Morphologic and genetic analysis of retinal angioma associated with massive gliosis in a patient with von Hippel-Lindau disease

Alexander O. Vortmeyer, Chi Chao Chan, Emily Y. Chew, Dawn M. Matteson, De F. Shen, Axel Wellmann, Robert Weil, Zhengping Zhuang

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

We report morphologic and genetic analysis of bilateral retinal angiomas in a 35-year-old patient with von Hippel-Lindau (VHL) disease. Enucleation of both eyes revealed extensive intraocular tumor. Whereas the right eye demonstrated large amounts of retinal angioma tissue, the left eye showed small areas of retinal angioma associated with massive diffuse retinal gliosis. Genetic analysis of the angioma showed allelic deletion of the VHL gene locus, suggesting that the origin of the angiomas was directly related to the patient's underlying VHL disease. Genetic analysis of the pleomorphic glial proliferation showed no allelic VHL gene deletion, which is consistent with the assessment that the glial component represents a reactive process. Apoptosis detected by TUNEL revealed lack of DNA fragmentation in the angioma; in contrast, many positive signals were found in the massive gliosis. We confirmed that the abnormal VHL genes were located in the 'stromal' cells of the retinal angioma. Massive gliosis in VHL disease is a true reactive retinal gliosis.

Original languageEnglish (US)
Pages (from-to)513-517
Number of pages5
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Volume237
Issue number6
DOIs
StatePublished - Jun 1999

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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