Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.
Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.
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NAA10 相关和 NAA15 相关神经发育综合征的眼科表现：皮质视觉障碍和屈光不正的分析。
DOI：
10.1101/2024.02.01.24302161
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发表时间：
2024
期刊：
影响因子：
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通讯作者：
Lyon,GholsonJ
中科院分区：
文献类型：
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作者：
Patel,Rahi;Park,AgnesY;Marchi,Elaine;Gropman,AndreaL;Whitehead,MatthewT;Lyon,GholsonJ
NAA10相关(Ogden综合征)和NAA15相关的神经发育综合征已知呈现不同程度的智力残疾、低眼压、先天性心脏异常、癫痫发作以及语言和运动发育延迟。然而，NAA10和NAA15变异体的眼部表现尚未完全确定或了解。这项研究分析了67例NAA10队列中有致病(P)或类似致病(LP)变异的患者(54例遗传，10例从头发生；65例错义，2例移码)和19例NAA15队列中(L)P变异的患者(18例从头发生；8例移码，4例错义，4例无意义，1个拼接位置移位)的6种眼部疾病(皮质视力障碍、近视、远视、斜视、眼球震颤和散光)的患病率。患者接受虚拟访谈或面对面访谈，以收集由病历核实的全面病史。然后对这些记录进行分析，以计算这些眼部表现在每个队列中的患病率。分析显示，与现有文献相比，我们的NAA10队列中眼科疾病的患病率更高(近视25.4%比4.7%；散光37.3%比13.2%；斜视28.4%比3.8%；CVI22.4%比8.5%)。在NAA10和NAA15变种之间，这些疾病的患病率没有统计上的显著差异。我们的研究包括对13NAA10和5NAA15先证者的新的神经成像，该研究没有提供眼球大小和合并眼病严重程度之间的明确相关性。最后，汇编了轶事证据以强调早期眼科评估和治疗干预的重要性。
NAA10‐related (Ogden syndrome) andNAA15‐related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations ofNAA10andNAA15variants are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic (P) or likely pathogenic (LP) variants in theNAA10cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with (L)P variants in theNAA15cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in‐person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in ourNAA10cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified in the prevalence of these conditions between theNAA10andNAA15variants. Our study includes novel neuroimaging of 13NAA10and 5NAA15probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.