Early diagnosis of exfoliation syndrome in the offspring of affected patients

Acta Ophthalmol Scand. 2006 Aug;84(4):512-5. doi: 10.1111/j.1600-0420.2006.00670.x.


Purpose: To determine whether conjunctival biopsy in the offspring of patients with exfoliation syndrome (XFS) can provide early diagnosis of the disease.

Methods: Patients with XFS with or without glaucoma were invited to ask their sons and daughters over the age of 40 years to participate in the study. After a complete eye examination, those without clinically evident XFS underwent conjunctival biopsy. The specimens were examined by transmission electron microscopy.

Results: A total of 17 sons and daughters (seven men, 10 women) of 17 patients were enrolled. Their mean age was 50.3 +/- 8 years. Twelve specimens were negative and five presented precursor material evidence of typical exfoliation material.

Conclusion: Evidence of early deposition of exfoliation material can be found in the conjunctiva of the middle-aged offspring of patients with XFS, substantiating the existence of a hereditary predisposition to this disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Adult Children*
  • Aged
  • Biopsy
  • Conjunctiva / ultrastructure*
  • Exfoliation Syndrome / diagnosis*
  • Exfoliation Syndrome / genetics
  • Female
  • Genetic Predisposition to Disease
  • Glaucoma / diagnosis*
  • Glaucoma / genetics
  • Humans
  • Male
  • Middle Aged
  • Nuclear Family