Ocular findings in two siblings with Joubert syndrome

Ocular findings in two siblings with Joubert syndrome

Shinji Makino, Hironobu TampoDepartment of Ophthalmology, Jichi Medical University, Shimotsuke, Tochigi, JapanAbstract: We describe two brothers with Joubert syndrome (JS). JS diagnosis was made on the basis of neurological findings and the presence of the characteristic "molar tooth sign&...

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Autores principales: Makino S, Tampo H
Formato: article
Lenguaje:EN
Publicado: Dove Medical Press 2014
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Ophthalmology
RE1-994
Acceso en línea:https://doaj.org/article/cc00097dadc741c19970488d03073344
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spelling oai:doaj.org-article:cc00097dadc741c19970488d030733442021-12-02T05:31:09ZOcular findings in two siblings with Joubert syndrome1177-5483https://doaj.org/article/cc00097dadc741c19970488d030733442014-01-01T00:00:00Zhttp://www.dovepress.com/ocular-findings-in-two-siblings-with-joubert-syndrome-a15504https://doaj.org/toc/1177-5483 Shinji Makino, Hironobu TampoDepartment of Ophthalmology, Jichi Medical University, Shimotsuke, Tochigi, JapanAbstract: We describe two brothers with Joubert syndrome (JS). JS diagnosis was made on the basis of neurological findings and the presence of the characteristic "molar tooth sign", which was subsequently confirmed by magnetic resonance imaging. Both brothers demonstrated ptosis, hypotropia, exotropia, and horizontal pendular nystagmus. The younger brother had mild chorioretinal discoloration at the peripapillary region in both eyes, and a small coloboma at the inferior region of his right optic disc. The elder brother had coloboma in his right eye and a colobomatous optic disc in his left eye. Optical coherence tomography showed that the foveal architecture was preserved in both patients. We discuss the ocular findings, including those from optical coherence tomography, in JS, which has recently been recognized as ciliopathy.Keywords: strabismus, coloboma, optical coherence tomography, ciliopathyMakino STampo HDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2014, Iss default, Pp 229-233 (2014)
institution DOAJ
collection DOAJ
language EN
topic Ophthalmology
RE1-994
spellingShingle Ophthalmology
RE1-994
Makino S
Tampo H
Ocular findings in two siblings with Joubert syndrome
description Shinji Makino, Hironobu TampoDepartment of Ophthalmology, Jichi Medical University, Shimotsuke, Tochigi, JapanAbstract: We describe two brothers with Joubert syndrome (JS). JS diagnosis was made on the basis of neurological findings and the presence of the characteristic "molar tooth sign", which was subsequently confirmed by magnetic resonance imaging. Both brothers demonstrated ptosis, hypotropia, exotropia, and horizontal pendular nystagmus. The younger brother had mild chorioretinal discoloration at the peripapillary region in both eyes, and a small coloboma at the inferior region of his right optic disc. The elder brother had coloboma in his right eye and a colobomatous optic disc in his left eye. Optical coherence tomography showed that the foveal architecture was preserved in both patients. We discuss the ocular findings, including those from optical coherence tomography, in JS, which has recently been recognized as ciliopathy.Keywords: strabismus, coloboma, optical coherence tomography, ciliopathy
format article
author Makino S
Tampo H
author_facet Makino S
Tampo H
author_sort Makino S
title Ocular findings in two siblings with Joubert syndrome
title_short Ocular findings in two siblings with Joubert syndrome
title_full Ocular findings in two siblings with Joubert syndrome
title_fullStr Ocular findings in two siblings with Joubert syndrome
title_full_unstemmed Ocular findings in two siblings with Joubert syndrome
title_sort ocular findings in two siblings with joubert syndrome
publisher Dove Medical Press
publishDate 2014
url https://doaj.org/article/cc00097dadc741c19970488d03073344
work_keys_str_mv AT makinos ocularfindingsintwosiblingswithjoubertsyndrome
AT tampoh ocularfindingsintwosiblingswithjoubertsyndrome
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