Lacrimal Gland Choristoma and Associated Ocular Anomalies

Lacrimal gland (LG) choristomas are ectopically located lacrimal gland tissue that present as mass lesions, and their diagnosis is confirmed by histopathology. The current study reviews cases of lacrimal gland choristoma published between 2016 and 2025 and reports a rare case of bilateral epibulbar lacrimal gland choristoma associated with a limbal dermoid and ocular colobomatous anomalies in a young female. LG choristomas have been reported in the conjunctiva, eyelid, orbit, lacrimal drainage system, and intraocular structures. They can be simple or have associated syndromic presentations such as Goldenhar syndrome, linear nevus sebaceous syndrome, epidermal nevus syndrome, and craniofacial microsomia. Molecular studies in syndromic cases demonstrated postzygotic somatic mutations in HRAS, KRAS, and NRAS, affecting the RAS-MAPK signaling pathway. Histopathology demonstrated mature lacrimal gland acini and ductal structures within fibrofatty stroma. Whole-exome sequencing did not identify pathogenic mutations associated with choristoma syndromes, ectodermal dysgenesis, or neuroectodermal developmental disorders.