First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.

Purpose: To describe the genotype-phenotype correlation in four Greek pedigrees with autosomal dominant optic atrophy (ADOA) and OPA1 mutations.

Methods: Seven patients from four unrelated families (F1, F2, F3, F4) were clinically assessed for visual acuity, color vision, ptosis, afferent pupillary defects, and visual fields and underwent orthoptic assessment, slit-lamp biomicroscopy, and fundus examination to establish their clinical status. Genomic DNA was extracted from peripheral blood samples from all participants.

Cardiovascular repercussions of the pseudoexfoliation syndrome.

Pseudoexfoliation syndrome is a primarily ophthalmological disorder caused by deposition of whitish-gray protein on the lens, iris, and multiple other eye tissues. There is increasing evidence over the previous years that pseudoexfoliation syndrome is a systemic disorder with various extraocular manifestations and has recently been linked to several cardiovascular disorders. The present article aims to summarize the current knowledge on cardiovascular implications of this well-described clinical entity.