title: Molecular identification of bacterial DNA in the chorioretinal scars of chronic granulomatous disease.
abstract: OBJECTIVE
  Chronic granulomatous disease (CGD) is an inherited disorder characterized by defects in phagocyte-derived nicotinamide adenine dinucleotide phosphate oxidase. It is typically diagnosed in childhood and leads to severe, recurrent bacterial or fungal infections. Chorioretinal lesions are the most common ocular manifestation. We sought to determine whether there are infectious agents in CGD-associated chorioretinopathy.
  
  
  METHODS
  Medical records and ocular histopathology from CGD cases from January 1983 to January 2012 at the National Institutes of Health were retrospectively reviewed. Chorioretinal cells from normal and lesional tissues of the same eye were microdissected. Primers for Staphylococcus epidermidis, Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia sp., and a panbacterial 16S ribosomal DNA were used for polymerase chain reaction.
  
  
  RESULTS
  Seventeen CGD patients had ocular tissues (16 autopsied cases and 1 chorioretinal biopsy) examined. Of these 17, 8 demonstrated CGD-associated chorioretinal lesions in at least one eye on histopathology. Of these 8, 7 showed amplification of 16S ribosomal DNA within the lesion; of these 7, two also amplified S. epidermidis and one P. aeruginosa. One had no bacterial DNA amplified. Importantly, no microbial DNA was amplified from the normal, non-lesional ocular tissues of these 8 cases. Furthermore, only 1 of the 9 eyes without chorioretinopathy had amplified Burkholderia DNA, that patient had a history of Burkholderia infection.
  
  
  CONCLUSIONS
  We detected bacterial DNA in 7 of 8 (88%) cases with CGD-associated chorioretinopathy and only in 1 normal ocular tissue of 17 CGD cases. Bacterial infection may play a role in the pathogenesis of CGD-associated chorioretinal lesions.
authors: Immunopathology Section, Laboratory of Immunology, National Eye Institute, National Institutes of Health, 10 Center Dr., 10/10N103, NIH/NEI, Bethesda, MD 20892-1857, USA.
authors: Yujuan
authors: Y
authors: Wang
authors: Beatriz E
authors: BE
authors: Marciano
authors: Defen
authors: D
authors: Shen
authors: Rachel J
authors: RJ
authors: Bishop
authors: Stanley
authors: S
authors: Park
authors: Steven M
authors: SM
authors: Holland
authors: Chi-Chao
authors: CC
authors: Chan
mesh_terms: D001424:Bacterial Infections / Q000382:microbiology*; D002648:Child; D002675:Child, Preschool; D015862:Choroid Diseases / Q000175:diagnosis / Q000382:microbiology*; D004269:DNA, Bacterial / Q000235:genetics*; D004275:DNA, Ribosomal / Q000235:genetics; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000382:microbiology*; D006801:Humans; D007223:Infant; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis / Q000382:microbiology*; D012189:Retrospective Studies
chemical_list: D004269:DNA, Bacterial; D004275:DNA, Ribosomal
references: Retina. 1988;8(4):270-4
references: 3231919
references: Clin Infect Dis. 2004 Sep 1;39(5):692-9
references: 15356785
references: N Engl J Med. 2010 Dec 30;363(27):2600-10
references: 21190454
references: Jpn J Ophthalmol. 2006 May-Jun;50(3):287-9
references: 16767389
references: Clin Rev Allergy Immunol. 2010 Feb;38(1):3-10
references: 19504359
references: J Clin Invest. 1990 Nov;86(5):1729-37
references: 2243141
references: Minn Med. 1957 May;40(5):309-12
references: 13430573
references: Medicine (Baltimore). 1998 Sep;77(5):345-54
references: 9772923
references: Immunol Rev. 1994 Apr;138:121-57
references: 8070813
references: J Clin Pathol. 2008 Nov;61(11):1229-30
references: 18755713
references: Br J Ophthalmol. 2006 Apr;90(4):514-5
references: 16547340
references: J AAPOS. 2009 Aug;13(4):396-9
references: 19683193
references: PLoS One. 2009;4(4):e5234
references: 19381301
references: Am J Ophthalmol. 1995 Jul;120(1):120-3
references: 7611321
references: Trans Am Ophthalmol Soc. 1971;69:84-112
references: 5154273
references: Ophthalmology. 1998 Sep;105(9):1664-9
references: 9754175
references: Am J Ophthalmol. 1983 Dec;96(6):810-2
references: 6660273
references: Clin Immunol. 2008 Feb;126(2):155-64
references: 18037347
references: Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65
references: 20729109
references: Medicine (Baltimore). 2000 May;79(3):155-69
references: 10844935
references: Biol Blood Marrow Transplant. 2011 Jan;17(1 Suppl):S123-31
references: 21195301
references: Cases J. 2008 Oct 21;1(1):257
references: 18939980
references: Pediatrics. 2006 Mar;117(3):e590-5
references: 16452321
references: Retina. 2003 Jun;23(3):360-5
references: 12824837
references: Am J Pathol. 1995 Mar;146(3):620-5
references: 7887444
references: AMA J Dis Child. 1959 Apr;97(4):387-408
references: 13636694
references: Pediatrics. 1965 Mar;35:405-12
references: 14258653
references: Am J Hum Genet. 1990 Sep;47(3):483-92
references: 2393022
references: Pediatrics. 2004 Aug;114(2):462-8
references: 15286231
references: J Pediatr. 1999 Jun;134(6):780-3
references: 10356152
references: Immunodeficiency. 1993;4(1-4):289-301
references: 8167720
references: Clin Infect Dis. 2010 Dec 15;51(12):1429-34
references: 21058909
references: Lancet. 1969 Aug 16;2(7616):344-7
references: 4183973
references: Trans Am Ophthalmol Soc. 2003;101:275-92
references: 14971583
references: Am J Ophthalmol. 1983 May;95(5):598-604
references: 6846453