Vasily M Smirnov, Eulalie Lasseaux, Vincent Michaud, Cécile Courdier, Isabelle Meunier, Benoit Arveiler, Sabine Defoort-Dhellemmes
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引用次数: 0
摘要
简介与AHR基因缺陷相关的婴儿眼球震颤和眼窝发育不全是一种新发现的罕见疾病。我们的目的是介绍一名患有新型双拷贝 AHR 致病变体的患者，其电生理学证据表明该患者存在驰神经错路：初次就诊时进行了全面的眼部检查、眼底成像、视觉诱发电位（VEP）和全视场视网膜电图检查。通过全外显子组测序进行了基因检测：结果：6 岁的女性患者出现最佳矫正视力下降、婴儿眼球震颤和 III 级典型的眼窝发育不全，但无色素沉着。在模式起始/偏移 VEP 中发现了交叉不对称。基因检测证明，AHR 存在一个新的同源变异：c.2242del, p. (Gln748Lysfs*5)。在 11 年的随访期间，BCVA 逐步改善。结论：AHR基因缺陷可能与视网膜病变有关：结论：AHR 基因缺陷可能与婴幼儿眼球震颤、眼窝发育不全和驰神经错位有关。
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
Introduction: Infantile nystagmus and foveal hypoplasia associated with AHR gene defects is a newly recognized and rare disorder. Our aim was to present a patient with a novel biallelic AHR pathogenic variant with electrophysiological evidence of chiasmal misrouting.
Materials and methods: Complete ocular examination, fundus imaging, visual evoked potentials (VEP) and full-field electroretinography were performed at initial presentation. Genetic testing was performed by whole exome sequencing.
Results: Female patient of 6 years old presented a reduced best corrected visual acuity, an infantile nystagmus and a grade III typical foveal hypoplasia without ocular hypopigmentation. A crossed asymmetry was discovered on pattern onset/offset VEP. Genetic testing put in evidence a novel homozygous variant in AHR: c.2242del, p. (Gln748Lysfs*5). During 11-years follow-up period, BCVA gradually improved. There was no evidence of retinal degeneration.
Conclusion: AHR gene defects could be associated with infantile nystagmus, foveal hypoplasia and chiasmal misrouting.
期刊介绍：
Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).
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