Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Acta Ophthalmol. 2019 Jun;97(4):e589-e600. doi: 10.1111/aos.13973. Epub 2018 Dec 21.
Choroideremia is a currently incurable X-linked recessive retinal degeneration that leads to blindness. Gene therapy approaches to date target the outer retinal layers. However, the choroideremia (CHM) gene is expressed in all retinal layers, and a previous study on a small cohort of choroideremia patients suggested possible thinning of the retinal nerve fibre layer (RNFL). The purpose of the study was to examine the RNFL in detail using advanced imaging techniques in a larger cohort of choroideremia patients.
Spectral domain optical coherence tomography of the peripapillary RNFL acquired with the Heidelberg Spectralis HRA circular scan mode were analysed retrospectively in 41 eyes of 21 choroideremia patients aged 39.6 years (±3.7 SEM). As age-matched controls, 20 eyes from 10 patients with retinitis pigmentosa and 56 eyes from 28 healthy individuals were also assessed. Automated RNFL segmentation was adjusted manually to precisely delineate the RNFL. The data were also compared against an external normative database.
Mean peripapillary RNFL thickness in choroideremia was 130 ± 3 μm in the right eye (OD) and 133 ± 3 μm in the left eye (OS). This was 24% and 27% thicker than RNFL thickness in the controls (p < 0.001 for both). Patients with retinitis pigmentosa also showed an increase in RNFL thickness, which was no different to the choroideremia cohort (p > 0.05). Compared with manual analysis, the automated function of the inbuilt software was consistently inaccurate in segmenting the RNFL in choroideremia.
The RNFL is significantly thicker in choroideremia compared with age-matched normal controls, which was similar to what was seen in retinitis pigmentosa.
脉络膜视网膜炎是一种目前无法治愈的 X 连锁隐性视网膜退行性疾病，可导致失明。迄今为止，基因治疗方法针对的是外视网膜层。然而，脉络膜视网膜炎（CHM）基因在所有视网膜层中均有表达，先前对一小部分脉络膜视网膜炎患者的研究表明，神经纤维层（RNFL）可能变薄。本研究的目的是使用先进的成像技术在更大的脉络膜视网膜炎患者队列中详细检查 RNFL。
回顾性分析 21 例脉络膜视网膜炎患者 41 只眼（年龄 39.6±3.7 SEM 岁）的海德堡 Spectralis HRA 环形扫描模式下的周边 RNFL 光谱域光学相干断层扫描。作为年龄匹配的对照组，评估了 10 例视网膜色素变性患者的 20 只眼和 28 例健康个体的 56 只眼。自动 RNFL 分割通过手动调整以精确描绘 RNFL。还将数据与外部标准数据库进行了比较。
右眼（OD）脉络膜视网膜炎的平均周边 RNFL 厚度为 130±3μm，左眼（OS）为 133±3μm。这比对照组的 RNFL 厚度分别厚 24%和 27%（p<0.001）。视网膜色素变性患者的 RNFL 厚度也增加，与脉络膜视网膜炎组无差异（p>0.05）。与手动分析相比，内置软件的自动功能在分割脉络膜视网膜炎的 RNFL 时始终不准确。
与年龄匹配的正常对照组相比，脉络膜视网膜炎的 RNFL 明显增厚，与视网膜色素变性所见相似。
