Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy
Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy
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DOI：
10.1007/s10633-022-09867-x
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发表时间：
2022-03-13
影响因子：
1.4
通讯作者：
Nakano，Tadashi
中科院分区：
文献类型：
--
作者：
Iida，Yuka;Hayashi，Takaaki;Nakano，Tadashi
1型肌强直性营养不良症（DM1）是一种常染色体显性遗传疾病，影响包括肌肉和眼睛在内的多个器官，由dmpk基因3 '非翻译区（UTR）的CTG三重扩增引起。白内障和视网膜变性是DM1患者的主要眼部并发症。我们报告了一例日本的DM1患者，他单侧表现为黄斑下出血，很少并发DM1。病例报告：一名56岁女性，因左眼视力下降。该患者被诊断为DM1，其携带dmpk 3 ' UTR的CTG重复扩增（1100）。右眼矫正视力为20/100，右眼矫正视力为20/2000。双眼均有白内障。眼底镜和血管造影显示LE黄斑下出血，由息肉样脉络膜血管病变（PCV，也称为动脉瘤样1型新生血管）引起。患者接受玻璃体内注射抗血管内皮生长因子药物和LE内六氟化硫气体。视场视网膜电图显示，与对照组相比，视杆闪烁和标准闪烁的反应减少到50%和10%以下，视锥闪烁和30赫兹闪烁的反应分别减少到40-50%和15-20%。多焦视网膜电图显示，在LE区整体反应消失，而在re区明显减弱。结论这是首例DM1合并PCV的患者。广泛的视网膜功能障碍可能与CTG重复扩增有关，其重复次数明显长于DM1患者的平均重复次数。
BackgroundMyotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disorder that affects multiple organs, including the muscle and eye, caused by a CTG triplet expansion of the 3′ untranslated region (UTR) of theDMPKgene. Cataracts and retinal degeneration are major eye complications in patients with DM1. We reported the case of a Japanese patient with DM1 who exhibited submacular hemorrhage unilaterally, rarely complicating DM1.Case reportA 56-year-old woman presented with loss of visual acuity in the left eye (LE). The patient was diagnosed with DM1, who carried expanded CTG repeats (1100) of the 3′ UTR ofDMPK. Her corrected visual acuities were 20/100 and 20/2000 in the right eye (RE) and LE, respectively. Cataracts were observed in both eyes. Fundoscopy and angiography revealed submacular hemorrhage in the LE due to polypoidal choroidal vasculopathy (PCV, also known as aneurysmal type 1 neovascularization). The patient underwent intravitreal injections of an anti-vascular endothelial growth factor drug and sulfur hexafluoride gas in the LE. Full-field electroretinography was performed, showing that the rod and standard-flash responses were reduced to 50% and below 10% in the RE and LE, whereas the cone and 30-Hz flicker responses were reduced to 40–50% and 15–20% in the RE and LE, respectively, compared with the controls. Multifocal electroretinography revealed that the overall responses were extinguished in the LE and considerably attenuated in the RE.ConclusionsThis is the first patient with DM1 complicated with PCV. Widespread retinal dysfunction may be associated with expanded CTG repeats, which is significantly longer than the mean repeat number of patients with DM1.