Steensberg Alvilda H, Malmqvist Lasse, Bertelsen Mette, Kessel Line, Grønskov Karen, Hamann Steffen
Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.
Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Front Ophthalmol (Lausanne). 2024 Dec 5;4:1476911. doi: 10.3389/fopht.2024.1476911. eCollection 2024.
Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration. In a recent study, we reported co-existing optic disc drusen (ODD) at 30%, a prevalence 15 times higher than in the general population. The aims of this study were to a) assess if macular retinal nerve fiber layer thickness (RNFLt) was increased in our cohort of RP patients and b) compare RNFLt between RP patients with and without ODD.
In this analysis, optical coherence tomography (OCT) scans of patients with RP and healthy controls were manually delineated, and macular RNFLt measurements were obtained. The analyses were conducted both a) for RP patients without ODD compared to controls and b) for RP patients with and without ODD.
OCT scans of 32 patients with RP and 13 healthy controls were included. Macular RNFLt was significantly increased in RP patients compared to healthy controls and in RP patients with ODD compared to RP patients without ODD.
Further studies will explore whether increased RNFLt leads to ODD development through dystrophic calcification or, conversely, if ODD in combination with RP-associated retinal ganglion cell damage causes the increased RNFLt through retrograde axoplasmic stasis.
视网膜色素变性（RP）是一组以进行性光感受器变性为特征的遗传性视网膜营养不良。在最近的一项研究中，我们报告共存视盘玻璃疣（ODD）的发生率为30%，是普通人群的15倍。本研究的目的是：a）评估我们的RP患者队列中黄斑视网膜神经纤维层厚度（RNFLt）是否增加；b）比较有和没有ODD的RP患者之间的RNFLt。
在本分析中，对RP患者和健康对照者的光学相干断层扫描（OCT）图像进行手动描绘，并获得黄斑RNFLt测量值。分析分别针对：a）无ODD的RP患者与对照者；b）有和无ODD的RP患者进行。
纳入了32例RP患者和13例健康对照者的OCT扫描图像。与健康对照者相比，RP患者的黄斑RNFLt显著增加；与无ODD的RP患者相比，有ODD的RP患者的黄斑RNFLt也显著增加。
进一步的研究将探讨RNFLt增加是否通过营养不良性钙化导致ODD的发生，或者相反，ODD与RP相关的视网膜神经节细胞损伤是否通过逆行轴浆停滞导致RNFLt增加。
