Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, UK.
BMJ Open Ophthalmol. 2024 Aug 29;9(1):e001832. doi: 10.1136/bmjophth-2024-001832.
To assess peripapillary retinal nerve fibre layer (pRNFL) thickness in patients with X-linked retinoschisis (XLRS), as pRNFL thinning may limit functional improvements in gene therapy trials.
This retrospective multicentre study included 49 eyes from 25 patients diagnosed with XLRS. Data collected with multimodal imaging at baseline and last follow-up (when available) included age, best-recorded visual acuity (BRVA), central retinal thickness, macular volume (MV), presence and location of peripheral retinoschisis and pRNFL thickness in the global (G), superotemporal (TS), superonasal (NS), inferotemporal (TI), inferonasal (NI), nasal (N) and temporal (T) sectors. Retinal sensitivity, assessed by microperimetry, was also recorded for seven patients at baseline.
pRNFL was thinner (below the fifth percentile) in at least one sector in 72% of right eyes and 79% of left eyes, with thinning across three or more sectors in 20% of right and 17% of left eyes. In 44% of cases, thinning occurred in the temporal sectors of both eyes, with no nasal sectoral thinning. Number of peripheral retinoschisis quadrants matched thinned pRNFL sectors. A strong positive correlation was found between MV and temporal pRNFL thickness (=0.71, p<0.01), while weak negative correlation trends were noted with age (p=0.05) and BRVA (logMAR; p=0.12) related to temporal thickness of pRNFL sectors.
pRNFL thinning, predominantly sectoral and linked to macular or peripheral retinoschisis, occurs in about three-quarters of patients with XLRS, while diffuse thinning occurs in one-fifth. Temporal pRNFL thinning might occur only after the collapse of intraretinal cystoid cavities in the macula.
评估 X 连锁性视网膜劈裂症（XLRS）患者的视盘周围视网膜神经纤维层（pRNFL）厚度，因为 pRNFL 变薄可能会限制基因治疗试验中的功能改善。
本回顾性多中心研究纳入了 25 名确诊为 XLRS 的患者的 49 只眼。在基线和最后一次随访（如果有）时，使用多模态成像收集的数据包括年龄、最佳记录视力（BRVA）、中心视网膜厚度、黄斑体积（MV）、周边视网膜劈裂的存在和位置以及全球（G）、上颞（TS）、上鼻（NS）、下颞（TI）、下鼻（NI）、鼻（N）和颞（T）区的 pRNFL 厚度。还记录了 7 名患者在基线时的微视野评估的视网膜敏感度。
在 72%的右眼和 79%的左眼至少有一个象限的 pRNFL 变薄（低于第五百分位），20%的右眼和 17%的左眼有三个或更多象限的变薄。在 44%的病例中，双眼的颞区出现变薄，没有鼻区的变薄。周边视网膜劈裂的象限数量与变薄的 pRNFL 象限相匹配。MV 与颞部 pRNFL 厚度呈强正相关（r=0.71，p<0.01），而年龄（p=0.05）和 BRVA（logMAR；p=0.12）与颞部 pRNFL 厚度呈弱负相关趋势。
大约四分之三的 XLRS 患者存在 pRNFL 变薄，主要是象限性的，与黄斑或周边视网膜劈裂有关，而五分之一的患者存在弥漫性变薄。颞部 pRNFL 变薄可能仅在视网膜内囊腔在黄斑区塌陷后发生。
