Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives

Ophthalmic Plast Reconstr Surg. 2015 Jan-Feb;31(1):1-12. doi: 10.1097/IOP.0000000000000347.


Purpose: To review the recent literature and describe the authors' experience with congenital upper eyelid coloboma.

Methods: In this review, we will summarize the embryologic and etiopathogenetic bases of congenital upper eyelid coloboma, and study the published clinical reports. We will also attempt to briefly shed some light on the rarer syndromic curiosities associated with upper eyelid coloboma.

Results: Congenital upper eyelid colobomas are one of the few nontraumatic oculoplastic emergencies that may occasionally present in the first few days of life with a corneal ulcer and may even present with impending perforation. They can present with or without corneopalpebral adhesions, may be isolated findings or a part of a larger spectrum of congenital anomalies as in the case of Fraser syndrome or Goldenhar syndrome, or could be associated with other rare curiosities that could challenge the clinician with a huge diagnostic dilemma.

Conclusions: Existing literature dealing with congenital colobomas of the upper eyelid is fraught with nosologic problems, confusing etiologies, and overlapping clinical features. We attempted to clarify the salient clinical features, outline the management principles, and until a time in the not-so-distant future where advances in molecular genetic testing would help redefine the etiology and the diverse clinical spectrum of genetic diseases associated with upper eyelid colobomas, we propose a simplified classification scheme based on the relation of the coloboma to the cornea, the presence or absence of systemic features, and all the syndromic and nonsyndromic associations of congenital coloboma of the upper eyelid known today.

Publication types

  • Review

MeSH terms

  • Coloboma* / epidemiology
  • Coloboma* / etiology
  • Coloboma* / surgery
  • Eye / embryology
  • Eyelids / abnormalities*
  • Eyelids / embryology
  • Fetal Development
  • Humans
  • Ophthalmologic Surgical Procedures
  • Plastic Surgery Procedures