Department of Ophthalmology, University of Melbourne, Melbourne, Australia.
Ocular Genetics Clinic, The Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
Ophthalmic Genet. 2021 Dec;42(6):765-767. doi: 10.1080/13816810.2021.1946705. Epub 2021 Jul 5.
X-linked retinoschisis (XLRS) is an inherited retinal condition that leads to schisis of the retina. In the past, treatment trials for XLRS have generally used OCT monitoring of the schitic cavities as the primary structural outcome measure and best corrected visual acuity as the primary functional outcome. Here, we report two cases of genetically confirmed XLRS with marked fluctuations in OCT morphology in the absence of treatment. Given this demonstration of spontaneous fluctuation in retinal structure on OCT in XLRS we suggest that alternative measures of retinal function should be used in future therapeutic trials in XLRS.
X 连锁性视网膜炎劈裂症(XLRS)是一种遗传性视网膜疾病,可导致视网膜劈裂。过去,XLRS 的治疗试验通常使用 OCT 监测劈裂腔作为主要的结构结果测量指标,以及最佳矫正视力作为主要的功能结果。在这里,我们报告了两例遗传性 XLRS 病例,在未治疗的情况下 OCT 形态有明显波动。鉴于在 XLRS 中 OCT 上视网膜结构的自发波动的这种表现,我们建议在未来的 XLRS 治疗试验中使用视网膜功能的替代测量方法。