Review of Ocular Manifestations of Joubert Syndrome
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 development...
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2018-12-01
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doaj-5e134e3ed10b4b3588e55cea995f91372020-11-25T00:37:30ZengMDPI AGGenes2073-44252018-12-0191260510.3390/genes9120605genes9120605Review of Ocular Manifestations of Joubert SyndromeStephanie F. Wang0Tia J. Kowal1Ke Ning2Euna B. Koo3Albert Y. Wu4Vinit B. Mahajan5Yang Sun6State University of New York Downstate Medical Center, Brooklyn, NY 11203, USADepartment of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USADepartment of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USADepartment of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USADepartment of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USADepartment of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USADepartment of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USAJoubert 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 <i>AHI1</i> and <i>CEP290</i>, 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.https://www.mdpi.com/2073-4425/9/12/605Joubert syndromeprimary cilia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Stephanie F. Wang Tia J. Kowal Ke Ning Euna B. Koo Albert Y. Wu Vinit B. Mahajan Yang Sun |
spellingShingle |
Stephanie F. Wang Tia J. Kowal Ke Ning Euna B. Koo Albert Y. Wu Vinit B. Mahajan Yang Sun Review of Ocular Manifestations of Joubert Syndrome Genes Joubert syndrome primary cilia |
author_facet |
Stephanie F. Wang Tia J. Kowal Ke Ning Euna B. Koo Albert Y. Wu Vinit B. Mahajan Yang Sun |
author_sort |
Stephanie F. Wang |
title |
Review of Ocular Manifestations of Joubert Syndrome |
title_short |
Review of Ocular Manifestations of Joubert Syndrome |
title_full |
Review of Ocular Manifestations of Joubert Syndrome |
title_fullStr |
Review of Ocular Manifestations of Joubert Syndrome |
title_full_unstemmed |
Review of Ocular Manifestations of Joubert Syndrome |
title_sort |
review of ocular manifestations of joubert syndrome |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2018-12-01 |
description |
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 <i>AHI1</i> and <i>CEP290</i>, 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. |
topic |
Joubert syndrome primary cilia |
url |
https://www.mdpi.com/2073-4425/9/12/605 |
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