Complex Epibulbar and Corneal Choristomas in Mosaic RASopathies.
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PURPOSE: To describe the clinical features and management of ocular choristomas in mosaic RASopathy patients. METHODS: We performed a retrospective single-center case review of all mosaic RASopathy patients. We evaluated for the presence of corneal and epibulbar choristomas and conducted a comprehensive analysis of the imaging, including operative microscope images, slitlamp images, and optical coherence tomography images. In doing so, we provide a precise description for these types of choristomas. RESULTS: Nine patients with mosaic RASopathies, 7 men and 2 women (3 with clinical diagnoses of Linear Sebaceous Nevus Syndrome, 5 with Oculoectodermal Syndrome, and 1 with Encephalocraniocutaneous Lipomatosis), were evaluated. Fourteen eyes with ocular choristomas were identified among the 9 patients-bilaterally in 5 and unilaterally in 4. Molecular confirmation was available in 6 cases, and pathogenic variants in the KRAS gene were identified in all 6. None of the choristomas presented as discrete raised lesions at the limbus alone; they were all relatively flat, very vascularized, and in 4 of the 14 eyes, there was involvement of the visual axis, with 6 having extension with vascularization onto the cornea. All of them extended into the conjunctiva and into the sclera posteriorly. CONCLUSIONS: Ocular choristomas with conjunctival and scleral extension, often with concomitant corneal vessels, should alert the clinician to the possibility of a mosaic RASopathy. Management can be complicated and includes measures such as optical iridectomy, anti-VEGF injections, and refractive correction with occlusion therapy, and corneal transplantation may also be considered.