Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene
Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene
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DOI：
10.1001/2013.jamaophthalmol.2
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发表时间：
2013-01-01
影响因子：
8.1
通讯作者：
Duncan, Jacque L.
中科院分区：
文献类型：
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作者：
Ratnam, Kavitha;Vastinsalo, Hanna;Duncan, Jacque L.
目的：研究Clarin 1基因（CLRN1）突变引起的Usher综合征III型（USH3）患者黄斑结构和功能。方法：对3例USH3患者采用自适应光学扫描激光检眼镜和光谱域光学相干断层扫描获得高分辨率黄斑图像，并与年龄相近的对照组进行比较。视觉功能测量包括最佳矫正视力，动态和静态视野，以及全视野视网膜电图。对CLRN1基因的编码区进行测序。结果：所有患者均存在CLRN1突变；1名20岁男性出现复合杂合突变（p.N48K和p.S188X）， 2名25岁和32岁的无亲缘关系女性出现纯合突变（p.N48K）。最佳矫正视力范围为20/16至20/40，暗斑开始于偏心度3度。在距中央窝1 ~ 4度范围内，内节-外节连接处或内节椭球带断裂，中央窝内外节层明显变薄。患者1和2的中心凹附近的视锥细胞间距正常，保留区域突然终止。患者3视锥细胞丢失，可见视网膜色素上皮细胞。结论：CLRN1突变患者的视网膜色素上皮细胞在无视锥细胞的区域可见，而在无视锥细胞的区域可见。视网膜结构的高分辨率测量显示与CLRN1突变相关的锥体丢失模式。
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 ophthalmoscopy 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 degrees eccentricity. The inner segment-outer segment junction or the inner segment ellipsoid band was disrupted within 1 degrees to 4 degrees 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.