Mitochondrial Myopathy in the Oculoplastic Practice
4 affiliations
- 1Department of Ophthalmology, National University Health System, Singapore 119228, Singapore
- 2Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119077, Singapore
- 3Department of Ophthalmology, Ng Teng Fong General Hospital, Singapore 609606, Singapore
- 4Department of Pathology, National University Health System, Singapore 119077, Singapore
Abstract
Ptosis is a common ocular complaint in the elderly population. While most cases are often due to involutional changes in the eyelid, neurogenic, mechanical or myogenic diseases should remain as important differential diagnoses. We report a case of a 75-year-old Chinese man who presented with chronic progressive ptosis and was initially managed as presumed seronegative ocular myasthenia gravis (MG). Despite positive bedside findings suggestive of MG, serological and electrophysiological investigations were inconclusive, and there was no clinical response to pyridostigmine. The diagnosis was achieved only after an opportunistic frontalis muscle biopsy obtained during planned brow lift surgery demonstrated histopathological features supportive of a mitochondrial aetiology. This case highlights the diagnostic challenge of distinguishing mitochondrial myopathies (MM) from ocular MG, emphasises clinical features that should prompt reconsideration of the diagnosis, and illustrates how opportunistic biopsy during oculoplastic surgery may facilitate diagnosis in selected patients with persistent diagnostic uncertainty.
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BibTeX
@article{cheong2026mitochondrial,
title = {{Mitochondrial Myopathy in the Oculoplastic Practice}},
author = {Alex J. Y. Cheong and Jianbin Ding and Zhi Wei Lim and Wen Chen and Kong Bing Tan and Maryanne Chew Romero and Blanche X. H. Lim},
journal = {Journal of clinical medicine},
year = {2026},
month = oct,
doi = {10.3390/jcm15197646},
url = {https://europepmc.org/article/PMC/PMC13666360},
note = {CC BY},
}
RIS
TY - JOUR
TI - Mitochondrial Myopathy in the Oculoplastic Practice
AU - Alex J. Y. Cheong
AU - Jianbin Ding
AU - Zhi Wei Lim
AU - Wen Chen
AU - Kong Bing Tan
AU - Maryanne Chew Romero
AU - Blanche X. H. Lim
PY - 2026
DA - 2026/10/01
JO - Journal of clinical medicine
DO - 10.3390/jcm15197646
UR - https://europepmc.org/article/PMC/PMC13666360
AB - Ptosis is a common ocular complaint in the elderly population. While most cases are often due to involutional changes in the eyelid, neurogenic, mechanical or myogenic diseases should remain as important differential diagnoses. We report a case of a 75-year-old Chinese man who presented with chronic progressive ptosis and was initially managed as presumed seronegative ocular myasthenia gravis (MG). Despite positive bedside findings suggestive of MG, serological and electrophysiological investigations were inconclusive, and there was no clinical response to pyridostigmine. The diagnosis was achieved only after an opportunistic frontalis muscle biopsy obtained during planned brow lift surgery demonstrated histopathological features supportive of a mitochondrial aetiology. This case highlights the diagnostic challenge of distinguishing mitochondrial myopathies (MM) from ocular MG, emphasises clinical features that should prompt reconsideration of the diagnosis, and illustrates how opportunistic biopsy during oculoplastic surgery may facilitate diagnosis in selected patients with persistent diagnostic uncertainty.
SN - 2077-0383
ER -