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Adult-onset bulbar ptosis in Joubert syndrome

Authors Burt B, Levine J, Le

Received 21 July 2011

Accepted for publication 19 September 2011

Published 24 January 2012 Volume 2012:6 Pages 151—153

DOI https://doi.org/10.2147/OPTH.S24440

Review by Single-blind

Peer reviewer comments 3


Benjamin Burt, Johanan Levine, Kim Le
Texas Tech University, Department of Ophthalmology, Paul L Foster School of Medicine, El Paso, Texas

Abstract: In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome. Joubert syndrome is a rare neurodevelopmental disorder with malformations in cerebellum and brainstem. Many ocular abnormalities have been noted in Joubert syndrome, but the association of this syndrome with adult-onset ptosis has not been described to date. This 24-year-old Joubert patient developed a cerebrospinal fluid cyst in her midbrain. She had signs of bilateral third nerve palsy and abducens palsy in the left eye. The bilateral central third nerve palsy causing functional blindness secondary to severe bilateral levator palsy was treated successfully with silicone sling frontalis suspension, as the seventh nerve nucleus was not involved.

Keywords: Joubert syndrome, ptosis, diplopia, molar tooth formation, silicone sling implants

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