| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2023-12-11 |
| タイトル |
|
|
タイトル |
Exophthalmos associated with chronic progressive external ophthalmoplegia |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
Exophthalmos |
| キーワード |
|
|
主題 |
Chronic progressive external ophthalmoplegia |
| キーワード |
|
|
主題 |
Strabismus |
| キーワード |
|
|
主題 |
Ptosis |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 著者 |
Takeda, Yu
Suzuki, Hiroko
Hosono, Katsuhiro
Hikoya, Akiko
Komori, Miwa
Inagaki, Risako
Haseoka,Takashi
Arai, Shinji
Takagi, Yuri
Hotta, Yoshihiro
Sato, Miho
|
| 書誌情報 |
en : Japanese Journal of Ophthalmology
巻 66,
号 3,
p. 314-319,
発行日 2022-05
|
| 出版者 |
|
|
出版者 |
Springer Nature |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
日本眼科学会 |
|
言語 |
ja |
| 出版者 |
|
|
出版者 |
Japanese Ophthalmological Society |
|
言語 |
en |
| 権利 |
|
|
権利情報 |
This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1007/s10384-022-00920-5 |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Purpose Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although exophthalmos is not considered to be a common feature of CPEO, this study focused on the incidence of exophthalmos in patients with CPEO.
Study design Retrospective observational case series
Methods We reviewed the clinical charts of patients who received a diagnosis of CPEO sometime during the period between January 2010 and December 2018. CPEO was diagnosed on the basis of detection of a deletion of mitochondrial DNA (mtDNA) from saliva, buccal mucosa, or extraocular muscle specimens obtained during strabismus surgery. Horizontal MRI/CT images or Hertel ophthalmometry was used in determining exophthalmos.
Results Seven patients (4 males) were identified. The mean age at diagnosis was 32.6 years (range, 13-53 years). mtDNA deletion mutations were detected in the buccal mucous membrane DNA in 5 patients and in the saliva and extraocular muscle DNA in 2 patients. MRI/CT was recorded in 6 patients, four of whom showed exophthalmos (cases 1-4), and case 5 was determined as exophthalmos on the basis of a Hertel ophthalmometer reading.
Exophthalmos was bilateral in 4 of the patients (cases 1, 2, 4, and 5) and unilateral in 1 patient (case 3). Exophthalmos was the chief concern of 2 of the patients; however, it was not clinically significant in the other patients.
Conclusions Although exophthalmos may not be recognized by either the patient or the clinician, it may be one of the common features of CPEO. A large multiethnic study should be performed. |
| ISSN |
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|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
0021-5155 |
| EISSN |
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収録物識別子タイプ |
EISSN |
|
収録物識別子 |
1613-2246 |
| NII書誌ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00691177 |
| PubMed番号 |
|
|
関連タイプ |
isVersionOf |
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|
識別子タイプ |
PMID |
|
|
関連識別子 |
35438395 |
| 医中誌論文ID |
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|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
ICHUSHI |
|
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関連識別子 |
2023145645 |
| 出版社DOI |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1007/s10384-022-00920-5 |
| 著者版フラグ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
JJO-66-314.pdf (1199 KB)
