Exophthalmos associated with chronic progressive external ophthalmoplegia.

Yu Takeda, Hiroko Suzuki, Katsuhiro Hosono, Akiko Hikoya, Miwa Komori, Risako Inagaki, Takashi Haseoka, Shinji Arai, Yuri Takagi, Yoshihiro Hotta, Miho Sato

Japanese journal of ophthalmology 2022 May

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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. 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. 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. 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. © 2022. Japanese Ophthalmological Society.

Citation

Yu Takeda, Hiroko Suzuki, Katsuhiro Hosono, Akiko Hikoya, Miwa Komori, Risako Inagaki, Takashi Haseoka, Shinji Arai, Yuri Takagi, Yoshihiro Hotta, Miho Sato. Exophthalmos associated with chronic progressive external ophthalmoplegia. Japanese journal of ophthalmology. 2022 May;66(3):314-319