Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exons 8-16) and at the 3'-end (exons 27-28).

[Fibrinolysis in the treatment of the amaurosis fugax: a case report].

The authors report a case of amaurosis fugax treated first by systemic fibrinolysis and then by antiplatelet treatment. A 47-year-old suffering from transient amaurosis due to recurrent occlusion of retinal arterial branches improved after treatment and showed no recurrence. This protocol appears effective in cases of probable embolus in a young patient with no contraindications and when flow is not reestablished (amaurosis fugax), or when the required 6-hour time delay is respected.