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Complex Epibulbar and Corneal Choristomas in Mosaic RASopathies.

Saipriya Potluri1,2,3, Brian Grodecki1,3,4, Hannah Scanga1,3,5

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|November 6, 2025
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Ocular choristomas in mosaic RASopathies often present with conjunctival and scleral extension. Early recognition and complex management, including anti-VEGF therapy and corneal transplantation, are crucial for these patients.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Mosaic RASopathies are genetic conditions with varied clinical presentations.
  • Ocular choristomas are rare congenital tumors that can affect vision.
  • Understanding the link between RASopathies and ocular manifestations is critical for diagnosis and management.

Purpose of the Study:

  • To characterize the clinical features of ocular choristomas in patients with mosaic RASopathies.
  • To detail the management strategies employed for these complex cases.
  • To improve diagnostic awareness of mosaic RASopathies based on ocular findings.

Main Methods:

  • Retrospective single-center case review of patients diagnosed with mosaic RASopathies.
  • Comprehensive analysis of ocular imaging, including operative microscopy, slit-lamp, and OCT.
  • Molecular confirmation of pathogenic variants in relevant genes.

Main Results:

  • Nine patients with mosaic RASopathies (including Linear Sebaceous Nevus Syndrome, Oculoectodermal Syndrome, and Encephalocraniocutaneous Lipomatosis) were evaluated.
  • Fourteen eyes exhibited ocular choristomas, often flat, highly vascularized, and extending into the conjunctiva and sclera.
  • Pathogenic KRAS gene variants were identified in 6 of 6 molecularly confirmed cases.

Conclusions:

  • Ocular choristomas with conjunctival/scleral extension and corneal vascularization suggest mosaic RASopathy.
  • Management is complex, involving optical iridectomy, anti-VEGF therapy, refractive correction, and potentially corneal transplantation.
  • These findings highlight the importance of ophthalmological evaluation in diagnosing and managing mosaic RASopathies.