Congenital Anomalies of the Eyelids

oftalmoloji-17-2-kapak-wosonayiyok

Nejla TÜKENMEZ DİKMENa , Nureddin KARAKAŞa

aUniversity of Health Sciences Faculty of Medicine, İstanbul Sultan 2. Abdülhamid Han Training and Research Hospital, Department of Ophthalmology, İstanbul, Türkiye

ABSTRACT
Congenital eyelid anomalies can present with a variety of clinical presentations. They may occur as an isolated sporadic anomaly or as part of a syndrome. Therefore, a comprehensive evaluation of these children by both an ophthalmologist and a pediatrician is essential. Genetic counseling should be provided when necessary to determine the risks associated with other siblings. While waiting for the appropriate time for surgical intervention, precautions to protect eye health must be taken. Adequate moistening of the cornea and taking general precautions to prevent amblyopia are critical for the patient’s eye health. Accurate knowledge of surgical anatomy, the natural course of the disease, and the timing of surgical intervention are essential for the successful treatment of these often difficult cases. We aimed to discuss the most common congenital eyelid disorders in this review.
Keywords: Congenital abnormalities; eye abnormalities; eyelid diseases

Referanslar

  1. Sevel D. A reappraisal of the development of the eyelids. Eye (Lond). 1988;2 (Pt 2):123-9. [Crossref]  [PubMed]
  2. Tawfik HA, Abdulhafez MH, Fouad YA, Dutton JJ. Embryologic and Fetal Development of the Human Eyelid. Ophthalmic Plast Reconstr Surg. 2016;32(6):407-414. [Crossref]  [PubMed]  [PMC]
  3. Pearson AA. The development of the eyelids. Part I. External features. J Anat. 1980;130(Pt 1):33-42.
  4. Byun TH, Kim JT, Park HW, Kim WK. Timetable for upper eyelid development in staged human embryos and fetuses. Anat Rec (Hoboken). 2011;294(5):789-96. [Crossref]  [PubMed]
  5. Sevel D. The origins and insertions of the extraocular muscles: development, histologic features, and clinical significance. Trans Am Ophthalmol Soc. 1986;84:488-526.
  6. Duke-Elder S. Development of ocular adnexa. Syst Ophthalmol. 1938;1:364-5.
  7. Al-Mujaini A, Yahyai MA, Ganesh A. Congenital Eyelid Anomalies: What General Physicians Need To Know. Oman Med J. 2021;36(4):e279. [Crossref]  [PubMed]  [PMC]
  8. François J. Syndrome malformatif avec cryptophtalmie [Malformative syndrome with cryptophthalmos]. Acta Genet Med Gemellol (Roma). 1969;18(1):18-50. French. [Crossref]  [PubMed]
  9. Subramanian N, Iyer G, Srinivasan B. Cryptophthalmos: reconstructive techniques--expanded classification of congenital symblepharon variant. Ophthalmic Plast Reconstr Surg. 2013;29(4):243-8. [Crossref]  [PubMed]
  10. Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002;39(9):623-33. [Crossref]  [PubMed]  [PMC]
  11. Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, et al. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011;48(6):375-82. [Crossref]  [PubMed]  [PMC]
  12. Cruz AAV, Quiroz D, Boza T, Wambier SPF, Akaishi PS. Long-Term Results of the Surgical Management of the Upper Eyelids in "Ablepharon"-Macrostomia Syndrome. Ophthalmic Plast Reconstr Surg. 2020;36(1):21-25. [Crossref]  [PubMed]
  13. Jordan DR, McDonald H. Microblepharon. Ophthalmic Surg. 1992;23(7):494-5. [Crossref]
  14. Baylis HI, Bartlett RE, Cies WA. Reconstruction of the lower lid in congenital microphthalmos and anophthalmos. Ophthalmic Surg. 1975;6(3):36-40.
  15. Tawfik HA, Abdulhafez MH, Fouad YA. Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. Ophthalmic Plast Reconstr Surg. 2015;31(1):1-12. [Crossref]  [PubMed]  [PMC]
  16. Katowitz WR, Katowitz JA. Congenital Eyelid Anomalies. Albert and Jakobiec's Principles and Practice of Ophthalmology. Springer; 2022. p.5609-628. [Crossref]
  17. Mustardé JC. Congenital soft tissue deformities. Smith and Nesi's Ophthalmic Plastic and Reconstructive Surgery. Springer; 2011. p.1085-102. [Crossref]
  18. Katowitz WR, Katowitz JA. Congenital and developmental eyelid abnormalities. Plast Reconstr Surg. 2009;124(1 Suppl):93e-105e. [Crossref]  [PubMed]
  19. Dellinger MT, Thome K, Bernas MJ, Erickson RP, Witte MH. Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review. Lymphology. 2008;41(3):98-102.
  20. Rozenberg A, Pokroy R, Langer P, Tsumi E, Hartstein ME. Modified treatment of distichiasis with direct tarsal strip excision without mucosal graft. Orbit. 2018;37(5):341-3. [Crossref]  [PubMed]
  21. Tse DT, Anderson RL, Fratkin JD. Aponeurosis disinsertion in congenital entropion. Arch Ophthalmol. 1983;101(3):436-40. [Crossref]  [PubMed]
  22. Naik MN, Honavar SG, Bhaduri A, Linberg JV. Congenital horizontal tarsal kink: a single-center experience with 6 cases. Ophthalmology. 2007;114(8):1564-8. [Crossref]  [PubMed]
  23. Revere KE, Foster JA, Katowitz WR, Katowitz JA. Developmental Eyelid Abnormalities. Pediatr Oculoplastic Surg. Published online 2018. p.311-58. [Crossref]
  24. Revere K, Katowitz WR, Nazemzadeh M, Katowitz JA. Eyelid Developmental Disorders. In: Fay A, Dolman PJ, eds. Diseases and Disorders of the Orbit and Ocular Adnexa. Elsevier Inc.; 2016. p.137-52. [Crossref]
  25. Sakol PJ, Mannor G, Massaro BM. Congenital and acquired blepharoptosis. Curr Opin Ophthalmol. 1999;10(5):335-9. [Crossref]  [PubMed]
  26. Lin LK, Martin J. State of the Art in Congenital Eyelid Deformity Management. Facial Plast Surg. 2016;32(2):142-9. [Crossref]  [PubMed]
  27. Kersten RC, Collin R, Henderson HWA, Collin JRO. Lids: Congenital and acquired abnormalities − practical management. Pediatric Ophthalmology and Strabismus. 4th ed. LTD; 2012. p.165-77. [Crossref]
  28. Çiftçi F, Parlakgüneş Z. Konjenital Ptozis. Argın MA, editör. Blefaroptozis. 1. Baskı. Ankara: Türkiye Klinikleri; 2018. p.6-14.
  29. McNab AA. Blepharoptosis. Plast Surg-Princ Pract. Published online 2021. p.1096-106. [Crossref]
  30. Marenco M, Macchi I, Macchi I, Galassi E, Massaro-Giordano M, Lambiase A. Clinical presentation and management of congenital ptosis. Clin Ophthalmol. 2017 27;11:453-63. [Crossref]  [PubMed]  [PMC]
  31. Mustarde JC. Epicanthus and telecanthus. Br J Plast Surg. 1963:346-56. [Crossref]  [PubMed]
  32. Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet. 1988;25(1):47-51. [Crossref]  [PubMed]  [PMC]
  33. Chen H. Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome. New York, NY, USA: Atlas Genet Diagnosis Couns Springer; Published online 2012. p.233-8. [Crossref]
  34. Dawson EL, Hardy TG, Collin JR, Lee JP. The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). Strabismus. 2003;11(3):173-7. [Crossref]  [PubMed]
  35. Wu SY, Ma L, Tsai YJ, Kuo JZ. One-stage correction for blepharophimosis syndrome. Eye (Lond). 2008;22(3):380-8. [Crossref]  [PubMed]
  36. McCord CD Jr, Chappell J, Pollard ZF. Congenital euryblepharon. Ann Ophthalmol. 1979;11(8):1217-24.
  37. Dollfus H, Verloes A. Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol. 2004;49(6):547-61. [Crossref]  [PubMed]
  38. Kim NM, Jung JH, Choi HY. The effect of epiblepharon surgery on visual acuity and with-the-rule astigmatism in children. Korean J Ophthalmol. 2010;24(6):325-30. [Crossref]  [PubMed]  [PMC]
  39. Woo KI, Kim YD. Management of epiblepharon: state of the art. Curr Opin Ophthalmol. 2016;27(5):433-8. [Crossref]  [PubMed]