Lee Seok Jae, Jiang Hui, Jeong Hyun Chul, Jo Dong Hyun, Song Hyun Beom, Gee Heon Yung, Lee Ki Hwang, Kim Jeong Hun
Fight against Angiogenesis-Related Blindness (FARB) Laboratory, Clinical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea; Global Excellence Center for Gene & Cell Therapy (GEC-GCT), Seoul National University Hospital, Seoul, Republic of Korea; Department of Ophthalmology, College of Medicine, Seoul National University, Seoul, Republic of Korea.
Fight against Angiogenesis-Related Blindness (FARB) Laboratory, Clinical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea; Global Excellence Center for Gene & Cell Therapy (GEC-GCT), Seoul National University Hospital, Seoul, Republic of Korea; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
Ophthalmol Retina. 2025 Mar;9(3):288-298. doi: 10.1016/j.oret.2024.09.007. Epub 2024 Sep 16.
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.
Retrospective, observational study.
Data from 83 consecutive male patients with molecularly confirmed XLRS were collected retrospectively.
Clinical evaluation included best-corrected visual acuity (BCVA), fundus photography, spectral domain OCT (SD-OCT), and full-field electroretinography (ERG).
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.
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.
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.
FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.
通过检查一组韩国X连锁青少年视网膜劈裂症（XLRS）患者的临床和基因特征，评估XLRS基因型与表型严重程度之间的相关性。
回顾性观察研究。
回顾性收集了83例经分子确诊的男性XLRS患者的数据。
临床评估包括最佳矫正视力（BCVA）、眼底照相、频域光学相干断层扫描（SD-OCT）和全视野视网膜电图（ERG）。
基于突变类型（截短型与错义型）和分泌情况（分泌型与非分泌型），评估一组韩国小儿XLRS患者的表型特征。
共纳入83例患者的166只眼。诊断时的平均年龄为6.1±8.8岁（范围0.5 - 20.7岁），平均随访时间为9.2±7.0岁（范围0.6 - 24.3岁）。首次和末次检查时的BCVA范围从光感至最小分辨角对数视力0.1（均值±标准差，分别为0.75±0.59和0.82±0.65）。截短型（0.71±0.51和0.75±0.44）与错义型（0.77±0.59和0.84±0.66）变异之间未观察到显著差异（P = 0.678和0.551）。眼底照相、SD-OCT和ERG的临床参数无差异。然而，分泌型组的BCVA（0.51±0.24和0.61±0.30）优于非分泌型组（0.65±0.71和0.87±0.81），末次BCVA有显著差异（P = 0.021）。OCT显示非分泌型组椭圆体带破坏的频率更高（P = 0.030），其他参数无显著差异。
视网膜劈裂蛋白1（RS1）的分泌情况可能影响XLRS表型的严重程度。与RS1非分泌型组相比，RS1分泌型突变体患者，尤其是八聚体化完整的患者，表现出更一致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与表型的相关性提供了见解。
作者对本文讨论的任何材料均无所有权或商业利益。
