Chronic granulomatous disease presenting as retinal mass.

Published online

Journal Article

1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrotizing granulomatous retinitis. Extensive workup and therapeutic trials failed to confirm the diagnosis of tuberculosis or sarcoidosis. Her 7-month brother and 4-year-old male cousin presented with nystagmus, poor vision, paravascular pigmentary changes and were initially diagnosed as recessive retinal dystrophy. The girl died at age 2 from tuberculous meningitis and the boys had recurrent tuberculous and Aspergillus infections. Awareness of the typical fundus findings in chronic granulomatous disease allows early diagnosis of the disorder.

Full Text

Duke Authors

Cited Authors

  • Mansour, AM; Al Dairy, M; Hamam, R; Hidayat, AA

Published Date

  • October 21, 2008

Published In

Volume / Issue

  • 1 / 1

Start / End Page

  • 257 -

PubMed ID

  • 18939980

Pubmed Central ID

  • 18939980

Electronic International Standard Serial Number (EISSN)

  • 1757-1626

Digital Object Identifier (DOI)

  • 10.1186/1757-1626-1-257


  • eng

Conference Location

  • England