Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review

Abstract

Mitochondrial DNA G13513A mutation can cause LHON/MELAS overlap syndrome. Nonischemic CRVO is a rare manifestation of LHON/MELAS. Atypical findings in cases of LHON should raise the suspicion of overlap syndrome or other mitochondrial diseases.

Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome

“…Additionally, WPW syndrome was revealed on the patient's electrocardiogram. While the m.13513 G>A mutation first found in association with MELAS (3,4), a recent report also described the m.13513 G>A mutation in cases of Leigh syndrome, especially in association with WPW syndrome (8). Leigh syndrome is commonly caused by both nuclear and mitochondrial DNA mutations of respiratory chain complex I genes (9).…”

“…In China, a common causative mutation for Leigh syndrome is the SURF1 mutation, and m.8993 T>G, m.8993 T>C, and m.3243A>G mutations in the MTATP6, MTATP6 , and MT-TL1 genes also have been identified as causative mutations in Chinese patients with Leigh syndrome ( 2 ). Another mutation, the m.13513 G>A mutation, is more commonly associated with MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) ( 3 , 4 ), but ~7% of Leigh syndrome cases in Western countries are estimated to be caused by the m.13513 G>A mutation ( 5 ). However, this mutation has not previously been reported in China in association with Leigh syndrome.…”

Central Retinal Vein Occlusion

“…There are a number of anecdotal case reports of CRVO with many systemic diseases, including acquired immunodefi ciency disease [ 17 -28 ], arteriovenous fi stula of the carotid artery to the cavernous sinus [ 29 -34 ], acute myeloid leukemia [ 35 ], acute retinal necrosis [ 36 ], angle-closure glaucoma, Behçet's disease [ 37 , 38 ], bone marrow transplantation [ 39 ], cannabis smoking [ 40 ], cavernous sinus thrombosis [ 41 , 42 ], Churg-Strauss syndrome [ 43 ], contraceptive pills [ 44 -46 ], cosmetic iris implants [ 47 ], Crohn's disease [ 48 -51 ], cyanotic heart disease [ 52 ], dehydration [ 53 ], Eisenmenger syndrome [ 54 ], essential thrombocythemia [ 55 , 56 ], exercise induced [ 57 ], following cardiac surgery [ 58 ], following pars plana vitrectomy [ 59 ], pseudoexfoliation of the lens capsule [ 60 -63 ], laser in situ keratomileusis [ 64 ], glucose-6-phosphate dehydrogenase defi ciency [ 65 ], headstand posture in Yoga (Sirsasana) [ 66 ], hemodialysis [ 67 ], human herpes virus [ 68 ], high altitude [ 69 , 70 ], hormone replacement therapy [ 71 ], interferon therapy [ 72 -76 ], intraocular nematode [ 77 ], isotretinoin use for acne [ 78 ], Leber's hereditary optic neuropathy [ 79 ], licorice ingestion [ 80 ], malignant arterial hypertension [ 81 ], melanocytoma of the optic disc [ 82 , 83 ], metastatic adenocarcinoma in the optic nerve sheath [ 84 ], migraine [ 85 ], multiple myeloma [ 86 , 87 ], non-Hodgkin's lymphoma [ 88 -90 ], occult colon cancer …”

A case of late‐onset Leber's hereditary optic neuropathy with elevated serum lactic acid and pyruvic acid levels by cycle ergometer exercise

“…Some cases of LHON/Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke‐like episodes (MELAS) overlap syndrome have been reported. Each case had mitochondrial gene mutation which was different from three common LHON mutations …”

“…Each case had mitochondrial gene mutation which was different from three common LHON mutations. [2][3][4] We describe a female with late-onset LHON who presented with elevated serum lactic acid (LA) and pyruvic acid (PA) levels by cycle ergometer exercise, which shows the genotype and phenotype diversity of LHON.…”