83 例韩国 X 连锁视网膜裂伤患者的基因型与表型相关性：RS1分泌曲线对临床表型的影响

IF 4.4 Q1 OPHTHALMOLOGY

Ophthalmology. Retina Pub Date : 2025-03-01 DOI:10.1016/j.oret.2024.09.007

Seok Jae Lee MD, PhD , Hui Jiang BM , Hyun Chul Jeong MD , Dong Hyun Jo MD, PhD , Hyun Beom Song MD, PhD , Heon Yung Gee MD, PhD , Ki Hwang Lee MD, PhD , Jeong Hun Kim MD, PhD

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引用次数: 0

摘要

目的：通过研究一组韩国 XLRS 患者的临床和遗传特征，评估 X 连锁幼年视网膜裂伤（XLRS）的基因型和表型严重程度之间的相关性：设计：回顾性观察研究：方法：临床评估包括最佳校正视力（best-crected-core）和遗传学评估：临床评估包括最佳矫正视力（BCVA）、眼底照相、光谱域光学相干断层扫描（SD-OCT）和全视场视网膜电图（ERG）：根据突变类型（截断型与错义型）和分泌型（分泌型与非分泌型）评估了一组韩国儿童 XLRS 患者的表型特征：结果：共纳入 83 名患者的 166 只眼睛。确诊时的平均年龄为 6.1 ± 8.8 岁（范围为 0.5-20.7 岁），平均随访时间为 9.2 ± 7.0 年（范围为 0.6-24.3 年）。首次和最后一次检查时的 BCVA 范围从光感度到最小解像角的 0.1 对数（平均值±标准差，分别为 0.75 ± 0.59 和 0.82 ± 0.65）。截断变异型（0.71 ± 0.51 和 0.75 ± 0.44）和错义变异型（0.77 ± 0.59 和 0.84 ± 0.66）的首次和最后一次 BCVA 测量结果没有明显差异（P = 0.678 和 0.551）。此外，眼底照相、SD-OCT 和全视野 ERG 的临床参数也没有差异。然而，与非分泌组患者（0.65 ± 0.71 和 0.87 ± 0.81）相比，分泌组患者首次和最后一次测量的 BCVA 更好（0.51 ± 0.24 和 0.61 ± 0.30）。两组患者最后的 BCVA 差异具有统计学意义（P = 0.021）。OCT结果显示，非分泌变异患者的椭圆形区破坏频率高于分泌变异患者（P = 0.030），其他参数无显著差异：结论：RS1的分泌谱可影响XLRS表型的严重程度。RS1分泌突变体的患者，尤其是八聚体化完整的患者，与RS1无分泌组相比，表现出更均匀的表型和更好的视力。这些数据为临床和研究领域研究基因型和表型的相关性提供了启示。

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Genotype–Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients

Purpose

To assess the correlation between genotype and phenotype severity in X-linked juvenile retinoschisis (XLRS) by examining clinical and genetic features of a cohort of Korean XLRS patients.

Design

Retrospective, observational study.

Participants

Data from 83 consecutive male patients with molecularly confirmed XLRS were collected retrospectively.

Methods

Clinical evaluation included best-corrected visual acuity (BCVA), fundus photography, spectral domain OCT (SD-OCT), and full-field electroretinography (ERG).

Main Outcome Measures

The phenotypic characteristics of a cohort of pediatric Korean patients with XLRS, based on mutation types (truncating vs. missense) and secretory profile (secretion vs. nonsecretion), were assessed.

Results

A total of 166 eyes of 83 patients were included. The mean age at diagnosis was 6.1 ± 8.8 years (range, 0.5–20.7 years), with a mean follow-up time of 9.2 ± 7.0 years (range, 0.6–24.3 years). The BCVA at first and last examination ranged from light perception to 0.1 logarithm of the minimum angle of resolution (mean ± standard deviation, 0.75 ± 0.59 and 0.82 ± 0.65, respectively). No significant differences were observed between the truncating (0.71 ± 0.51 and 0.75 ± 0.44) and missense (0.77 ± 0.59 and 0.84 ± 0.66) variants (P = 0.678 and 0.551). Clinical parameters from fundus photography, SD-OCT, and ERG showed no differences. However, BCVA was better for the secretion group (0.51 ± 0.24 and 0.61 ± 0.30) than for the nonsecretion group (0.65 ± 0.71 and 0.87 ± 0.81), with a significant difference in the last BCVA (P = 0.021). OCT revealed a higher frequency of ellipsoid zone disruption in the nonsecretion group (P = 0.030), with no significant differences in other parameters.

Conclusions

The secretion profile of Retinoschisin 1 (RS1) could influence the severity of XLRS phenotypes. Patients with RS1-secreted mutants, particularly with intact octamerization, exhibit more homogeneous phenotypes and better visual acuity than the RS1-nonsecreted group. This data provide insights for studying genotype and phenotype correlations in both clinical and research fields.