Blepharophimosis And Marcus Gunn Ptosis as Special Types of Pediatric Ptosis

  • A. K. GroverEmail author
  • Shaloo Bageja
  • Amrita Sawhney
  • Anurag Mittal


Blepharophimosis syndrome and Marcus Gunn ptosis, significant associations of congenital ptosis, require specialised techniques of management. Blepharophimosis syndrome often requires a two step approach, first stage comprising correction of congenital anomalies of epicanthus, telecanthus and shorter size of palpebral fissure. The second step corrects ptosis, usually by Frontalis sling procedures. Jaw winking or Marcus Gunn ptosis is a complex problem, the management of which requires disabling of the levator muscle to eliminate jaw winking and to correct ptosis by a frontal sling procedure, preferably without creating asymmetry.


Marcus Gunn ptosis Levator disabling Frontalis sling Blepharophimosis syndrome Transnasal wiring Y–V plasty 

Suggested Readings

  1. 1.
    Demirci H, Frueh BR, Nelson CC. Marcus Gunn Jaw-Winking synkinesis clinical features and management. Ophthalmology. 2010;117:1447–52.Google Scholar
  2. 2.
    Sthapit RP, Saiju R. Surgical outcomes in cases of Marcus-Gunn Jaw-Winking phenomenon. Kathmandu Univ Med J. 2015;13(49):34–7.Google Scholar
  3. 3.
    Doco-Fenzy M, Mauran P, Lebrun JM, Bock S, Bednarek N, Struski S, et al. Pure direct duplication (12) (q24.1–q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies. Am J Med Genet. 2006;140A:212–21.Google Scholar
  4. 4.
    Kirkham TH. Familial Marcus-Gunn phenomenon. Br J Ophthalmol. 1969;53(4):282–3.Google Scholar
  5. 5.
    Parry R. An unusual case of the Marcus gunn syndrome. Trans Opthal Soc. 1957;77:181–5.Google Scholar
  6. 6.
    Sobel, Rachel K, Allen, Richard C. Incidence of bilateral Marcus Gunn Jaw Wink. Ophthalmic Plast Reconstr Surg. 2014;30(3):e54–55.Google Scholar
  7. 7.
    Yamada K, Hunter DG, Andrews C, Engle EC. A novel kif21a mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn Jaw-Winking Phenomenon. Arch Ophthalmol. 2005;123(9):1254–9.Google Scholar
  8. 8.
    Bullock JD. Marcus-Gunn Jaw-Winking ptosis: classification and surgical management. J Pediatr Ophthalmol Strabismus. 1980;17(6):375–379.Google Scholar
  9. 9.
    Pratt SG, Beyer CK, Johnson CC. The Marcus Gunn phenomenon. A review of 71 cases. Ophthalmology. 1984;91(1):27–30.Google Scholar
  10. 10.
    Khwarg SI, Tarbet KJ, Dortzbach RK, Lucarelli MJ. Mangement of morderate to severe Marcus Gunn jaw-winking ptosis. Ophthalmology. 1999;106(6):1191–1196.Google Scholar
  11. 11.
    Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet 1988; 25:47–51.Google Scholar
  12. 12.
    Dimitry TJ. Hereditary ptosis. Am J Ophthalmol. 1921;4:655–8.Google Scholar
  13. 13.
    Owens N, Hadley R, Kloepper R. Hereditary blepharophimosis, ptosis epicanthus inversus. J Int Coll Surg. 1960;33:558–74.Google Scholar
  14. 14.
    Cocquet J, De Baere E, Gareil M, Pannetier M, Xia X, Fellous M, Veitia RA. Structure, evolution and expression of the FOXL2 transcription unit. Cytogenet Genome Res. 2003;101:206–211.Google Scholar
  15. 15.
    Kohn R, Romano PE. Blepharoptosis, blepharophimosis, epicanthus inversus and telecanthus-a syndrome with no name. Am J Ophthalmol. 1971;72:625–31.Google Scholar
  16. 16.
    Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet. 1983;35:1020–7.Google Scholar
  17. 17.
    Wyu S-Y, Ma L, Tsai Y-J, Kuo JZ-C. One stage correction for blepharophimisis syndrome. Eye. 2008;22:380–88.Google Scholar
  18. 18.
    Farkas LG, Ross RB, Posnick JC, et al. Orbital measurements in 63 hyperteloric patients. Differences Surg. 1989;17:245–9.Google Scholar
  19. 19.
    Ward RE, Jamison PL, Farkas LG. Craniofacial variability index: a simple measure of normal and abnormal variation in the head and face. Am J Med Genet. 1998;80:232–40.Google Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • A. K. Grover
    • 1
    Email author
  • Shaloo Bageja
    • 2
  • Amrita Sawhney
    • 2
  • Anurag Mittal
    • 2
  1. 1.Department of OphthalmologySir Ganga Ram Hospital and Vision Eye CentresNew DelhiIndia
  2. 2.Department of OphthalmologySir Ganga Ram HospitalNew DelhiIndia

Personalised recommendations