de Muijnck Cansu, van Schooneveld Mary J, Plomp Astrid S, Rodenburg Richard J, van Genderen Maria M, Boon Camiel J F
Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands.
Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Am J Ophthalmol Case Rep. 2024 May 3;34:102070. doi: 10.1016/j.ajoc.2024.102070. eCollection 2024 Jun.
To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of gene variant m.8969G > A.
A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor presented with subacute painless visual loss over a few weeks. Mitochondrial genome sequencing revealed a variant in , m.8969G > A (p.Ser148Asn). This variant was previously reported in association with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) and with nephropathy, followed by brain atrophy, muscle weakness and arrhythmias, but not with optic atrophy.
Rare variants in can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber's hereditary optic neuropathy to confirm the clinical diagnosis.
描述一例存在基因变异m.8969G＞A的类似Leber遗传性视神经病变（LHON）的视神经萎缩病例。
一名20岁患者，有轻度发育迟缓、轻度认知障碍和姿势性震颤病史，在数周内出现亚急性无痛性视力丧失。线粒体基因组测序显示m.8969G＞A（p.Ser148Asn）变异。该变异先前报道与线粒体肌病、乳酸性酸中毒和铁粒幼细胞贫血（MLASA）以及肾病相关，随后出现脑萎缩、肌肉无力和心律失常，但与视神经萎缩无关。
线粒体基因的罕见变异也可导致类似LHON的视神经萎缩。对于疑似Leber遗传性视神经病变的基因未明确病例，进一步进行线粒体DNA基因分析以确诊临床诊断很重要。
