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首页> 外文期刊>JAMA ophthalmology >Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene
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Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene

机译：患有III型综合征的患者的锥体结构和Clarin 1基因的突变

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摘要

Objective: To study macular structure and function in patients with Usher syndrome type III (USH3) caused by mutations in the Clarin 1 gene (CLRN1). Methods: High-resolution macular images were obtained by adaptive optics scanning laser ophthalmos-copy and spectral domain optical coherence tomography in 3 patients with USH3 and were compared with those of age-similar control subjects. Vision function measures included best-corrected visual acuity, kinetic and static perimetry, and full-field electroretinography. Coding regions of the CLRN1 gene were sequenced. Results: CLRN1 mutations were present in all the patients; a 20-year-old man showed compound heterozygous mutations (p.N48K and p.S188X), and 2 unrelated women aged 25 and 32 years had homozygous mutations (p.N48K). Best-corrected visual acuity ranged from 20/16 to 20/40, with scotomas beginning at 3° eccentricity. The inner segment-outer segment junction or the inner segment ellipsoid band was disrupted within 1° to 4° of the fovea, and the foveal inner and outer segment layers were significantly thinner than normal. Cones near the fovea in patients 1 and 2 showed normal spacing, and the preserved region ended abruptly. Retinal pigment epithelial cells were visible in patient 3 where cones were lost. Conclusions: Cones were observed centrally but not in regions with scotomas, and retinal pigment epithelial cells were visible in regions without cones in patients with CLRN1 mutations. High-resolution measures of retinal structure demonstrate patterns of cone loss associated with CLRN1 mutations. Clinical Relevance: These findings provide insight into the effect of CLRN1 mutations on macular cone structure, which has implications for the development of treatments for USH3.
机译：目的：研究由Clarin 1基因（CLRN1）突变引起的III型Usher综合征（USH3）患者的黄斑结构和功能。方法：通过自适应光学扫描激光眼科检查和光谱域光学相干断层扫描获得3例USH3患者的高分辨率黄斑图像，并将其与年龄相似的对照组进行比较。视觉功能测量包括最佳矫正视力，动静视野和全场视网膜电图。对CLRN1基因的编码区进行了测序。结果：所有患者均存在CLRN1突变。一名20岁的男子表现出复合杂合突变（p.N48K和p.S188X），两名年龄在25和32岁的无关女性有纯合突变（p.N48K）。最佳矫正视力的范围从20/16到20/40，视mas开始于3°偏心率。在中央凹的1°至4°范围内，内侧节段-外侧节段连接处或内侧节段椭球带断裂，并且中央节的内侧节段和外侧节段层明显薄于正常层。 1号和2号患者中凹附近的锥体显示正常间距，并且保留区域突然结束。视网膜色素上皮细胞可见于患者3，视锥丢失。结论：在CLRN1突变患者中，中心观察到锥体，但在具有肉瘤的区域中没有观察到，并且在没有视锥细胞的区域中可见视网膜色素上皮细胞。高分辨率的视网膜结构测量结果显示与CLRN1突变相关的视锥细胞丢失的模式。临床意义：这些发现提供了对CLRN1突变对黄斑锥体结构影响的见解，这对USH3治疗方法的发展具有重要意义。

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