Early diagnosis of exfoliation syndrome in the offspring of affected patients.
OBJECTIVE
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.


CONCLUSIONS
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.
Oliveira
Cristiano
C
Department of Ophthalmology, New York Eye and Ear Infirmary, New York, New York 10003, USA.
Schlötzer-Schrehardt
Ursula
U
Vieira
Geraldo
G
Liebmann
Jeffrey
J
Ritch
Robert
R
D000328:Adult; D032721:Adult Children; D000368:Aged; D001706:Biopsy; D003228:Conjunctiva / Q000648:ultrastructure*; D017889:Exfoliation Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005901:Glaucoma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family