Exophthalmos associated with chronic progressive external ophthalmoplegia

Abstract

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,