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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

Polymerizing laminins in development, health, and disease.
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Distinct phenotypes in a cohort of anti-CASPR2 associated neurological syndromes.
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Clin Neurol Neurosurg 2023 Nov;234:107994. Epub 2023 Sep 30 doi: 10.1016/j.clineuro.2023.107994. PMID: 37797365
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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
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

Photopsia.
Virdee J, Mollan SP
Pract Neurol 2020 Oct;20(5):415-419. Epub 2020 Jun 14 doi: 10.1136/practneurol-2019-002460. PMID: 32536606
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
Vogt-Koyanagi-Harada disease.
Street D, Sivaguru A, Sreekantam S, Mollan SP
Pract Neurol 2019 Aug;19(4):364-367. Epub 2019 Mar 19 doi: 10.1136/practneurol-2018-002152. PMID: 30890584
An approach to anisocoria.
Gross JR, McClelland CM, Lee MS
Curr Opin Ophthalmol 2016 Nov;27(6):486-492. doi: 10.1097/ICU.0000000000000316. PMID: 27585208
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

Therapy

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
Vogt-Koyanagi-Harada disease.
Street D, Sivaguru A, Sreekantam S, Mollan SP
Pract Neurol 2019 Aug;19(4):364-367. Epub 2019 Mar 19 doi: 10.1136/practneurol-2018-002152. PMID: 30890584
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

Paraneoplastic syndromes in ophthalmology.
Parrado-Carrillo A, Alcubierre R, Camós-Carreras A, Sanchez-Dalmau BF
Arch Soc Esp Oftalmol (Engl Ed) 2022 Jun;97(6):350-357. Epub 2022 Mar 12 doi: 10.1016/j.oftale.2022.03.006. PMID: 35292226
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
Neonatal abstinence syndrome: where are we, and where do we go from here?
Brandt L, Finnegan LP
Curr Opin Psychiatry 2017 Jul;30(4):268-274. doi: 10.1097/YCO.0000000000000334. PMID: 28426544
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

Neuro-Ophthalmic Manifestations of Intracranial Malignancies.
Dermarkarian CR, Kini AT, Al Othman BA, Lee AG
J Neuroophthalmol 2020 Sep;40(3):e31-e48. doi: 10.1097/WNO.0000000000000950. PMID: 32282510
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
Neonatal abstinence syndrome: where are we, and where do we go from here?
Brandt L, Finnegan LP
Curr Opin Psychiatry 2017 Jul;30(4):268-274. doi: 10.1097/YCO.0000000000000334. PMID: 28426544
Neuro-ophthalmology.
Trimarchi F
Curr Opin Neurol Neurosurg 1992 Oct;5(5):740-3. PMID: 1392147
Parinaud's syndrome.
Moffie D, Ongerboer de Visser BW, Stefanko SZ
J Neurol Sci 1983 Feb;58(2):175-83. doi: 10.1016/0022-510x(83)90215-0. PMID: 6834076

Recent systematic reviews

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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.
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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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