Genetic and clinical evaluation of pedigrees affected by pseudoexfoliation from Nova Scotia and Iceland

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Purpose: Several examples of familial aggregation of pseudoexfpliation have been reported, supporting the hypothesis that pseudoexfoliation is an inherited disorder. The characteristic geographic distribution of the disease is suggestive of a regional gene pool rather than environmental influences. To further evaluate the inheritance of pseudoexfoliation, and to begin to investigate genes(s) that contribute to this condition we have identified 11 pedigrees with multiple affected members.
Methods: Members of pedigrees from Nova Scotia and Iceland were examined by one of the authors. Patients were determined to be affected by pseudoexfoliation if the characteristic fibrillar pseudoexfoliative material was visualized on the lens capsule. Patients were determined to be affected by pseudoexfoliative glaucoma if in addition to slit lamp evidence of pseudoexfoliation me intraocular pressure was found to be > 22 mm HG (without treatment) and the optic nerve showed characteristic glaucomatous degeneration.
Result: 31 individuals over the age of 60 belonging to 6 Icelandic families were identified". Of these, 18 were affected by pseudoexfoliation and 6 were affected by pseudoexfoliative glaucoma. 24 individuals over the age of 60 belonging to 5 Nova Scotian families were identified. 15 individuals were affected by pseudoexfoliation, and 8 were affected by pseudoexfoliative glaucoma. Other ocular or systemic disorders were not consistently found in affected members of any of the pedigrees.
Conclusions: These results suggest that pseudoexfoliation may be inherited. The results are consistent with an autosomal dominant mode of transmission, or an autosomal recessive mode with a high frequency of heterozygous carriers in the sampled populations. Similar results were seen with the Icelandic and Nova Scotian nonulations. A eenomic screen to identifv susceotibilitv eene(s) for this condition is currently underway.


This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Investigative Ophthalmology & Visual Science