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

Abstract

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.

FIG. 2.

Incomplete cryptophthalmos. Various clinical presentations of incomplete cryptophthalmos. A,B, Abnormal skin fold in the medial part of the upper eyelid adhering to the underlying cornea. Normal eyelids remnants could be seen lateral (A,B) and medial to the skin fold, and the upper punctum was also preserved (B). In both examples, the eye is quite, with a small coloboma and minimal keratopathy. Note the bifid nose ipsilateral to the defect in A. The other eye of the patient in A is in Figure 3A. C, A more severe case with the skin fold extending to and fusing with the lower eyelid. The medial part of the upper and lower eyelids are abnormal and no puncti are present, but the lateral part of the eyelid is preserved. D, Surgical division of the eyelid fold clearly illustrates the cornea showing through the thin skin fold, which is completely devoid of tarsus (*) in contrast to the normal lateral part of the eyelid where the tarsus is preserved (short arrow). Also, check Figure 1B in Tawfik.

FIG. 3.

Congenital symblepharon variant. The clinical spectrum of congenital symblepharon variant ranges from an insignificant coloboma with minimal corneopalpebral adhesions that is triangular in shape (A) to a more extensive coloboma that is quadrangular in shape (B). C,D, Larger defects are not uncommon and may involve almost the entire upper eyelid sparing only a small tongue of normal tissue in the lateral part with extensive adhesions to the underlying cornea, which may involve up to three-fourths of the cornea.

FIG. 1.

Complete cryptophthalmos. Various clinical presentations of complete cryptophthalmos. A, Typical complete cryptophthalmos with total absence of the eyelids, eyebrow, eyebrow hairs, and a centrally located normal sized globe. B, A medially displaced globe with total absence of the eyebrow and eyebrow hairs except laterally. A skin tag is seen lateral to the globe. Note ipsilateral absence of the nasal cavity. C, A failed previous reconstruction attempt in a patient with complete cryptophthalmos showing an enlarged proptotic centrally located globe with total absence of the eyebrow ipsilateral to the defect and a contralateral tongue of hair replacing the eyebrow—underlies the difficulty in managing these patients. A previous cleft lip repair is also seen ipsilateral to the cryptophthalmic eye. Note the contralateral microphthalmic globe. D, CT scan of the same patient showing the globe replaced by a figure-of-eight cystic lesion to which normally sized extraocular muscles are attached posteriorly. Note the widening of the superior orbital fissure and the defect in the greater wing of the sphenoid. (*) This globe did not react to light shown through the skin in contrast to the contralateral microphthalmic globe that showed some reaction to light.

FIG. 4.

Systemic features of Fraser syndrome. A, Digital malformations. Syndactyly of the fingers, which is the most common nonocular feature of Fraser syndrome. B, Ear malformations. Low-set, malformed, and posteriorly rotated ears. C, Musculoskeletal abnormalities. A furrow in the forehead corresponding to a groove in the frontal bone with an overlying abnormal brow hair pattern. Also, note the bifid nose. D, Cerebral malformations. Macrocephaly due to hydrocephalus. Fraser syndrome is compatible with normal cranial development but both microcephaly and macrocephaly have been reported.^, Note contralateral hypoplastic left nostril and microphthalmia. E, Musculoskeletal abnormalities. Talipes varus. F, An abnormal tongue of hair extending from the temple to the eyebrow is not uncommon in Fraser syndrome, and is considered by some authors to be a minor feature of the disease. G, High arched palate. H, Nasal malformations. A broad nose and a depressed broad nasal bridge are common nasal abnormalities in Fraser syndrome and a minor feature of the disease.

FIG. 6.

Facial and palpebral features of the rare syndromic associations of upper eyelid colobomas. A, Manitoba oculotrichoanal syndrome. Features not quite dissimilar from Fraser syndrome with right complete cryptophthalmos and left congenital symblepharon variant, with an abnormal tongue of hair from the eyebrow. B, Ablepharon-macrostomia syndrome. Note that the eyelid deficiency (shortening) that is more commonly microblepharon rather than ablepharon also involves the lower eyelids. Also note the abnormally disfigured right ear and the slightly enlarged mouth. Alopecia or more commonly sparse hair is not an unusual finding. C, Autosomal dominant cryptophthalmos. Note the central horizontal eyelid dimpling which corresponds to the area of eyelid attachment to the globe and absence of eyebrow abnormalities. This is considered a different phenotype with features that are somewhat distinct from the typical findings of CO/FS. D, Nasopalpebral lipoma-coloboma syndrome. Please note the lower eyelid coloboma which is partly concealed by the lipoma. Also note the abnormal brow pattern. Modified with permission from ref.

FIG. 5.

A, Features of Goldenhar syndrome. A rectangular upper eyelid coloboma is seen not attached to the cornea or the bulbar conjunctiva occupying the medial half of the eyelid with an overlying ridge of tissue encroaching on the coloboma. An inferiorly located lipodermoid is also seen. This lipodermoid could be used in reconstruction of the colobomatous eyelid. Also note the repaired cleft lip, and the contralateral anophthalmia and preauricular tags. B, An unusual case of lateral coloboma associated with Goldenhar syndrome. Note the strip of tissue extending from the lipodermoid to the colobomatous eyelid defect.