. doi: 10.3109/15563657909030119. PMID: 436387

Clinical prediction guides

Don't Miss This! Red Flags in the Pediatric Eye Exam: Pupils.
Lambert JE, Christiansen SP, Peeler CE
J Binocul Vis Ocul Motil 2019 Jul-Sep;69(3):102-105. doi: 10.1080/2576117X.2019.1609893. PMID: 31329052
Horner's syndrome and epidural anesthesia in labor and cesarean section.
Vogiatzaki T, Tsikouras P, Tsoleridis T, Bachar M, Christofis C, Liberis A, Galazios G
Clin Exp Obstet Gynecol 2017;44(3):337-340. PMID: 29949268
Iris alterations after DSAEK.
Del Hierro Zarzuelo A, Boto de Los Bueis A
Arch Soc Esp Oftalmol 2016 Sep;91(9):422-5. Epub 2016 Mar 17 doi: 10.1016/j.oftal.2016.02.005. PMID: 26996049
A guide to the isolated dilated pupil.
Lee AG, Taber KH, Hayman LA, Tang RA
Arch Fam Med 1997 Jul-Aug;6(4):385-8. doi: 10.1001/archfami.6.4.385. PMID: 9225713
Neuro-ophthalmology.
Trimarchi F
Curr Opin Neurol Neurosurg 1992 Oct;5(5):740-3. PMID: 1392147

Recent systematic reviews

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
Le H, Jin E, Jewell A, Jackson-Cook C, Haskell GT, Couser N
Am J Med Genet A 2023 Jun;191(6):1639-1645. Epub 2023 Mar 20 doi: 10.1002/ajmg.a.63186. PMID: 36941760
The safety of intracameral phenylephrine - A systematic review.
Gowda A, Jie WWJ, Casson R, Chan WO
Surv Ophthalmol 2022 Sep-Oct;67(5):1540-1546. Epub 2022 Jun 9 doi: 10.1016/j.survophthal.2022.06.002. PMID: 35691387
Conservative treatment cures an elderly pituitary apoplexy patient with oculomotor paralysis and optic nerve compression: a case report and systematic review of the literature.
Fan Y, Bao X, Wang R
Clin Interv Aging 2018;13:1981-1985. Epub 2018 Oct 12 doi: 10.2147/CIA.S181109. PMID: 30349217Free PMC Article
Remediating buildings damaged by dampness and mould for preventing or reducing respiratory tract symptoms, infections and asthma.
Sauni R, Verbeek JH, Uitti J, Jauhiainen M, Kreiss K, Sigsgaard T
Cochrane Database Syst Rev 2015 Feb 25;2015(2):CD007897. doi: 10.1002/14651858.CD007897.pub3. PMID: 25715323Free PMC Article
Remediating buildings damaged by dampness and mould for preventing or reducing respiratory tract symptoms, infections and asthma.
Sauni R, Uitti J, Jauhiainen M, Kreiss K, Sigsgaard T, Verbeek JH
Cochrane Database Syst Rev 2011 Sep 7;(9):CD007897. doi: 10.1002/14651858.CD007897.pub2. PMID: 21901714

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