Imaging Casebook

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Congenital Bilateral Upper Eyelid Coloboma
Pratibha A. Ankola, MD
Hisham Abdel-Azim, MD

Journal of Perinatology (2003) 23, 166–167. doi:10.1038/sj.jp.7210872

CASE PRESENTATION
A 3400 g full-term male infant was born by spontaneous vaginal
delivery to gravida 3 para 2 woman. The woman had received good
prenatal care and had no perinatal risk factors. Apgar scores were 9
and 9 at 1 and 5 minutes, respectively. Physical examination at
birth revealed bilateral symmetrical partial absence of medial third
of upper eyelids (Figure 1). Lacrimal punctae were absent from
both upper eyelids. Lower eyelids were normal and lacrimal
punctae were patent. Pupils, anterior segments and fundi were
normal bilaterally. There were no masses, and no dysmorphic
facial features. Rest of the physical examination was normal.
Chromosomal analysis revealed normal male genotype. Hearing
screen by otoacoustic emission was normal. Baby had two other
siblings with no significant medical history. There was no family
history of similar or any other congential anomalies. Baby was
treated conservatively with lubricants and night-time patching with
plan for delayed surgical repair.
DENOUEMENT AND DISCUSSION
A Coloboma is a full-thickness defect of the eyelid margin that
occurs congenitally.1 The defect may be unilateral or bilateral,
involving one or all four eyelids and may vary from a small notch
of the lid margin to a complete absence of the entire lid. Usually,
colobomas are located nasally in the upper eyelid and laterally in
the lower eyelid.1
Colobomas of the eyelid are rare but can present as a relative
emergency in neonate requiring corneal protection, and are
frequently associated with systemic and ocular anomalies.2,3
Associated ocular anomalies include dermoid, lipodermoid,
keratonus, coloboma of the iris and micro-ophthalmia.
Nasopalpebral lipoma–coloboma syndrome is inherited as
autosomal dominant trait with full penetrance.4 Colobomas may
Metropolitan Hospital Center, New York Medical College, NY, USA.
Address correspondence and reprint requests to Pratibha A. Ankola, MD, Department of
Pediatrics, Room #523, Metropolitan Hospital Center, 1901 First Avenue, New York, NY 10029,
USA.
Figure 1. Bilateral symmetrical partial absence of medial part of
upper eyelids.
also occur as part of one of the ‘‘first arch’’ syndromes such as
Goldenhar and Treacher Collins syndrome or may be associated
with a facial cleft.3 There is also a high incidence of strabismus in
the presence of high refractive error or opacities in the ocular
media or fibrous bands limiting ocular movements.3 Various
factors have been implicated in the pathogenesis of colobomas.
Timely and complete epithelial adherence of the lid folds at the
ninth week of gestation and its maintenance between the 10th
week and the sixth month is required for normal growth of lids
and marginal structures.4 Any local factor interfering with this
process may lead to palpebral colobomas and maldevelopment of
eyelashes, punctae and other adjacent structures. Alternatively,
abnormalities in the vascular system and in the neural crest cell
development have been implicated in the etiology of the first arch
syndromes and failure of fusion in some cases possibly associated
with abnormal fibrous bands causes facial clefts.3 Treatment of
eyelid colobomas depend primarily on the amount of corneal
exposure.3 If corneal integrity is maintained, small lid colobomas
may be managed conservatively, with lubricants, air-tight moist
chambers and night time patching. This may allow corrective
surgery to be delayed until the tissues are more lax and the child is
better able to tolerate anesthesia. If the cornea is exposed and the
defect is less than 35% of the horizontal fissure, direct closure can
achieve excellent cosmetic and functional results. A lateral
nthotomy/catholysis may be necessary to facilitate closure of a 35
to 45% defect and to prevent excess tension on the wound. For the
colobomas that involve more than 45% of the horizontal length of
the eyelid, a two-stage reconstruction may be required.
Journal of Perinatology 2003; 23:166–167
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Upper Eylid Coloboma Ankola and Abdel-Azim

References 3. Collins JR. Congenital upper lid coloboma. Aust NZ J Ophthalmol 1986;
1. Haik HM, Bullock JD. Eyelid coloboma. In: Roy FH, editor. Master 14:313–7.
Techniques in Ophthalmic Surgery. Baltimore: Williams & Wilkins; 1995. 4. Penchaszadeh VB, Velasequez D, Arrivillaga R. Nasopalpebral lipoma–
p. 404–8. coloboma syndrome: A new autosomal dominant dysplasia–malformation
2. Casey TA. Congenital colobomata of the eyelids. Trans Ophthalmol Soc UK syndrome. Am J Med Genet 1982;11:397–410.
1976;96:65–8.

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