Contralateral orbicularis oculi muscle transposition in facial paralysis: functional, aesthetic and electromyographic outcomes. A case report and literature update.

PURPOSE: Many surgical approaches have been described for achieving satisfactory functionality in patients with facial paralysis, to ensure the protection of the cornea and the highest degree of physiological blinking. Out of all those available, dynamic techniques are indicated when motion recovery and synchrony are the goals pursued. Orbicularis oculi transposition (OOT) allows a genuine restoration of blinking by means of contralateral reinnervation, with minimal insult for the donor site. METHODS: We present the case of a 64-year-old man with unilateral facial paralysis. A physical examination revealed a lagophthalmos of more than 5 mm. A neurophysiological study showed a mild-to-moderate axonal injury of the left facial nerve. Contralateral OOT was indicated as the first therapy option since it can restore involuntary blinking. The orbicularis muscle flap was not divided into branches, as described previously by other authors; the whole flap was transposed to the paralysed upper eyelid to achieve the highest level of potential reinnervation. RESULTS: Lagophthalmos was fully corrected after the surgery. The patient reported subjective improvement of symptoms, less frequent instillation of artificial tear drops and, especially, synchronous blinking with significant improvement in involuntarity. These improvements were maintained after 1 year of follow-up. Postoperative electromyographic studies confirmed the improvement in neural function. CONCLUSIONS: OOT can be a safe and effective option for the treatment of patients with peripheral facial paralysis, as it achieves a good restoration of blinking function with minimal morbidity in the healthy donor eye.

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.

Posterior polymorphous corneal dystrophy (PPCD), a rare, bilateral, autosomal-dominant, inherited corneal dystrophy, affects the Descemet membrane and corneal endothelium. We describe an unusual presentation of PPCD associated with a previously unknown genetic alteration in the ZEB1 gene. The proband is a 64-year-old woman diagnosed with keratoconus referred for a corneal endothelium study who presented endothelial lesions in both eyes suggestive of PPCD, corectopia and iridocorneal endothelial synechiae in the right eye and intrastromal segments in the left eye. The endothelial count was 825 in the right eye and 1361 in the left eye, with typical PPCD lesions visible under specular and confocal microscopy. In the next generation sequencing genetic analysis, a heterozygous c.1A > C (p.Met1Leu) mutation was found in the ZEB1 gene (TCF8). The PPCD3 subtype is associated with corneal ectasia, and both can appear due to a pathogenic mutation in the ZEB1 gene (OMIM #189909). However, our patient had a previously unreported mutation in the ZEB1 gene, which mediates the transition between cell lines and provides a pathogenic explanation for the epithelialisation of the corneal endothelium, a characteristic of PPCD.