Transient bilateral optic disc oedema in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

Optical coherence tomography as a possible tool to monitor and predict disease progression in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

“…To our knowledge, there are four previous studies on retinal changes in patients with MELAS by OCT. Cho et al reported an 11-year-old male patient with MELAS who had transient left homonymous hemianopsia and defects of the nasal retinal nerve fiber layer, which is a main component of the GCC, in both eyes, neither of which was correlated with the brain lesion (Cho and Yu, 2015). On the other hand, Mack et al reported a 50-year-old male patient with MELAS who developed transient bilateral optic disc edema followed by spontaneous full recovery, without the subsequent development of optic nerve atrophy on OCT (Mack et al, 2018). Our results are consistent with Cho's case, and support their suggestion that OCT is a useful tool to detect optic atrophy in patients who have mitochondrial disease and normal morphology of the optic nerve head.…”

“…Although vision loss due to cortical vision loss, pigmentary retinopathy and/or optic nerve atrophy may occur in MELAS patients, ophthalmic involvement in the disease has not been thoroughly evaluated in vivo using modern retinal imaging techniques. To the best of our knowledge, there are only a few case reports of patients with MELAS using optical coherence tomography (OCT) (Cho and Yu, 2015;Daruich et al, 2014;Mack et al, 2018;Navajas and Xu, 2015). However, the entire clinical picture is not clear on the basis of a case series.…”

Stroke-like episode of the optic nerve

“…The patient is reported to have had headache 4 weeks before presentation. 1 However, findings of cerebrospinal fluid investigations were normal, the intracerebral pressure was not increased, and the intraocular pressure was within normal limits as well. Thus, it should be discussed whether headache was caused by status migrainosus, hypertension of the neck muscles, arterial hypertension, infection of the sinuses, or a sinus venous thrombosis.…”

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We read with interest the article by Mack et al about a 50year-old male with MELAS syndrome attributable to the mtDNA variant m.3243A>G who developed transient optic disc edema being attributed to the underlying metabolic defect after exclusion of various differential diagnoses. 1 We have the following comments and concerns.The mutation load of 13% in blood lymphocytes of the index case is fairly low 1 and hardly causative for the clinical manifestations. It thus would be interesting to know whether heteroplasmy rates were higher in hair follicles, muscle cells, buccal mucosa cells, skin fibroblasts, or urinary epithelial cells than in blood lymphocytes to confirm the pathogenicity of the described variant.MELAS patients may manifest not only with ophthalmologic or neurologic abnormalities, but also with cardiac, renal, gastrointestinal, hematological, or dermatological disease.

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“…We read with interest the article by Mack et al about a 50year-old male with MELAS syndrome attributable to the mtDNA variant m.3243A>G who developed transient optic disc edema being attributed to the underlying metabolic defect after exclusion of various differential diagnoses. 1 We have the following comments and concerns.…”