Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants, revealing a new phenotype of episodic visual loss during febrile illness.

中文翻译：

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复杂的遗传性痉挛性截瘫与 ACO2 变异引起的发作性视力丧失相关

大多数具有纯合子或复合杂合子致病性 ACO2 变异的患者存在肌张力减退特征，即婴儿小脑-视网膜变性。最近，两项研究报告了罕见的 ACO2 变异家族病例，表现为具有广泛临床谱的复杂遗传性痉挛性截瘫 (HSP)。在这里，我们报告了一例由复合杂合 ACO2 变异引起的复杂 HSP 的 20 岁日本女性，揭示了发热性疾病期间发作性视力丧失的新表型。