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Congenital ptosis

MedGen UID:
78612
•Concept ID:
C0266573
•
Congenital Abnormality
Synonym: Ptosis, congenital
SNOMED CT: Congenital ptosis of upper eyelid (268163008); Congenital ptosis (268163008)
 
HPO: HP:0007970

Definition

The drooping of the upper or lower eyelid that is present at the time of birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital ptosis
Follow this link to review classifications for Congenital ptosis in Orphanet.

Conditions with this feature

Jaw-winking syndrome
MedGen UID:
120582
•Concept ID:
C0266521
•
Disease or Syndrome
The Marcus Gunn phenomenon consists of unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. Although it usually persists into adult life, the phenomenon is seen in its most marked forms in infancy when the rapid spasmodic movements of the lid are apparent during sucking and thus are noted soon after birth (Doco-Fenzy et al., 2006).
See: Condition Record
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
MedGen UID:
338127
•Concept ID:
C1850806
•
Disease or Syndrome
See: Condition Record
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
MedGen UID:
348108
•Concept ID:
C1860464
•
Disease or Syndrome
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
See: Condition Record
Blepharoptosis-myopia-ectopia lentis syndrome
MedGen UID:
400006
•Concept ID:
C1862259
•
Disease or Syndrome
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.
See: Condition Record
Ptosis, hereditary congenital, 1
MedGen UID:
357987
•Concept ID:
C1867438
•
Disease or Syndrome
Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis. See PTOS2 (300245) for description of an X-linked form of congenital bilateral isolated ptosis.
See: Condition Record
Blepharoptosis-myopia-ectopia lentis syndrome
Jaw-winking syndrome
Myasthenia, congenital, refractory to acetylcholinesterase inhibitors
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Ptosis, hereditary congenital, 1

Professional guidelines

PubMed

A review of acquired blepharoptosis: prevalence, diagnosis, and current treatment options.
Bacharach J, Lee WW, Harrison AR, Freddo TF
Eye (Lond) 2021 Sep;35(9):2468-2481. Epub 2021 Apr 29 doi: 10.1038/s41433-021-01547-5. PMID: 33927356Free PMC Article
Congenital eyelid ptosis: onset and prevalence of amblyopia, associations with systemic disorders, and treatment outcomes.
Stein A, Kelly JP, Weiss AH
J Pediatr 2014 Oct;165(4):820-4.e2. Epub 2014 Jul 30 doi: 10.1016/j.jpeds.2014.06.053. PMID: 25085522
The frequency of genetic eye diseases in a genetic counseling center.
Elçioğlu N, Elçioğlu M, Fuhrmann W
Genet Couns 1995;6(4):329-42. PMID: 8775420

Recent clinical studies

Etiology

Timing of Surgery and Treatment Options for Congenital Ptosis in Children: A Narrative Review of the Literature.
Bai JS, Song MJ, Li BT, Tian R
Aesthetic Plast Surg 2023 Feb;47(1):226-234. Epub 2022 Sep 16 doi: 10.1007/s00266-022-03039-7. PMID: 36114384
Amblyopia and Refractive Status in Congenital Ptosis: The Effect and Timing of Surgical Correction.
Wu X, Zhang J, Ding X, Cao Y, Zhu X, Li R, Li L, Lin M, Li J
Ann Plast Surg 2021 Jul 1;87(1):49-53. doi: 10.1097/SAP.0000000000002677. PMID: 33538502
Myopathic Blepharoptoses: A New Classification System.
Burnstine M, Greer C, Lee DK, Kim JW
Ophthalmic Plast Reconstr Surg 2019 Nov/Dec;35(6):525-534. doi: 10.1097/IOP.0000000000001405. PMID: 31498270
The Sutureless Mullerectomy.
Gildener-Leapman JR, Sheps I, Stein R, Benyamini O, Milstein A, Hartstein ME
Ophthalmic Plast Reconstr Surg 2019 May/Jun;35(3):290-293. doi: 10.1097/IOP.0000000000001331. PMID: 30844915
Ptosis: causes, presentation, and management.
Finsterer J
Aesthetic Plast Surg 2003 May-Jun;27(3):193-204. Epub 2003 Aug 21 doi: 10.1007/s00266-003-0127-5. PMID: 12925861

Diagnosis

A review of acquired blepharoptosis: prevalence, diagnosis, and current treatment options.
Bacharach J, Lee WW, Harrison AR, Freddo TF
Eye (Lond) 2021 Sep;35(9):2468-2481. Epub 2021 Apr 29 doi: 10.1038/s41433-021-01547-5. PMID: 33927356Free PMC Article
Myopathic Blepharoptoses: A New Classification System.
Burnstine M, Greer C, Lee DK, Kim JW
Ophthalmic Plast Reconstr Surg 2019 Nov/Dec;35(6):525-534. doi: 10.1097/IOP.0000000000001405. PMID: 31498270
The congenital cranial dysinnervation disorders.
Gutowski NJ, Chilton JK
Arch Dis Child 2015 Jul;100(7):678-81. Epub 2015 Jan 29 doi: 10.1136/archdischild-2014-307035. PMID: 25633065
Blepharoptosis.
De Sanctis U, Alovisi C, Actis AG, Vinai L, Penna R, Fea A, Actis G, Grignolo F
Minerva Chir 2013 Dec;68(6 Suppl 1):37-47. PMID: 24172762
Ptosis: causes, presentation, and management.
Finsterer J
Aesthetic Plast Surg 2003 May-Jun;27(3):193-204. Epub 2003 Aug 21 doi: 10.1007/s00266-003-0127-5. PMID: 12925861

Therapy

Surgical Interventions for Congenital Ptosis: a Systematic Review and Meta-analysis of 14 Randomized Controlled Trials.
Chen L, Li J, Zhang C, Li Y, Hou L, Ma J
Aesthetic Plast Surg 2023 Oct;47(5):1859-1869. Epub 2023 May 5 doi: 10.1007/s00266-023-03360-9. PMID: 37145320
Psychosocial and mental health disorders among a population-based, case-control cohort of patients with congenital upper eyelid ptosis.
Hendricks TM, Griepentrog GJ, Hodge DO, Mohney BG
Br J Ophthalmol 2023 Jan;107(1):12-16. Epub 2021 Jul 19 doi: 10.1136/bjophthalmol-2021-319276. PMID: 34281901Free PMC Article
Silicone sling frontalis suspension for congenital ptosis: Outcome of 174 consecutive cases.
Landau Prat D, Ramakrishnan M, Zhao C, Revere K, Katowitz WR, Katowitz JA
Clin Exp Ophthalmol 2022 Aug;50(6):608-614. Epub 2022 Jun 14 doi: 10.1111/ceo.14112. PMID: 35610953
Anterior approach levator plication for congenital ptosis, absorpable versus non absorpable sutures.
Salamah M, Eid AM, Albialy H, Sharaf El Deen S
Eur J Ophthalmol 2022 Jan;32(1):134-139. Epub 2021 Mar 25 doi: 10.1177/11206721211005320. PMID: 33765856
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis.
Wang Y, Xu Y, Liu X, Lou L, Ye J
Sci Rep 2018 May 29;8(1):8320. doi: 10.1038/s41598-018-26671-3. PMID: 29844360Free PMC Article

Prognosis

Myopathic Blepharoptoses: A New Classification System.
Burnstine M, Greer C, Lee DK, Kim JW
Ophthalmic Plast Reconstr Surg 2019 Nov/Dec;35(6):525-534. doi: 10.1097/IOP.0000000000001405. PMID: 31498270
The Sutureless Mullerectomy.
Gildener-Leapman JR, Sheps I, Stein R, Benyamini O, Milstein A, Hartstein ME
Ophthalmic Plast Reconstr Surg 2019 May/Jun;35(3):290-293. doi: 10.1097/IOP.0000000000001331. PMID: 30844915
Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia.
Chisholm SAM, Costakos DM, Harris GJ
Ophthalmic Plast Reconstr Surg 2019 Jul/Aug;35(4):374-377. doi: 10.1097/IOP.0000000000001284. PMID: 30789542
Combined Surgery for Simultaneous Treatment of Congenital Ptosis and Coexisting Strabismus.
Zhou F, Ouyang M, Ma D, Liu G, Cheng H
J Pediatr Ophthalmol Strabismus 2017 Sep 1;54(5):288-294. Epub 2017 May 17 doi: 10.3928/01913913-20170320-08. PMID: 28510774
Congenital ptosis and amblyopia.
Oral Y, Ozgur OR, Akcay L, Ozbas M, Dogan OK
J Pediatr Ophthalmol Strabismus 2010 Mar-Apr;47(2):101-4. Epub 2010 Mar 22 doi: 10.3928/01913913-20100308-08. PMID: 20349903

Clinical prediction guides

Clinical observations of corneal topographic and tomographic changes in congenital ptosis eyes: a study in China.
Shen J, Li H, Chen Y, Liu L, Cui H
Int Ophthalmol 2023 May;43(5):1581-1590. Epub 2022 Oct 21 doi: 10.1007/s10792-022-02557-2. PMID: 36269442
Refractive error characteristics and influence on ocular parameters in patients with unilateral congenital ptosis.
Liu Y, Chen T, Huang J, Li W, Chen Y, Huo L
BMC Ophthalmol 2022 Jul 2;22(1):291. doi: 10.1186/s12886-022-02511-x. PMID: 35780098Free PMC Article
Amblyopia and Refractive Status in Congenital Ptosis: The Effect and Timing of Surgical Correction.
Wu X, Zhang J, Ding X, Cao Y, Zhu X, Li R, Li L, Lin M, Li J
Ann Plast Surg 2021 Jul 1;87(1):49-53. doi: 10.1097/SAP.0000000000002677. PMID: 33538502
Therapeutic Algorithm for Congenital Ptosis Repair with Levator Resection and Frontalis Suspension: Results and Literature Review.
Gazzola R, Piozzi E, Vaienti L, Wilhelm Baruffaldi Preis F
Semin Ophthalmol 2018;33(4):454-460. Epub 2017 Mar 15 doi: 10.1080/08820538.2017.1297840. PMID: 28296517
Strabismus in ptosis.
Anderson RL, Baumgartner SA
Arch Ophthalmol 1980 Jun;98(6):1062-7. doi: 10.1001/archopht.1980.01020031052008. PMID: 7387509

Recent systematic reviews

Surgical Interventions for Congenital Ptosis: a Systematic Review and Meta-analysis of 14 Randomized Controlled Trials.
Chen L, Li J, Zhang C, Li Y, Hou L, Ma J
Aesthetic Plast Surg 2023 Oct;47(5):1859-1869. Epub 2023 May 5 doi: 10.1007/s00266-023-03360-9. PMID: 37145320
Evolution of the «frontal flap advancement» in congenital ptosis.
Ortega-Evangelio L, Araújo-Miranda R, Raga-Cervera J, Romo López Á, Díaz-Céspedes RA, Peris-Martínez C
Arch Soc Esp Oftalmol (Engl Ed) 2022 Oct;97(10):572-582. Epub 2022 May 27 doi: 10.1016/j.oftale.2022.05.004. PMID: 35637109
Types of materials for frontalis sling surgery for congenital ptosis.
Rosenberg JB, Andersen J, Barmettler A
Cochrane Database Syst Rev 2019 Apr 23;4(4):CD012725. doi: 10.1002/14651858.CD012725.pub2. PMID: 31013353Free PMC Article
Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis.
Wang Y, Xu Y, Liu X, Lou L, Ye J
Sci Rep 2018 May 29;8(1):8320. doi: 10.1038/s41598-018-26671-3. PMID: 29844360Free PMC Article

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