Microblepharon results from faulty eyelid embryogenesis where the eyelid fold development is disrupted resulting in a number of eyelid anomalies. Anomalies can range from complete absence of the lids to nearly normal but short eyelids.⁶ Microblepharon is the mildest form of this faulty development and has been described in association with ablepharon-macrostomia syndrome,⁴ Barber-Say syndrome,⁷ and trisomy 21 (Down syndrome)² or as an isolated unilateral finding.⁴

Microblepharon is characterized by a vertical shortage of upper and lower eyelid skin resulting in various degrees of lagophthalmos, scleral show, and corneal exposure, depending on the severity of the defect (Figures 39.1, 39.2, 39.3). Affected individuals may show a variable degree of shortened anterior lamella with a well-formed mucocutaneous junction at the upper as well as the lower eyelid margins.³,⁴ In milder cases (Figure 39.1), the vertical extent of the upper eyelid skin from the eyebrows to the eyelashes is moderately reduced³ and the diagnosis may be elicited only by asking the child to look down (Figure 39.2), but in more severe cases (Figure 39.3) there is marked anterior lamellar shortening and the upper eyelid margin is very close to the eyebrows with sparse or absent eyelashes.⁴,⁸ Severe cases may suffer from constant lagophthalmos even when asked to voluntarily close the eyelids, whereas milder cases may only suffer from lagophthalmos during sleep but not during voluntary closure.³,⁴ Patients with mild to moderate shortening may present later in life with minimal or no exposure symptoms, whereas neonates with severe microblepharon may even be born with corneal exposure, which may proceed very rapidly to corneal opacification.³,⁴,⁹