Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

Chi Chao Chan, Christian A. Koch, Muriel I. Kaiser-Kupfer, Dilys M. Parry, David H. Gutmann, Zhengping Zhuang, Alexander O. Vortmeyer

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

Individuals affected with the neurofibromatosis 2 (NF2) cancer predisposition syndrome develop specific ocular lesions. To determine whether these lesions result from altered NF2 gene expression, microdissection and PCR were used to investigate 40 ocular lesions from seven eyes of four NF2 patients for LOH, with markers that flank the NF2 gene on chromosome 22q. NF2 protein (merlin) expression was also evaluated in these lesions, using immunohistochemistry. Retinal hamartoma was observed in all seven eyes, including one with combined pigment epithelial and retinal hamartoma (CPERH). Retinal tufts were present in four eyes (three patients), retinal dysplasia in two eyes (two patients), optic nerve neurofibroma in one eye, iris naevoid hyperplasia in two eyes (two patients) and pseudophakia in all eyes. Markers were informative in three patients (six eyes from three unrelated families). One patient was non-informative due to prolonged decalcification. All retinal and optic nerve, but not iris lesions, demonstrated consistent LOH for the NF2 gene. Merlin was not expressed in the retina, optic nerve, or iris lesions. These results suggest that inactivation of the NF2 gene is associated with the formation of a variety of retinal and optic nerve lesions in NF2 patients.

Original languageEnglish (US)
Pages (from-to)14-20
Number of pages7
JournalJournal of Pathology
Volume198
Issue number1
DOIs
StatePublished - Sep 2002
Externally publishedYes

Keywords

  • Hamartoma
  • Lisch nodule
  • Loss of heterozygosity
  • Merlin
  • Neurofibromatosis 2
  • Optic nerve glioma
  • Retina
  • Retinal dysplasia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Fingerprint Dive into the research topics of 'Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2'. Together they form a unique fingerprint.

  • Cite this