Exophthalmos associated with chronic progressive external ophthalmoplegia

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

doi:10.1007/s10384-022-00920-5

Cited by 3 publications

(3 citation statements)

References 15 publications

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“…We read with interest the article by Takeda et al on a case series of seven patients with chronic progressive external ophthalmoplegia (CPEO) due to a single mtDNA deletion who also developed exophthalmus [1]. It was found that exophthalmus is a common finding in PEO with an incidence of 70% and can be hidden by ptosis [1].…”

Section: To the Editormentioning

confidence: 98%

“…A further limitation of the study is that heteroplasmy rates of the causative mtDNA deletions were not provided [1]. Because mtDNA deletions were detected in different tissues such as buccal mucosa cells, saliva, or extra-ocular muscles (EOMs), variable heteroplasmy rates can be expected, as heteroplasmy rates frequently correlate with the severity of organ affection [2].…”

Section: To the Editormentioning

confidence: 99%

“…Exophthalmus in CPEO may not only be explained by atrophy of EOMs, thyroid ophthalmopathy, orbital mass lesion, or increased axial length [1], but also due to a number of other causalities.…”

Section: To the Editormentioning

confidence: 99%

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Exophthalmos associated with chronic progressive external ophthalmoplegia

2022

Jpn J Ophthalmol

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exophthalmus in CPEO patients could be weakness of the extraocular muscles, facial dysmorphism resulting in narrow orbitae, sinus cavernous thrombosis, and pituitary adenoma [3]. Facial dysmorphism is a common feature of mitochondrial disorders, and some of these patients may develop pituitary adenoma. All these differentials should be appropriately ruled out before starting genetic work-up for single or multiple mtDNA deletions.Because 4% of single mtDNA deletions are inherited [4], it is crucial to acquire a profound and extensive family history. Knowing the family history is not only crucial for genetic counselling of these patients but also to assess intrafamilial phenotypic heterogeneity of CPEO, which can be considerable between family members [5].Patients with a mitochondrial disorder may manifest with keratoconus. Keratoconus may lengthen line "B" and may lead to a false positive diagnosis of exophthalmus.Overall, the interesting study has some limitations that call the results and their interpretation into question. Clarifying these weaknesses would strengthen the conclusions and could improve the study. Sincerely,

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Section: To the Editormentioning

confidence: 98%

Section: To the Editormentioning

confidence: 99%

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Exophthalmos associated with chronic progressive external ophthalmoplegia

2022

Jpn J Ophthalmol

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Yanoff,

Sassani

2025

Ocular Pathology

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Frequency of Thyrotoxicosis in Patients Presenting with Unilateral Proptosis in District Headquarters Teaching Hospital D.I.Khan

Khan,

Rehman,

Rehman

et al. 2024

PJHS

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Thyrotoxicosis is a medical disorder marked by retraction of the eyelids, resulting in a wide-eyed or gazing appearance. This syndrome can occur in patients with any form of hyperthyroidism as a result of increased activity of the sympathetic nervous system. Objectives: To investigate the prevalence of thyrotoxicosis and factors contributing to unilateral proptosis, with a specific focus on early diagnosis and prompt treatment. Methods: A cross-sectional study was conducted from January 2023 to January 2024 and categorical variables were presented with the frequency and percentage. The study had a total of 62 patients who exhibited unilateral proptosis. The clinical examinations involved a comprehensive collection of medical history, examination of eyes, analysis of blood samples, evaluation of thyroid function, and utilization of advanced imaging techniques. The associations between thyrotoxicosis and demographic variables were evaluated using chi-square tests. Data were entered and analyzed on SPSS version 26. Results: The mean age of participants was 27.84 ± 6.8 years and female comprised 54.8% of the total. It was observed that female had a greater incidence rate (73.5%) compared to male (53.6%) (p>0.05). Additional findings included retrobulbar tumors (16.1%), cavernous sinus thrombosis (12.9%), and idiopathic proptosis (6.5%). The prevalence of thyrotoxicosis was highest among individuals aged 15-30 (p<0.05). The most common symptom linked with thyrotoxicosis was diplopia (33.9%) (p<0.05). Conclusions: Thyrotoxicosis has a major role in causing unilateral proptosis, especially in female and younger persons. Being female and experiencing pain may serve as predictors for thyrotoxicosis.

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Exophthalmos associated with chronic progressive external ophthalmoplegia

Cited by 3 publications

References 15 publications

Exophthalmos associated with chronic progressive external ophthalmoplegia

Exophthalmos associated with chronic progressive external ophthalmoplegia

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Frequency of Thyrotoxicosis in Patients Presenting with Unilateral Proptosis in District Headquarters Teaching Hospital D.I.Khan

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