Ocular Morbidity and Visual Outcomes in Rare Craniofacial Clefts: A Contemporary Cohort Study of 102 Cases

Craniofacial clefts are rare congenital anomalies with heterogeneous presentations and significant functional and reconstructive challenges. This study evaluates periorbital pathology, surgical burden, and visual outcomes to inform care strategies for affected patients.

A retrospective cohort study was conducted of patients with rare craniofacial clefts. Clefts were categorized into superior periorbital (Tessier 9-11), inferior periorbital (3-6, 8), superior medial (12-14), inferior medial (0-2), and lateral (7).

Among 102 children, mean age at presentation was 2.0±3.8 years with follow-up 9.6±7.5 years. Thirteen (12.7%) had superior periorbital, 32 (31.4%) had inferior periorbital, 22 (21.6%) had superior medial, 35 (34.3%) had inferior medial, and 44 (43.1%) had lateral clefts. Eighty-two (80.4%) had periorbital abnormalities, including surface pathology (n=41, 40.2%), strabismus (n=26, 25.5%), and nasolacrimal duct obstruction (n=25, 23.5%). Sixty-four (63.3%) subjects underwent 484 periorbital procedures. Poor vision was observed in 39 patients (38.2%) and was associated with a higher number of clefts (2.3 vs 1.6, p=0.002). Inferior periorbital (p=0.004), inferior medial (p=0.023), and globe anomalies (p<0.020), were independent predictors of poor vision. Superior periorbital clefts were associated with ocular surface pathology (p=0.016) but not poor vision after adjusting for confounders.

Over one-third of patients with rare craniofacial clefts experience vision loss. Contrary to traditional assumptions that superior clefts pose the greatest threat to vision, inferior clefts carry a disproportionately high risk of visual impairment. These findings underscore the need for early, cleft-specific ophthalmologic evaluation, coordinated multidisciplinary care, and immediate protective measures to prevent irreversible vision loss and guide reconstructive planning.