Järvinen Mira A, Baraas Rigmor C, Majander Anna, Backlund Michael P, Krootila Julia, Paavo Maarjaliis, Lindahl Päivi, Vasara Kristiina, Sankila Eeva-Marja, Kivelä Tero T, Turunen Joni A
Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
National Centre for Optics, Vision and Eye Care, Faculty of Health and Social Sciences, University of South-Eastern Norway, Kongsberg, Norway.
Acta Ophthalmol. 2025 Mar;103(2):196-204. doi: 10.1111/aos.16776. Epub 2024 Oct 22.
To describe clinical characteristics in Finnish patients with X-linked retinoschisis (XLRS) longitudinally with emphasis on retinal morphology and genotype-phenotype correlations.
A retrospective cohort study reviewed medical records from patients with genetically confirmed XLRS from the Department of Ophthalmology, Helsinki University Hospital. Best-corrected visual acuity (BCVA), refraction, colour fundus photography, spectral-domain optical coherence tomography and genetic information were collected.
Fifty-two males were diagnosed at the median age of 7 years (range 1-57) and followed for a median of 8 years (range, 1-49). Baseline findings included macular retinoschisis in 92 (89%), macular atrophy in 25 (24%) and peripheral retinoschisis in 22 (21%) eyes. Vitreous haemorrhage occurred in 10 (10%) eyes, more frequently with peripheral schisis (p < 0.001). Nearly half of the patients, 22 (42%) were classified as visually impaired according to WHO. Median central retinal thickness was similar between initial (355 μm) and latest visits (360 μm) (p = 0.781). Low BCVA was associated with macular atrophy (p < 0.001), ellipsoid zone disruption (p = 0.007) and peripheral retinoschisis (p = 0.006). The three Finnish founder mutations c.214G >A, c.221G >T, and c.325G >C in exon 4 of retinoschisin 1 (RS1) were identified in 40 patients (77%). No associations were found between the genotypes and phenotypes.
Three-fourths of the patients carried the Finnish founder mutations in RS1, but we did not detect any genotype-phenotype association. Macular atrophy was associated with the poorest visual acuity. Ocular compilations were associated with peripheral retinoschisis, suggesting that these patients should be followed more frequently.
纵向描述芬兰X连锁视网膜劈裂症（XLRS）患者的临床特征，重点关注视网膜形态以及基因型与表型的相关性。
一项回顾性队列研究对赫尔辛基大学医院眼科经基因确诊的XLRS患者的病历进行了回顾。收集了最佳矫正视力（BCVA）、验光、彩色眼底照相、光谱域光学相干断层扫描和基因信息。
52名男性患者确诊时的中位年龄为7岁（范围1 - 57岁），随访的中位时间为8年（范围1 - 49年）。基线检查结果包括92只眼（89%）出现黄斑视网膜劈裂，25只眼（24%）出现黄斑萎缩，22只眼（21%）出现周边视网膜劈裂。10只眼（10%）发生玻璃体积血，周边劈裂时更常见（p < 0.001）。根据世界卫生组织的标准，近一半的患者，即22名（42%）被归类为视力受损。初始检查时的中央视网膜厚度中位数（355μm）与最近一次检查时（360μm）相似（p = 0.781）。低BCVA与黄斑萎缩（p < 0.001）、椭圆体带破坏（p = 0.007）和周边视网膜劈裂（p = 0.006）相关。在40名患者（77%）中鉴定出视网膜劈裂蛋白1（RS1）第4外显子的三个芬兰始祖突变c.214G>A、c.221G>T和c.325G>C。未发现基因型与表型之间存在关联。
四分之三的患者携带RS1基因的芬兰始祖突变，但我们未检测到任何基因型与表型的关联。黄斑萎缩与最差的视力相关。眼部并发症与周边视网膜劈裂相关，提示应对这些患者进行更频繁的随访。
