OBJECTIVE: To study the clinical features, histopathology, and management of congenital upper eyelid coloboma (CEC) in the Saudi population.
METHODS: A retrospective review of health records evaluated the demographics, histopathology, and surgical outcomes of patients with CEC.
RESULTS: Thirty-nine eyelids of 27 patients were included in this study. CEC was bilateral in 12 (44.4%) patients, isolated in 17 (62.9%), and as part of a syndrome in 10 (37.1%) patients. CEC was commonly located in the medial upper lid (22 lids, 56.4%) and mostly involved the full thickness of the lid (27 lids, 69.2%). Corneal adhesion (18 eyes, 46.1%) and poorly formed eyebrows (21 eyebrows, 53.8%) were the most common ocular/adnexa associations. Histopathology was similar in all cases and the main features were scarred dermis, atrophic orbicularis oculi, and atrophic or absent tarsus. Visual acuity at the final follow-up was 20/50 or better in 13 (33.3%) eyes. Complete lid closure without lagophthalmos after one or more surgical procedures was achieved in 11 (40.7%) cases.
CONCLUSIONS: CEC features in Saudi patients are similar to those described in the literature. Dermal scarring and defective orbicularis muscles are common. Achieving cosmetic and functional success after management remains challenging.