Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, 6-41-2 Aoto, Katsushika-ku, Tokyo, 125-8506, Japan.
Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, 105-8461, Japan.
Doc Ophthalmol. 2022 Jun;144(3):217-226. doi: 10.1007/s10633-022-09867-x. Epub 2022 Mar 13.
Myotonic 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 the DMPK gene. 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.
A 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 of DMPK. 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.
This 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.
肌强直性营养不良 1 型（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，其病因是位于 DMPK 基因 3'非翻译区（UTR）的 CTG 三核苷酸重复扩增。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 DM1 患者，其单侧出现黄斑下出血，这种情况很少并发 DM1。
一名 56 岁女性因左眼（LE）视力丧失就诊。该患者被诊断为 DM1，其 DMPK 基因 3'UTR 存在扩展的 CTG 重复（1100 个）。她的右眼（RE）和左眼（LE）矫正视力分别为 20/100 和 20/2000。双眼均发现白内障。眼底检查和血管造影显示左眼黄斑下出血是由息肉样脉络膜血管病变（PCV，也称为 1 型新生血管）引起的。患者在左眼接受了抗血管内皮生长因子药物和六氟化硫气体的眼内注射。全视野视网膜电图检查显示，右眼和左眼的杆状和标准闪光反应分别降至对照的 50%以下和 10%以下，而锥状和 30-Hz 闪烁反应分别降至对照的 40-50%和 15-20%。多焦视网膜电图显示左眼总体反应完全消失，右眼反应明显减弱。
这是首例并发 PCV 的 DM1 患者。广泛的视网膜功能障碍可能与 CTG 重复扩增有关，其长度明显长于 DM1 患者的平均重复数。
