Developmental Anomalies 231 Coloboma Definition

A normally unilateral triangular eyelid defect with its base at the margin of the eyelid occurring most often in the upper eyelid (Fig. 2.3).

Epidemiology and etiology. Colobomas are rare defects resulting from a reduction malformation (defective closure of the optic cup). They are only rarely the result of an injury.

Diagnostic considerations: The disorder is often accompanied by additional deformities such as dermoid cysts or a microphthalmos. Congenital defects of the first embryonic branchial arch that can result in coloboma include Franceschetti's syndrome (mandibulofacial dysostosis) or Goldenhar's syndrome (oculoauriculovertebral dysplasia). Depending on the extent of the coloboma, desiccation symptoms on the conjunctiva and cornea with incipient ulceration may arise from the lack of regular and uniform moistening of the conjunctiva and cornea.

2.3 Developmental Anomalies 21

— Congenital coloboma.

— Congenital coloboma.

Congenital Coloboma

Fig. 2.3 The triangular eyelid defect with its base at the margin of the eyelid results from a reduction malformation during closure of the optic cup in the embryonic stage.

Fig. 2.3 The triangular eyelid defect with its base at the margin of the eyelid results from a reduction malformation during closure of the optic cup in the embryonic stage.

Treatment: Defects are closed by direct approximation or plastic surgery with a skin flap.

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