Early diagnosis of exfoliation syndrome in the offspring of affected patients

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 examinations 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.