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Ocular Morbidity And Visual Outcomes In Rare Craniofacial Clefts: A Contemporary Cohort Study Of 102 Cases
Allison C. Hu, MD, Jinggang J. Ng, MD MA, Anny Zhong, BS, Benjamin B. Massenburg, MD, Matthew E. Pontell, MD, Philip D. Tolley, MD, William R. Katowitz, MD, Jordan W. Swanson, MD MSc, Gil Binenbaum, MD, Scott P. Bartlett, MD, Jesse A. Taylor, MD.
Children's Hospital of Philadelphia, Philadelphia, PA, USA.
PURPOSE: Craniofacial clefts are rare congenital anomalies presenting with heterogeneous morphology and complex functional and reconstructive challenges. This study characterizes periorbital pathology, surgical burden, and visual outcomes to inform care strategies for affected patients.
METHODS: A retrospective cohort study of patients with rare craniofacial clefts was performed. Clefts were categorized as superior periorbital (Tessier 9-11), inferior periorbital (3-6, 8), superior medial (12-14), inferior medial (0-2), and lateral (7).
RESULTS: Among 102 children, mean age at presentation was 2.0±3.8 years, with mean follow-up of 9.6±7.5 years. Thirteen (12.7%) had superior periorbital, 32 (31.4%) inferior periorbital, 22 (21.6%) superior medial, 35 (34.3%) inferior medial, and 44 (43.1%) lateral clefts. Eighty-two (80.4%) demonstrated one or more periorbital abnormalities, including surface pathology (40.2%), strabismus (25.5%), and nasolacrimal duct obstruction (23.5%). Sixty-four (63.3%) underwent 484 periorbital procedures. Poor vision occurred in 39 (38.2%) and correlated with a higher cleft count (2.3 vs 1.6, p=0.002). Inferior periorbital (p=0.004), inferior medial (p=0.023), and globe anomalies (p<0.020) independently predicted poor vision. Superior periorbital clefts were associated with ocular surface pathology (p=0.016) but not visual loss after adjustment.
CONCLUSION: Over one-third of patients with rare craniofacial clefts experience visual impairment. Contrary to traditional assumptions emphasizing superior clefts, inferior variants carry greater visual risk. Early, cleft-specific ophthalmologic assessment and coordinated multidisciplinary management are essential to prevent irreversible vision loss and optimize reconstructive outcomes.
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