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Review of Ocular Manifestations of Joubert Syndrome.

TitleReview of Ocular Manifestations of Joubert Syndrome.
Publication TypeJournal Article
Year of Publication2018
AuthorsWang, Stephanie F., Kowal Tia J., Ning Ke, Koo Euna B., Wu Albert Y., Mahajan Vinit B., and Sun Yang
JournalGenes (Basel)
Date Published2018 Dec 04

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 and , 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.

Alternate JournalGenes (Basel)
PubMed ID30518138
Grant List. / / NIH/NEI K08-EY022058 (Y.S.), R01-EY025295 (Y.S.), VA merit CX001298 (Y.S.), Ziegler Foundation for the Blind (Y.S.), Showalter Foundation (Y.S.), Children's Health Research Institute Award (Y.S.). Research for Prevention of Blindness Unrestricted grant (S /
EY25295 / / National Institutes of Health /
CX001298 / / U.S. Department of Veterans Affairs /
EY022058 / / National Institutes of Health /