WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma.
WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma.
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DOI：
10.3390/genes12101624
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发表时间：
2021-10-15
期刊：
影响因子：
3.5
通讯作者：
Ross AG
中科院分区：
文献类型：
--
作者：
Meer E;Aleman TS;Ross AG
WDR36 是与成人发病的原发性开角型青光眼 (POAG) 发病机制有关的众多基因之一。在这里，我们详细描述了一名具有 WDR36 致病性变异的患者的表型，该患者具有长期中心视力丧失的病史。检查时，视力为 20/100 水平，有 Tritan 颜色缺陷，视野测试显示中央弓形视野缺陷。正常眼压下增大的杯盘比与神经节细胞层（GCL）和视网膜神经纤维层的严重变薄相关，这与正常眼压性青光眼的临床诊断一致。全视野视网膜电图显示严重的视网膜内功能障碍，b 波振幅降低且时间明显延迟，但感光器（a 波）功能保留。本文描述的模式概括了 WDR36 相关 POAG 动物模型的一些发现，并提出了涉及全视网膜内视网膜功能障碍和 GCL 以外神经变性的疾病机制。需要对 WDR36 基因致病性变异患者进行更详细的结构和功能特征来证实这些发现。
WDR36 is one of a number of genes implicated in the pathogenesis of adult-onset primary open angle glaucoma (POAG). Here we describe in detail the phenotype of a patient with pathogenic variation in WDR36 who presented with a protracted history of central vision loss. On exam visual acuities were at 20/100 level, had a tritan color defect and showed central arcuate visual field defects on visual field testing. Enlarged cup-to-disk ratios with normal intraocular pressures were associated with severe thinning of the ganglion cell layer (GCL) and retinal nerve fiber layer consistent with a clinical diagnosis of normal tension glaucoma. Full-field electroretinograms revealed a severe inner retinal dysfunction with reduced amplitudes and remarkably delayed timings of the b-wave, but preserved photoreceptor (a-wave) function. The pattern described herein recapitulates some of the findings of an animal model of WDR36-associated POAG and suggests a mechanism of disease that involves a retina-wide inner retinal dysfunction and neurodegeneration beyond the GCL. Further detailed structural and functional characterizations of patients with a pathogenic variant in the WDR36 gene are required to confirm these findings.
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