Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma

Sarah W. DeParis, Michele Bloomer, Ying Han, M. Reza Vagefi, Joseph T.C. Shieh, David A. Solomon, James Grenert, Alejandra G. De Alba Campomanes

Research output: Contribution to journalArticlepeer-review


Purpose: Uveal ganglioneuroma is a rare tumor that usually occurs in association with neurofibromatosis type 1. Here, we present a rare case of a uveal ganglioneuroma leading to a diagnosis of the tumor predisposition condition Cowden syndrome. Procedures: A 5-year-old girl with unilateral refractory glaucoma secondary to diffuse iris and choroidal thickening developed a blind, painful eye. Enucleation was performed, and histopathology revealed infiltration of the entire uveal tract by neoplastic spindle cells containing admixed ganglion cells diagnostic of uveal ganglioneuroma. Targeted next-generation sequencing of 510 cancer-associated genes was performed on tumor tissue and peripheral blood. Results: A germline nonsense mutation in the PTEN gene was found, accompanied by loss of heterozygosity in the tumor. A diagnosis of Cowden syndrome was made, for which the family sought genetic counseling and initiated the recommended cancer screening. Conclusions: A novel association is found between uveal ganglioneuroma and Cowden syndrome, emphasizing the value of genetic tissue testing in managing patients with rare ocular tumors.

Original languageEnglish (US)
Pages (from-to)122-128
Number of pages7
JournalOcular Oncology and Pathology
Issue number2
StatePublished - Jul 1 2017


  • Cowden syndrome
  • Ocular oncology
  • PTEN mutation
  • Uveal ganglioneuroma

ASJC Scopus subject areas

  • Nursing(all)


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