Prétot Dominique, Della Volpe Waizel Maria, Kaminska Karolina, Valmaggia Philippe, Placidi Giorgio, Falsini Benedetto, Fries Fabian N, Szentmáry Nóra, Rivolta Carlo, Scholl Hendrik P N, Calzetti Giacomo
Department of Ophthalmology, University Hospital Basel, University of Basel, Basel, Switzerland.
Heuberger Eye Clinic, Olten, Switzerland.
Graefes Arch Clin Exp Ophthalmol. 2025 Feb;263(2):379-385. doi: 10.1007/s00417-024-06659-8. Epub 2024 Oct 12.
To measure the retinal oxygen metabolic function with retinal oximetry (RO) in patients with choroideremia (CHM) and compare these findings with retinitis pigmentosa (RP) patients and controls.
Prospective observational study including 18 eyes of 9 molecularly confirmed CHM patients (9♂; 40.2 ± 21.2 years (mean ± SD), 77 eyes from 39 patients with RP (15♀ 24♂; 45.6 ± 14.7 years) and 100 eyes from 53 controls (31♀ 22♂; 40.2 ± 13.4 years). Main outcome parameters were the mean arterial (A-SO; %), venular (V-SO; %) oxygen saturation, and their difference (A-V SO; %) recorded with the oxygen saturation tool of the Retinal Vessel Analyzer (IMEDOS Systems UG, Germany). Statistical analyses were performed with linear mixed-effects models.
Eyes suffering from CHM differed significantly from both RP and control eyes, when the retinal oxygen metabolic parameters were taken into account. While RP showed significantly higher A-SO and V-SO values when compared to controls, CHM showed opposite findings with significantly lower values when compared to both RP and controls (P < 0.001). The A-V SO, which represents the retinal oxygen metabolic consumption, showed significantly lower values in CHM compared to controls.
The retina in CHM is a relatively hypoxic environment. The decrease in oxygen levels may be due to the profound choroidal degeneration, leading to decreased oxygen flux to the retina. RO measurements may help understand the pathogenesis of CHM and RP. These findings may provide useful details to inform the planning of clinical trials of emerging therapies for CHM.
What was known before? Retinal oxygen metabolic function measured with retinal oximetry (RO) shows significant alterations in patients with retinitis pigmentosa.
RO function in choroideremia is significantly altered when compared to controls. Furthermore, RO in choroideremia shows opposing findings within different oxygen metabolic parameters to those that were so far known for retinitis pigmentosa. By providing insights into the retinal oxygen metabolic mechanisms, RO can help understand the underlying pathophysiology in choroideremia.
采用视网膜血氧测定法（RO）测量脉络膜视网膜炎（CHM）患者的视网膜氧代谢功能，并将这些结果与色素性视网膜炎（RP）患者及对照组进行比较。
前瞻性观察性研究，纳入9例经分子确诊的CHM患者的18只眼（9例男性；40.2±21.2岁（均值±标准差））、39例RP患者的77只眼（15例女性，24例男性；45.6±14.7岁）以及53例对照组的100只眼（31例女性，22例男性；40.2±13.4岁）。主要观察指标为使用视网膜血管分析仪（德国IMEDOS Systems UG公司）的血氧饱和度工具记录的平均动脉血氧饱和度（A-SO；%）、静脉血氧饱和度（V-SO；%）及其差值（A-V SO；%）。采用线性混合效应模型进行统计分析。
在考虑视网膜氧代谢参数时，CHM患者的眼睛与RP患者及对照组的眼睛存在显著差异。与对照组相比，RP患者的A-SO和V-SO值显著更高，而CHM患者与RP患者及对照组相比，结果相反，其值显著更低（P<0.001）。代表视网膜氧代谢消耗的A-V SO在CHM患者中显著低于对照组。
CHM患者的视网膜处于相对缺氧的环境。氧水平降低可能是由于脉络膜严重变性，导致视网膜的氧通量减少。RO测量可能有助于了解CHM和RP的发病机制。这些发现可能为CHM新兴疗法的临床试验规划提供有用的细节。
此前已知什么？采用视网膜血氧测定法（RO）测量的视网膜氧代谢功能在色素性视网膜炎患者中显示出显著改变。
本研究补充了什么？与对照组相比，CHM患者的RO功能显著改变。此外，CHM患者的RO在不同氧代谢参数方面的结果与迄今已知的色素性视网膜炎相反。通过深入了解视网膜氧代谢机制，RO有助于理解CHM的潜在病理生理学。
