Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2

Elizabeth A. Grant, Karmen M. Trzupek, Jacob Reiss, Kate Crow, Ludwine Messiaen, Richard G. Weleber

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Purpose: To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE). Methods: Retrospective observational case reports. Results: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 cafe au lait spots, was diagnosed with neurofibromatosis type 1 (NF1). By the age of 5, he had developed bilateral vestibular schwannomas, and was diagnosed with NF2. Subsequent molecular testing revealed a truncating mutation in exon 13 (c.1396C > T; p.R466X) of the NF2 gene. Patient two presented to ophthalmology at the age of 7 months; by age 6 she had developed two subcutaneous masses on her forehead, a mass in her left lower abdomen, and in her gumline. Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood. Conclusions: Bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE) in a young child should alert the clinician to the possibility of neurofibromatosis type 2. The recognition of this rare finding as a presenting feature of NF2 can lead to earlier diagnosis, which is vital to appropriate surveillance and possible surgical intervention.

Original languageEnglish (US)
Pages (from-to)133-138
Number of pages6
JournalOphthalmic Genetics
Volume29
Issue number3
DOIs
StatePublished - Sep 2008

Keywords

  • Genotype
  • Hamartoma
  • Neurilemmoma
  • Neurofibromatoses
  • Neurofibromatosis 2
  • Phenotype
  • Retina
  • Schwannoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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