The term coloboma derives from a Greek word “koloboma,” which means mutilated or curtailed or a hole or a defect in tissue. An eyelid coloboma is a congenital full-thickness defect of the eyelid margin seen in about 1 in 10000 births and may also involve different structures of the eye: eyelids, iris, lens, ciliary body, choroid, retina, or optic nerve.
Congenital eyelid coloboma is can be unilateral or bilateral, involving one or all four lids. The defect may vary from a small marginal notch to a full-thickness absence of the entire eyelid margin involving one third to half of the eyelid. Usually, the upper eyelid is commonly affected, and the most common site is the junction between the medial and middle third of the upper eyelid. Eyelid colobomas represent an incomplete form of cryptophthalmos. Cryptophthalmos is a congenital condition in which there is a failure of differentiation of eyelid structures, and the skin passes uninterrupted from the forehead to the cheek.
The exact cause is unknown but is said to be a form of facial cleft. Many intrauterine factors such as amniotic band, inflammation, decreased placental circulation, mechanical influences, and abnormal vascular system have been hypothesized, but all remain unproven. An eyelid coloboma is a constant feature of Treacher Collins syndrome, which is autosomal dominant with variable penetrance and expressivity. It results from a malformation of derivatives of first and second branchial arches.
Eyelid colobomas can be an isolated finding or can be associated with various syndromes mentioned below:
Eyelid coloboma has no predilection for sex or age. It has no race predilection expect for Manitoba oculotrichoanal syndrome, which occurs in the aboriginal population of northern Manitoba. Findings include unilateral eyelid coloboma or cryptophthalmos with aberrant anterior hairline pattern and anal atresia/stenosis.
Colobomas of the eyelid are rare and are associated with systemic and ocular abnormalities. Associated ocular abnormalities include dermoid, lipo-dermoid, keratoconus, coloboma of the iris, and micro-ophthalmia. The classic congenital upper eyelid defect includes a shortage of conjunctiva, tarsal plate, orbicularis oculi muscle, and skin. In addition to causing a cosmetic blemish, the defect leaves the cornea exposed, leading to exposure keratopathy and secondary bacterial infections. Also, the visual axis can be blocked, leading to amblyopia. Strabismus is also commonly found due to the presence of high refractive errors or opacities in ocular media.
Eyelid colobomas fall under the group of facial clefts disorders. The spectrum can extend from a complete cryptophthalmos to a small notch in the lid margin. Nouby, in a case review, has graded eyelid coloboma with cryptophthalmos into 5 Grades, grade 1 being the mildest (coloboma alone), and Grade 5 being the severe form (severe cryptophthalmos with nose and lip deformity).
In addition to clinical eye and whole-body examination, the following investigations ( subject to fitness and contraindications for the investigations) would help detect other systemic deformities:
Medical management: Corneal protection and amblyopia management is the primary goal in medical treatment. Artificial tears and ointment, moist chamber optical bandages, and bedtime patching will help protect the cornea. Arrange for an interprofessional evaluation to rule out systemic deformities. Amblyopia should be anticipated in all patients with lid coloboma, as astigmatism is common. Epibulbar dermoids seen in Goldenhar syndrome induce astigmatism and can obstruct the pupillary axis and can cause amblyopia.
Surgical management: The surgical technique and timing of the surgery depend upon the size of the defect and the presence of corneal exposure and the general well-being of the infant in terms of fitness for general anesthesia. If the defect is small with no corneal exposure or obstruction of the visual axis, the surgery can be delayed until 3 or 4 years of age. Moreover, there could be contraindications for general anesthesia due to defects in the palate or poor general conditions to thrive. Defects are graded as small (less than 25% of the length of lid margin), moderate ( 25 to 50 % defect), and severe ( more than 50%). In severe defects, both cosmetic and functional results are difficult to obtain.
Surgical management of eyelid colobomas are as follows:
1) Upper eyelid reconstruction
Small defects: Direct appositional closure, direct appositional closure with lateral cantholysis, direct appositional closure with Tenzel’s semicircular flap
Moderate defects: Direct appositional closure with Tenzel’s semicircular flap Mustarde’s lid switch flap and Cutler-Beard reconstruction
Severe defects: Cutler Beard Method and Mustarde’s lid switch flap
2) Lower eyelid reconstruction
Small defects: same as upper eyelids
Prognosis is good for small and moderate defects both in terms of anatomical reconstruction of the defect and functionality of the lid. In severe defects, it may be difficult to achieve a good cosmetic effect. Moreover, the associated astigmatism and eye coverage in lid sharing surgeries could cause amblyopia.
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