Kjellström Sten, Vijayasarathy Camasamudram, Ponjavic Vesna, Sieving Paul A, Andréasson Sten
Department of Ophthalmology, Lund University, Lund, Sweden.
Ophthalmic Genet. 2010 Sep;31(3):114-25. doi: 10.3109/13816810.2010.482555.
To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood.
Ten patients clinically diagnosed with XLRS were investigated at 6-15 years of age (mean age 9 years) with a follow-up 8 to 14 years later (mean 12 years). The patients underwent regular ophthalmic examination as well as testing of best corrected visual acuity (BCVA), visual field (VF) and assessment of full-field electroretinography (ERG) during their first visit. During the follow-up, the same clinical protocols were repeated. In addition, macular structure and function was examined with multifocal electroretinography (mfERG) and optical coherence tomography (OCT). The patients were 18-25 years of age (mean age 21 years) at the follow-up examination. All exons and exon-intron boundaries of RS1-gene were sequenced for gene mutations in 9 out of the 10 patients.
Best corrected VA and VF were stable during this follow-up period. No significant progression in cone or rod function could be measured by full-field ERG. Multifocal electroretinography and OCT demonstrated a wide heterogeneity of macular changes in retinal structure and function at the time of follow-up visit. Three different mutations were detected in these nine patients, including a known nonsense mutation in exon 3, a novel insertion in exon 5 and an intronic mutation at 5' splice site of intron 3.
Clinical follow-up (mean 12 years) of ten young XLRS patients (mean age of 9 years) with a typical congenital retinoschisis phenotype revealed no significant decline in retinal function during this time period. MfERG and OCT demonstrated a wide variety of macular changes including structure and dysfunction. The XLRS disease was relatively stable during this period of observation and would afford opportunity for therapy studies to judge benefit against baseline and against the fellow eye.
研究X连锁视网膜劈裂症（XLRS）从儿童期到成年期进展过程中的视网膜结构和功能。
对10例临床诊断为XLRS的患者进行研究，这些患者在6至15岁（平均年龄9岁）时接受检查，并在8至14年后（平均12年）进行随访。患者在首次就诊时接受常规眼科检查以及最佳矫正视力（BCVA）、视野（VF）测试和全视野视网膜电图（ERG）评估。在随访期间，重复相同的临床方案。此外，用多焦视网膜电图（mfERG）和光学相干断层扫描（OCT）检查黄斑结构和功能。随访检查时患者年龄为18至25岁（平均年龄21岁）。对10例患者中的9例进行RS1基因所有外显子和外显子-内含子边界的测序以检测基因突变。
在该随访期间，最佳矫正视力和视野保持稳定。全视野ERG未检测到视锥或视杆功能有显著进展。多焦视网膜电图和OCT显示随访时黄斑在视网膜结构和功能方面存在广泛的异质性变化。在这9例患者中检测到三种不同的突变，包括外显子3中已知的无义突变、外显子5中的新插入突变以及内含子3 5'剪接位点的内含子突变。
对10例具有典型先天性视网膜劈裂症表型的年轻XLRS患者（平均年龄9岁）进行平均12年的临床随访发现，在此期间视网膜功能无显著下降。mfERG和OCT显示黄斑有多种变化，包括结构和功能障碍。在该观察期内，XLRS疾病相对稳定，这将为治疗研究提供机会，以判断相对于基线和对侧眼的获益情况。
