title: Flecked chorioretinopathy associated with Birt-Hogg-Dubé syndrome.
abstract: BACKGROUND
  Birt-Hogg-Dubé's syndrome is a rare skin disease characterized by multiple trichofibromas of the skin and polyps of the intestine. Ophthalmologic manifestations associated with the syndrome have not been reported in detail.
  Two siblings suffering from Birt-Hogg-Dubé syndrome were examined clinically. Electrooculography and electroretinography were performed according to international standards. Color fundus photographs were taken as well as fluorescein angiograms. The two patients showed multiple perifollicular fibromas and trichodiscomas of the skin of the head. Funduscopy and fluorescein angiography revealed a flecked chorioretinopathy in one patient with progressive constriction of visual fields and severely reduced electroretinographic responses. Ophthalmoscopy in his sister showed peripheral pigmentary changes with only minor functional abnormalities.
  
  
  CONCLUSIONS
  These findings suggest that Birt-Hogg-Dubé syndrome may be associated with a progressive flecked chorioretinopathy with constricted visual fields and that patients with the syndrome should undergo ophthalmological examination.
authors.affiliation: Department of Ophthalmology, University of Cologne, Germany. aia08@uni-koeln.de
authors.forename: P
authors.initials: P
authors.lastname: Walter
authors.forename: B
authors.initials: B
authors.lastname: Kirchhof
authors.forename: B
authors.initials: B
authors.lastname: Korge
authors.forename: K
authors.initials: K
authors.lastname: Heimann
mesh_terms: D000368:Aged; D015862:Choroid Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D005350:Fibroma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007414:Intestinal Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D007417:Intestinal Polyps / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012878:Skin Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014794:Visual Fields