Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population

Abstract

ABSTRACT Purpose 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.