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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
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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. |
format | Online Article Text |
id | pubmed-6315342 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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