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首页> 外文期刊>Ophthalmic genetics >Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
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Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

机译：Danon疾病呈现早期发作的肥大心肌病和外周颜料视网膜营养不良症的灯具中的灯泡2基因中的DE Novo新型马赛克突变

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Purpose: To describe the phenotype and genotype in a young woman with Danon disease. Methods: The patient underwent an ophthalmic examination including best corrected visual acuity (BCVA), fundus photography and fundus autofluorescence (FAF), full-field electroretinography (full-field ERG), multifocal ERG, optical coherence tomography (OCT) and SAP-Humphrey 30-2 at the ages of 20 and 25. Electrooculography, fluorescein angiography (FA), indocyanine angiography and OCT angiography were performed only once. Genetic testing using a Next-Generation Sequencing panel and immunohistochemical analysis of LAMP2 protein expression were performed in the patient's explanted heart, and the patient's cardiologic and ophthalmologic records were retrospectively reviewed. Results: A de novo, novel, mosaic mutation, c.135dupA; p.(Trp46Metfs*10) was identified in exon 2 of the LAMP2 gene. Immunohistochemical investigation of the myocardium in the explanted heart revealed pronounced deficiency of LAMP2 protein in cardiomyocytes. The color photographs, FAF images and FA revealed more extensive peripheral pigmentary retinal dystrophy (PPRD) at the 5-year follow-up examination. No changes were observed in BCVA, OCT, SAP-Humphrey 30-2 or multifocal ERG findings at follow-up. Full-field ERG showed an asymmetric interocular reduction in ERG response at follow-up: the b-wave amplitude of the rod response had decreased by 29% in the right eye, but by only 6 % in the left eye. The a-wave amplitude of single-flash response had decreased by 9 % in the left eye, while it had increased by 3% in the right eye. Conclusions: Although PPRD progressed slowly, it was an important clue in the diagnosis of the life-threatening condition of Danon disease.
机译：目的：描述一名少妇中的表型和基因型。方法：患者经历了眼科检查，包括最佳矫正视力（BCVA），眼底摄影和眼底自发（FAF），全场电型造影（全场ERG），多焦点ERG，光学相干断层扫描（OCT）和SAP-HUMPREY 30-2年龄在20岁和25岁以下。电胶，荧光素血管造影（FA），吲哚菁血管造影和OCT血管造影仅进行一次。使用下一代测序面板和灯2蛋白表达免疫组织化学分析在患者的外植入心脏中进行遗传测试，并回顾性审查患者的心脏病和眼科记录。结果：DE NOVO，小说，马赛克突变，C.135DUPA; p。（TRP46METFS * 10）在灯泡2基因的外显子2中鉴定出来。脱盐心脏心肌的免疫组织化学研究显示心肌细胞灯2蛋白的明显缺乏。彩色照片，FAF图像和FA在5年的随访检查中揭示了更广泛的外周色素视网膜染素（PPRD）。在后续行动中，BCVA，OCT，SAP-HUMPHREY 30-2或多焦点ERG调查结果没有观察到任何变化。全场ERG在随访时显示出ERG响应的不对称间隔减少：杆响应的B波振幅在右眼中减少了29％，但左眼只有6％。单闪光响应的A波幅度在左眼中减少了9％，而右眼增加了3％。结论：虽然PPRD缓慢进行了进展，但它是诊断危及丹参病的危及生命状况的重要条件。

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