Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population
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DOI：
10.1007/s10384-023-00975-y
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发表时间：
2023-01-17
影响因子：
2.4
通讯作者：
Maeda，Akiko
中科院分区：
文献类型：
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作者：
Sakai，Daiki;Hiraoka，Masakazu;Maeda，Akiko
目的明确日本人群中视紫红质（RHO）相关性视网膜色素变性（RP）的基因型和表型特征。研究设计横断面、单中心研究方法回顾了2008年11月至2021年9月期间在我们诊所接受基因检测的1336例RP患者的病历，其中包括RHO变异体的患者。根据之前的报告，将患者分为 A 类和 B 类，以评估基因型-表型相关性。比较两组的临床结果，包括最佳矫正视力 (BCVA)、OCT 参数（椭圆体区 [EZ] 宽度和中央视网膜厚度 [CRT]）以及是否存在黄斑变性。 结果 该研究纳入了 28 名诊断为 RHO 相关 RP 的患者（A 类，19 例；B 类，9 例）。 A 类患者的 BCVA 显着差于 B 类患者（P = 0.045）。 A 类患者的上 EZ 宽度显着短于 B 类患者 (P= 0.016)。 A 类患者往往比 B 类患者具有更薄的 CRT 和更短的下 EZ 宽度，尽管这种差异并不显着。 61.5% 的 A 类患者和 12.5% 的 B 类患者出现黄斑变性，这表明黄斑变性可能是 A 类变异的常见并发症。 结论 在日本人群中，A 类变异患者的 RP 比 B 类变异患者的 RP 更严重。这些结果表明，RHO 相关 RP 的表型与变异的位置相关，并且这种基因型-表型相关性受不同遗传背景的种族的影响较小。
PurposeTo identify the genotypic and phenotypic characteristics of rhodopsin (RHO)-associated retinitis pigmentosa (RP) in the Japanese population.Study designCross-sectional, single-center studyMethodsThe medical records of 1336 patients with RP who underwent genetic testing at our clinic between November 2008 and September 2021 were reviewed, and patients withRHOvariants were included. The patients were divided into class A and class B to assess genotype–phenotype correlations based on previous reports. The clinical findings, including best-corrected visual acuity (BCVA), OCT parameters (ellipsoid zone [EZ] width and central retinal thickness [CRT]), and presence of macular degeneration, of the 2 groups were compared.ResultsThe study included 28 patients diagnosed withRHO-associated RP (class A, 19; class B, 9). The BCVA was significantly worse in class A patients than in class B patients (P= 0.045). Superior EZ width was significantly shorter in class A than in class B patients (P= 0.016). Class A patients tended to have thinner CRT and shorter inferior EZ width than those of class B patients, although this difference was not significant. Macular degeneration was observed in 61.5% of class A and 12.5% of class B patients, demonstrating that macular degeneration can be a common complication in class A variants.ConclusionPatients with class A variants presented with a severer form of RP than that of patients with class B variants in the Japanese population. These results suggest that the phenotype ofRHO-associated RP is linked to the location of the variants and that such a genotype–phenotype correlation is less affected by ethnicities with different genetic backgrounds.