Huge peripapillary staphyloma with craniofacial clefts: A case report.

Purpose: We reported the occurrence of a congenital unilateral huge peripapillary staphyloma in association with craniofacial clefts for the first time.

Case Report: A 1-year-old boy presented with a large defect on his left eyelid, a wide oblique columella nasi and an atypical wedge-shaped extension of the unilateral anterior hairline. Magnetic resonance imaging (MRI) examinations revealed there were cracks on his nasal septum, palate, and superior alveolar midline. Moreover, we surprisingly uncovered a gourd-shaped eyeball with the compressed optic nerve on the right side, while the right eye seemed normal from appearance. Under anaesthesia, fundus examination of the right eye showed a 15 mm-deep excavation surrounding the optic disc with defective choroid and dysplastic optic papilla. We reconstructed the left eyelid of the patient to protect his cornea and would make other solutions according to the results of follow-up.

Conclusion: Peripapillary staphyloma and craniofacial clefts are two dissimilar rare congenital anomalies. In this patient, we firstly observed the co-existence of the two defects, which may provide the experience to the diagnosis and treatment of peripapillary staphyloma and craniofacial clefts. This case also gives us the pathogenic inspiration for further studies of peripapillary staphyloma and craniofacial clefts.