title: Chorioretinal lesions in patients and carriers of chronic granulomatous disease.
abstract: OBJECTIVE
  To investigate the frequency of retinal lesions in patients with chronic granulomatous disease (CGD) and to seek such lesions in carriers.
  
  
  METHODS
  Seventy-four individuals from 33 families were recruited; 38 had CGD (30 X-linked and 8 autosomal recessive inheritance). All participants (including 33 control subjects) underwent measurement of visual acuity, anterior segment examination by slit lamp, and dilated funduscopy.
  
  
  RESULTS
  Nine of 38 (23.7%) of the affected children had chorioretinal lesions compared with 0 of 33 control subjects. All 9 were known to have X-linked CGD and absent gp91(phox). The "typical" retinal abnormality consisted of "punched out" chorioretinal lesions associated with pigment clumping lying along major retinal vessels. Unexpectedly, 3 XL-CGD asymptomatic carriers also had typical chorioretinal lesions.
  
  
  CONCLUSIONS
  Retinal lesions are relatively common in patients with XL-CGD and may interfere with vision and thus should be sought in such patients.
authors.affiliation: Immunobiology Unit and Molecular Immunology Units, Institute of Child Health, The Great Ormond Street Children's Hospital, London, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Goldblatt
authors.forename: J
authors.initials: J
authors.lastname: Butcher
authors.forename: A J
authors.initials: AJ
authors.lastname: Thrasher
authors.forename: I
authors.initials: I
authors.lastname: Russell-Eggitt
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D002825:Chorioretinitis / Q000235:genetics; D002829:Choroid / Q000473:pathology*; D005260:Female; D005820:Genetic Testing; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; D012160:Retina / Q000473:pathology*
chemical_list: D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases