Eyelid Coloboma

Updated: Jul 30, 2018
Author: Mounir Bashour, MD, PhD, CM, FRCSC, FACS; Chief Editor: Hampton Roy, Sr, MD 



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.


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 follows[3] :

  • 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)



United States

An eyelid coloboma is a rare anomaly.


Manitoba Oculotrichoanal (MOTA) syndrome occurs in Aboriginal patients of the Island Lake 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, 5]


Untreated eyelid colobomas may lead to significant morbidity.


No known racial predilection exists for eyelid coloboma.


No known sexual predilection exists for eyelid coloboma.


By definition, congenital eyelid colobomas are present at birth.


Prognosis is excellent to good in eyelid colomba, depending on the size of the lesion and the speed of therapy.

Patient Education

Genetic consultation is highly recommended, especially for patients with associated syndromes, such as Treacher Collins syndrome, which is autosomal dominant with variable penetrance and expressivity.




See the list below:

  • 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


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


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



Differential Diagnoses



Imaging Studies

CT scan of the orbits and the skull is indicated in patients with such associated syndromes as Treacher Collins syndrome.



Medical Care

Corneal protection is the primary goal in the medical treatment of eyelid colobomas. Modalities that can be used either for small defects or for large defects awaiting definitive surgical therapy include the following:

  • Artificial tears and ointment

  • Moist chamber optical bandages

  • Bedtime patching

Surgical Care

Corneal protection and cosmesis are indications for surgical therapy. The surgical procedure used depends on the size and the location of the defect.

If the eyelid coloboma is small and well managed with topical lubrication, then surgery may be delayed until later in childhood. Usually, it is corrected by direct closure. The edges of the defect are freshened with sharp incisions, and precise anastomosis is preformed. The lid margin is brought together using a 2-layer approximation of the tarsus and the skin. Lateral cantholysis and placement of near-far, far-near sutures may be necessary to minimize horizontal tension.

A recent paper describing late repair (age 17 y) of a 10-mm upper eyelid coloboma has been described by Lee et al.[6]

If the eyelid coloboma is large, immediate surgical closure is usually needed to prevent corneal compromise. A 2-stage reconstruction may be required for those defects that occupy greater than 40-50% of the lid. The surgical procedure used depends on the involved lid, as follows:

  • Lower lid: The modified Hughes procedure is as follows: upper lid tarso-conjunctival flap (for tarsus layer) with retroauricular skin flap (for skin layer).

  • Upper lid: The modified Cutler-Beard procedure is as follows: lower lid tarso-conjunctival flap (for tarsus layer) with retroauricular skin flap (for skin layer).

  • Alternate techniques for either the upper lid or the lower lid include the following: a semicircular flap from the lateral canthal area (Tenzel or modified Tenzel flap) and a full-thickness lid rotational flap.


See the list below:

  • Pediatrician and/or neonatologist

  • Geneticist


Amblyopia is the most common complication of any pediatric ocular problem. It must be ruled out and, if present, treated.

Eyelid-sharing procedures, such as the Hughes procedure and the Cutler-Beard (unmodified) procedure, should be used with caution (or not at all) in the pediatric population.

Planned excision of associated limbal dermoids should be cautiously undertaken. Pseudopterygium and symblepharon, as well as perforation, are common complications. Lamellar grafts have been advocated.

For lower lid colobomas, consider the mandibulofacial dysostosis syndromes, especially Treacher Collins syndrome or Franceschetti syndrome. Treacher Collins syndrome is associated with mandibular hypoplasia, which is a consistent feature of mandibulofacial dysostosis.

For upper lid colobomas, consider oculoauricular dysplasia (Goldenhar syndrome).

Amniotic band syndrome often presents with corneal opacities and facial clefts, in addition to eyelid colobomas.

Long-Term Monitoring

Perform corneal examination with staining to ensure that corneal abrasion from sutures is not present and to monitor corneal health or recovery from previous compromise.

Ensure that other coexisting anomalies have been ruled out and that all consultations have been performed.

Monitor patients closely for amblyopia, and treat this condition if necessary.

Inpatient & Outpatient Medications

Topical antibiotic or combination ointment, such as TobraDex, should be administered to the operated eye(s) 4 times a day for 1-2 weeks following surgery.



Medication Summary

The goal of pharmacotherapy is to reduce morbidity and to prevent complications.

Ophthalmic lubricants

Class Summary

Prevent excessive dryness and irritation of the eye.

Artificial tears (Refresh Tears, GenTeal)

Acts to stabilize and thicken precorneal tear film and prolong tear film breakup time, which occurs with dry eye states.