We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Exophthalmos associated with chronic progressive external ophthalmoplegia.
- Authors
Takeda, Yu; Suzuki, Hiroko; Hosono, Katsuhiro; Hikoya, Akiko; Komori, Miwa; Inagaki, Risako; Haseoka, Takashi; Arai, Shinji; Takagi, Yuri; Hotta, Yoshihiro; Sato, Miho
- Abstract
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.
- Subjects
EXOPHTHALMOS; EYE paralysis; MITOCHONDRIAL DNA; EYE movements; DELETION mutation; STRABISMUS; LEBER'S hereditary optic atrophy
- Publication
Japanese Journal of Ophthalmology, 2022, Vol 66, Issue 3, p314
- ISSN
0021-5155
- Publication type
Article
- DOI
10.1007/s10384-022-00920-5