Flecked chorioretinopathy associated with Birt-Hogg-Dubé syndrome

Graefes Arch Clin Exp Ophthalmol. 1997 Jun;235(6):359-61. doi: 10.1007/BF00937284.


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.

Case reports and methods: 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.

Conclusion: 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.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Choroid Diseases / complications*
  • Choroid Diseases / diagnosis
  • Choroid Diseases / genetics
  • Disease Progression
  • Electroretinography
  • Female
  • Fibroma / complications*
  • Fibroma / diagnosis
  • Fibroma / genetics
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Intestinal Neoplasms / complications*
  • Intestinal Neoplasms / diagnosis
  • Intestinal Neoplasms / genetics
  • Intestinal Polyps / complications*
  • Intestinal Polyps / diagnosis
  • Intestinal Polyps / genetics
  • Male
  • Middle Aged
  • Retinal Diseases / complications*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics
  • Skin Neoplasms / complications*
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics
  • Syndrome
  • Visual Fields