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Review of Ocular Manifestations of Joubert Syndrome

1
State University of New York Downstate Medical Center, Brooklyn, NY 11203, USA
2
Department of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USA
3
Palo Alto Veterans Administration, Palo Alto, CA 94304, USA
*
Author to whom correspondence should be addressed.
Genes 2018, 9(12), 605; https://doi.org/10.3390/genes9120605
Received: 29 September 2018 / Revised: 13 November 2018 / Accepted: 27 November 2018 / Published: 4 December 2018
(This article belongs to the Section Human Genomics and Genetic Diseases)
Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with a diagnostic “molar tooth” sign observed by magnetic resonance imaging (MRI) of the midbrain. We reviewed the ocular phenotypes that can be found in patients with Joubert syndrome. Ocular motor apraxia is the most frequent (80% of patients), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Although mutations in 34 genes have been found to be associated with Joubert syndrome, retinal degeneration has been reported in only 38% of patients. Mutations in AHI1 and CEP290, genes critical to primary cilia function, have been linked to retinal degeneration. In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations. View Full-Text
Keywords: Joubert syndrome; primary cilia Joubert syndrome; primary cilia
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MDPI and ACS Style

Wang, S.F.; Kowal, T.J.; Ning, K.; Koo, E.B.; Wu, A.Y.; Mahajan, V.B.; Sun, Y. Review of Ocular Manifestations of Joubert Syndrome. Genes 2018, 9, 605.

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