eMedicine Specialties > Ophthalmology > Lid

Eyelid Coloboma

Author: Mounir Bashour, MD, CM, FRCS(C), PhD, FACS, Assistant Professor of Ophthalmology, McGill University; Clinical Assistant Professor of Ophthalmology, Sherbrooke University; Medical Director, Cornea Laser and Lasik MD
Contributor Information and Disclosures

Updated: Nov 2, 2007

Introduction

Background

An eyelid coloboma is a full-thickness defect of the eyelid. Although an eyelid coloboma can occur in many locations, the most common position is at the junction of the medial and middle third of the upper lid. No lid appendages or accessory structures are usually seen within the coloboma.

Pathophysiology

An eyelid coloboma may occur either congenitally or as a result of trauma (eg, accidental, surgical). An eyelid coloboma is an almost constant feature of Treacher Collins syndrome, which is autosomal dominant with variable penetrance and expressivity.

Upper eyelid coloboma is often associated with cryptophthalmos and, as a result, can occur in any genetic diseases involving cryptophthalmos, including Fraser syndrome (cryptophthalmos syndrome) and Manitoba Oculotrichoanal (MOTA) syndrome.1,2

A case review of upper eyelid coloboma with or without cryptophthalmos included 26 children (age range, 1 d after birth to 15 y).3 Of these 26 children, 19 had upper eyelid coloboma, 4 had classic cryptophthalmos, and 3 had both eyelid coloboma and cryptophthalmos. Of the 19 cases of upper eyelid coloboma, 5 occurred in isolation, 11 were associated with facial deformities, and 3 were part of a first arch syndrome (according to the Mustarde classification). All cases of classic cryptophthalmos were sporadic and nonsyndromic.

In this case review, Nouby concluded that upper eyelid coloboma with facial deformities and cryptophthalmos could be considered as one anomaly.3

Nouby suggested a new grading for this anomaly, as follows3 :

  • Grade 1 - Coloboma without cryptophthalmos
  • Grade 2 - Coloboma with abortive cryptophthalmos
  • Grade 3 - Coloboma with complete cryptophthalmos
  • Grade 4 - Classic cryptophthalmos (absence of all eyelid structures and complete coverage of eye by skin)
  • Grade 5 - Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip)

Frequency

United States

An eyelid coloboma is a rare anomaly.

International

Manitoba Oculotrichoanal (MOTA) syndrome occurs in Aboriginal patients of the IslandLake region of Northern Manitoba. Characteristic findings in patients who are affected include unilateral upper eyelid coloboma or cryptophthalmos with ipsilateral aberrant anterior hairline pattern and anal anomalies.1,4

Mortality/Morbidity

Untreated eyelid colobomas may lead to significant morbidity.

Race

No known racial predilection exists.

Sex

No known sexual predilection exists.

Age

By definition, congenital eyelid colobomas are present at birth.

Clinical

History

  • Perinatal and pregnancy history
  • Family history of congenital eyelid colobomas or other congenital anomalies, especially facial (eg, cleft lip/palate)
  • History of other current birth defects
  • Pediatric review of systems
  • History of progressive corneal problems

Physical

Perform a complete ophthalmic assessment, possibly under general anesthesia or at the time of surgical repair. Possible associated findings include the following:

  • Choroid - Coloboma
  • Conjunctiva
    • Symblepharon
    • Malformation of the caruncle
    • Symblepharon from the defect to the globe
  • Cornea
    • Exposure keratopathy
    • Opacities
    • Cicatrization
  • Eyelids
    • Trichiasis
    • Dermoid tumors
    • Dermolipomas
  • Lacrimal system - Obstruction proximal to the lacrimal sac
  • Lens
    • Cataract (anterior polar)
    • Subluxation
  • Sclera - Epibulbar dermoid tumor
  • Eyebrows - Defects
  • Iris - Coloboma

Causes

An eyelid coloboma may occur either congenitally or as a result of trauma (eg, accidental, surgical).

More on Eyelid Coloboma

Overview: Eyelid Coloboma
Differential Diagnoses & Workup: Eyelid Coloboma
Treatment & Medication: Eyelid Coloboma
Follow-up: Eyelid Coloboma
References
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References

  1. Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. Apr 15 2007;143(8):853-7. [Medline].

  2. Dibben K, Rabinowitz YS, Shorr N, Graham JM Jr. Surgical correction of incomplete cryptophthalmos in Fraser syndrome. Am J Ophthalmol. Jul 1997;124(1):107-9. [Medline].

  3. Nouby G. Congenital upper eyelid coloboma and cryptophthalmos. Ophthal Plast Reconstr Surg. Sep 2002;18(5):373-7. [Medline].

  4. Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. Am J Med Genet. Apr 1 1992;42(6):793-9. [Medline].

  5. Agashe AP, Adrianwala SD, Bhatti SS, Contractor CP. Fraser's syndrome. J Postgrad Med. Oct-Dec 1992;38(4):209-10, 208. [Medline].

  6. Ankola PA, Abdel-Azim H. Congenital bilateral upper eyelid coloboma. J Perinatol. Mar 2003;23(2):166-7. [Medline].

  7. Budenz DL, Beyer-Machule CK, Albert DM. Histology of partial thickness double composite eyelid graft. Ophthalmic Surg. May 1989;20(5):362-6. [Medline].

  8. Collin JR. Congenital upper lid coloboma. Aust N Z J Ophthalmol. Nov 1986;14(4):313-7. [Medline].

  9. Crawford JS. Congenital eyelid anomalies in children. J Pediatr Ophthalmol Strabismus. Jul-Aug 1984;21(4):140-9. [Medline].

  10. Cuttone JM, Durso F, Miller M, Evans LS. The relationship between soft tissue anomalies around the orbit and globe and astigmatic refractive errors: a preliminary report. J Pediatr Ophthalmol Strabismus. Jan-Feb 1980;17(1):29-36. [Medline].

  11. Fuente del Campo A, Nahas R, Vazquez Ambriz V. A procedure for the reconstruction of the lateral palpebral canthus. Ophthal Plast Reconstr Surg. Mar 1994;10(1):6-10. [Medline].

  12. Hauben DJ, Tessler Z. One-stage reconstruction of a large upper lid defect in a newborn. Plast Reconstr Surg. Feb 1989;83(2):337-40. [Medline].

  13. Mansour AM, Barber JC, Reinecke RD, Wang FM. Ocular choristomas. Surv Ophthalmol. Mar-Apr 1989;33(5):339-58. [Medline].

  14. Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R. Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol. Oct 15 1985;100(4):555-9. [Medline].

  15. Patipa M, Wilkins RB, Guelzow KW. Surgical management of congenital eyelid coloboma. Ophthalmic Surg. Mar 1982;13(3):212-6. [Medline].

  16. Putterman AM. Wedge resection of eyelid margin in the treatment of abnormal eyelid margins. Arch Ophthalmol. Nov 1995;113(11):1458-9. [Medline].

  17. Roddi R, Vaandrager JM, van der Meulen JC. Treacher Collins syndrome: early surgical treatment of orbitomalar malformations. J Craniofac Surg. May 1995;6(3):211-7. [Medline].

  18. Sharma A, Sukhija J, Das A, Saroha V, Sukhi S, Mohan K. Large pedunculated congenital corneal dermoid in association with eyelid coloboma. J Pediatr Ophthalmol Strabismus. Jan-Feb 2004;41(1):53-5. [Medline].

  19. Yeo LM, Willshaw HE. Large congenital upper lid coloboma--successful delayed conservative management. J Pediatr Ophthalmol Strabismus. May-Jun 1997;34(3):190-2. [Medline].

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Further Reading

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Keywords

eyelid defects, congenital eyelid defects, Treacher Collins syndrome, mandibulofacial dysostosis, cryptophthalmos, facial deformity

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Contributor Information and Disclosures

Author

Mounir Bashour, MD, CM, FRCS(C), PhD, FACS, Assistant Professor of Ophthalmology, McGill University; Clinical Assistant Professor of Ophthalmology, Sherbrooke University; Medical Director, Cornea Laser and Lasik MD
Mounir Bashour, MD, CM, FRCS(C), PhD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American College of International Physicians, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, American Society of Mechanical Engineers, American Society of Ophthalmic Plastic and Reconstructive Surgery, Biomedical Engineering Society, Canadian Medical Association, Canadian Ophthalmological Society, Contact Lens Association of Ophthalmologists, International College of Surgeons US Section, Ontario Medical Association, Quebec Medical Association, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Medical Editor

Jorge G Camara, MD, Chairman, Department of Ophthalmology and Otorhinolaryngology, Director of Fellowship Training Program, St Francis Medical Center; Associate Professor, Department of Surgery, University of Hawaii School of Medicine
Jorge G Camara, MD is a member of the following medical societies: American Academy of Ophthalmology and American Medical Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Mark T Duffy, MD, PhD, Consulting Staff, Division of Oculoplastic, Orbito-facial, Lacrimal, and Reconstructive Surgery, Green Bay Eye Clinic, BayCare Clinic
Mark T Duffy, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Ophthalmic Plastic and Reconstructive Surgery, Sigma Xi, and Society for Neuroscience
Disclosure: Allergan - Botox Cosmetic Consulting fee Consulting; Quest medical - lacrimal balloons Honoraria Speaking and teaching

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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