Abstract
A retrospective cohort study of cases with tissue diagnosis of epibulbar choristoma in 2 centers presenting during the period: 2000–2016 with focus on cases of complex and osseous choristoma. Demographic and clinical data were collected by the resident from medical records. The histopathological slides were reviewed by 2 pathologists and cases of complex and osseous choristoma were analyzed by biostatical staff.
120 epibulbar choristomas were identified. 13/120 patients (10.8%) with complex choristoma and 2/120 patients (1.7%) with osseous choristoma. 15 cases were further analyzed: 7 were males and 8 were females. Mean age at presentation was 7.6 year. Commonest location was temporal in 66.6%. The presence of smooth muscle component was associated with a larger size choristoma (p = 0.042). 73.3% had other ophthalmic manifestations (mostly eyelid anomalies) while 9 systemic associations (mostly Goldenhar's syndrome) were found in 8/13 cases of complex choristoma.
Epibulbar complex and osseous choristomas are rare. Histopathologically, the presence of smooth muscle significantly correlates with the lesion size. Complex choristoma is more likely to be associated with systemic manifestations. Further genetic studies for this condition are recommended.
•Choristomas are congenital tumors that may affect the epibulbar area.•They arise from ectopic pluripotent cells differentiating into simple or complex choristoma.•We present our cases to highlight interesting ophthalmic and/or systemic associations.•This might open the door for future molecular genetic testing.•Significant association is found between smooth muscle component and larger size choristoma.