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&a...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2014-01-01
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| Series: | Clinical Ophthalmology |
| Online Access: | http://www.dovepress.com/ocular-findings-in-two-siblings-with-joubert-syndrome-a15504 |
| _version_ | 1818997943050436608 |
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| author | Makino S Tampo H |
| author_facet | Makino S Tampo H |
| author_sort | Makino S |
| collection | DOAJ |
| 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 |
| first_indexed | 2024-12-20T21:53:39Z |
| format | Article |
| id | doaj.art-cc00097dadc741c19970488d03073344 |
| institution | Directory Open Access Journal |
| issn | 1177-5483 |
| language | English |
| last_indexed | 2024-12-20T21:53:39Z |
| publishDate | 2014-01-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Clinical Ophthalmology |
| spelling | doaj.art-cc00097dadc741c19970488d030733442022-12-21T19:25:30ZengDove Medical PressClinical Ophthalmology1177-54832014-01-012014default22923315504Ocular findings in two siblings with Joubert syndromeMakino STampo HShinji 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, ciliopathyhttp://www.dovepress.com/ocular-findings-in-two-siblings-with-joubert-syndrome-a15504 |
| spellingShingle | Makino S Tampo H Ocular findings in two siblings with Joubert syndrome Clinical Ophthalmology |
| title | 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_short | Ocular findings in two siblings with Joubert syndrome |
| title_sort | ocular findings in two siblings with joubert syndrome |
| url | http://www.dovepress.com/ocular-findings-in-two-siblings-with-joubert-syndrome-a15504 |
| work_keys_str_mv | AT makinos ocularfindingsintwosiblingswithjoubertsyndrome AT tampoh ocularfindingsintwosiblingswithjoubertsyndrome |