title: Ocular manifestations in chronic granulomatous disease in Saudi Arabia.
abstract: BACKGROUND
  Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic cells. Recent reports indicate that chorioretinal lesions are more common than previously suspected. In this study, ocular findings of CGD patients are described with particular emphasis on chorioretinal lesions as a potentially serious ocular complication of CGD.
  
  
  METHODS
  Medical records of CGD patients attending an immunodeficiency clinic at a tertiary care center from January 2004 to December 2006 were reviewed. Patients underwent full ophthalmologic examination. Patients with chorioretinal lesions were investigated for various causes of chorioretinitis. Molecular studies for common CGD-causing genes were performed in patients with chorioretinal lesions.
  
  
  RESULTS
  This cohort included 32 CGD patients: 14 (44%) had abnormal eye findings, 11 (34%) had anterior segment disease, and 4 (12.5%) had chorioretinal lesions. Posterior segment findings consisted of uniformly similar hypopigmented atrophic punched-out chorioretinal scars around the arcades and mid-equator sparing of the macula. One patient had exudative hemorrhagic total retinal detachment in the right eye. Two siblings with chorioretinal lesions had mutation in CYBB, an X-linked gene. Another patient carried a missense mutation in NCF2, causing autosomal-recessive disease.
  
  
  CONCLUSIONS
  While ocular manifestation is common in CGD, chorioretinal lesions seem less frequent. However, they present potential risk of visual loss; it is recommended that patients undergo regular ophthalmologic examinations. This report provides further evidence that chorioretinal lesions occur not only in X-linked, but they can also occur in the autosomal-recessive form of CGD.
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. smohsen@kfshrc.edu.sa
authors.forename: Saleh
authors.initials: S
authors.lastname: Al-Muhsen
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Hemidan
authors.forename: Amer
authors.initials: A
authors.lastname: Al-Shehri
authors.forename: Abdullah
authors.initials: A
authors.lastname: Al-Harbi
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al-Ghonaium
authors.forename: Bandar
authors.initials: B
authors.lastname: Al-Saud
authors.forename: Hamoud
authors.initials: H
authors.lastname: Al-Mousa
authors.forename: Hasan
authors.initials: H
authors.lastname: Al-Dhekri
authors.forename: Rand
authors.initials: R
authors.lastname: Arnaout
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Al-Mohsen
authors.forename: Osama
authors.initials: O
authors.lastname: Alsmadi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002825:Chorioretinitis / Q000209:etiology*; D003241:Consanguinity; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D012529:Saudi Arabia
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; C527764:NCF2 protein, human