Aims: To describe the occurrence of pseudoexfoliation in three Gozitan families.
Methods: Three families with a high incidence of pseudoexfoliation were identified. All members of the three families who agreed to participate were interviewed and underwent a full ophthalmologic examination. The pseudoexfoliation status was classified as present, absent, or unknown.
Results: A total of 55 individuals from three separate family probands and with a male : female sex ratio of 5 : 4 were examined. In all, 18 had definite evidence of pseudoexfoliation, 17 of them bilaterally and one showing only unilateral signs. Age was the main risk factor, with 18 out of the 20 individuals who were over the age of 60 years having pseudoexfoliation, while none of the 35 who were below the age of 60 years had pseudoexfoliation. The ophthalmological findings varied in different families. Family I had a high incidence of both cataract and glaucoma, family II had mainly glaucoma, while in family III all individuals had cataract but none had evidence of glaucoma. The first generation of these three families were deceased but their hospital and clinical records revealed that in all three families the father was affected and there was no evidence of maternal involvement.
Conclusions: In all three families, pseudoexfoliation appeared to be genetically transmitted as a late onset autosomal dominant trait of variable expression. Maternal transmission could not be confirmed in these families.