Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.
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一例ARSG相关非典型Usher综合征的多模态成像和遗传学发现
DOI：
10.1080/13816810.2021.1891552
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发表时间：
2021-06
影响因子：
1.2
通讯作者：
Maldonado RS
中科院分区：
文献类型：
--
作者：
Fowler NH;El-Rashedy MI;Chishti EA;Vander Kooi CW;Maldonado RS
非典型Usher综合征最近被认为与芳基硫酸酯酶G(ARSG)变异有关。在这些病例中，特征性的表现包括进行性感音神经性听力损失(SNHL)而不累及前庭和环状迟发性视网膜色素变性(RP)。这项研究包括一名患有非典型Usher综合征和一种新的纯合子ARSG变异的患者。患者接受了全面的眼科检查，包括多模式成像和基因测试。患者男，60岁，波斯人，有20年进行性SNHL病史，10年进行性周边视力丧失和视网膜色素变性。与先前报道的ARSG相关的非典型Usher综合征一致，眼底检查显示环形视网膜色素沉着，眼底自发荧光(Faf)显示六区自发荧光模式。光学相干断层扫描(OCT)显示广泛的囊样间隙集中在神经节细胞层。脉络膜毛细血管水平的Widefield OCT血管成像显示与Faf弱荧光区相对应的萎缩迹象。患者为Arg424Cys新的ARSG变异c.1270C>；T纯合子。我们报告了一例非典型Usher综合征的新的ARSG变异体，并描述了多模式成像结果，进一步表征了ARSG在非典型Usher综合征发病机制中的作用。
Atypical Usher syndrome has recently been associated with arylsulfatase G (ARSG) variants. In these cases, characteristic findings include progressive sensorineural hearing loss (SNHL) without vestibular involvement and ring-shaped late-onset retinitis pigmentosa (RP). One patient with atypical Usher syndrome and a novel homozygous ARSG variant was included in this study. The patient underwent a comprehensive ophthalmic examination, including multimodal imaging and genetic testing. A 60-year-old male of Persian decent presented to our clinic with a history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Consistent with previous reports of ARSG-related atypical Usher syndrome, fundus examination revealed ring-shaped retinal hyperpigmentation and fundus autofluorescence (FAF) demonstrated a six-zone pattern of autofluorescence. Optical coherence tomography (OCT) showed extensive cystoid spaces concentrated in the ganglion cell layer. Widefield OCT angiography at the level of the choriocapillaris showed signs of atrophy that corresponded to the FAF hypofluorescent zone. The patient was homozygous for a novel ARSG variant c. 1270C>T, p. Arg424Cys. We report a novel ARSG variant in a case of atypical Usher syndrome and describe multimodal imaging findings that further characterize the effect of ARSG in the pathogenesis of atypical Usher syndrome.
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影响因子：
14.8
作者：
Kelley LA;Mezulis S;Yates CM;Wass MN;Sternberg MJ
通讯作者：
Sternberg MJ
DOI：
10.1016/j.bbadis.2014.11.020
发表时间：
2015-03
影响因子：
6.2
作者：
Mathur, Pranav;Yang, Jun
通讯作者：
Yang, Jun
影响因子：
4.2
作者：
Spaide, Richard F.
通讯作者：
Spaide, Richard F.
影响因子：
3.7
作者：
Sliesoraityte I;Peto T;Mohand-Said S;Sahel JA
通讯作者：
Sahel JA
影响因子：
3.5
作者：
Lugowska, Agnieszka;Ploski, Rafal;Tylki-Szymanska, Anna
通讯作者：
Tylki-Szymanska, Anna