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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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Autores principales: Wang, Stephanie F., Kowal, Tia J., Ning, Ke, Koo, Euna B., Wu, Albert Y., Mahajan, Vinit B., Sun, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315342/
https://www.ncbi.nlm.nih.gov/pubmed/30518138
http://dx.doi.org/10.3390/genes9120605
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author Wang, Stephanie F.
Kowal, Tia J.
Ning, Ke
Koo, Euna B.
Wu, Albert Y.
Mahajan, Vinit B.
Sun, Yang
author_facet Wang, Stephanie F.
Kowal, Tia J.
Ning, Ke
Koo, Euna B.
Wu, Albert Y.
Mahajan, Vinit B.
Sun, Yang
author_sort Wang, Stephanie F.
collection PubMed
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 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.
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spelling pubmed-63153422019-01-09 Review of Ocular Manifestations of Joubert Syndrome Wang, Stephanie F. Kowal, Tia J. Ning, Ke Koo, Euna B. Wu, Albert Y. Mahajan, Vinit B. Sun, Yang Genes (Basel) Review 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. MDPI 2018-12-04 /pmc/articles/PMC6315342/ /pubmed/30518138 http://dx.doi.org/10.3390/genes9120605 Text en © 2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Wang, Stephanie F.
Kowal, Tia J.
Ning, Ke
Koo, Euna B.
Wu, Albert Y.
Mahajan, Vinit B.
Sun, Yang
Review of Ocular Manifestations of Joubert Syndrome
title 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_short Review of Ocular Manifestations of Joubert Syndrome
title_sort review of ocular manifestations of joubert syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315342/
https://www.ncbi.nlm.nih.gov/pubmed/30518138
http://dx.doi.org/10.3390/genes9120605
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