| Sub-title | |
| Author | F Mercieca |
| Abstract | Aims: To describe the familial occurrence of pseudoexfoliation in three Gozitan families Methods: Three families with a high concordance for 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: 53 individuals from three separate family probands were examined. 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 33 who were below the age of 60 had pseudoexfoliation. The male: female sex ratio was as 5:4. The expression of the disease 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 in all three of these families were deceased but their hospital and clinic 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 expressivity. Maternal transmission could not be confirmed in these families. |
Published in: | |
| Journal | Malta Medical Journal |
| Volume | 15 Issue 1-2/suppl. 2003 |
| Pages | - |
| Date | |
| Link to journal | |
| Key words | familial pseudoexfoliation, Gozo, case report |