常染色体隐性遗传视网膜色素变性相关纤毛病与非纤毛病的结构进展比较。
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.
机构信息
Department of Ophthalmology, Columbia University, New York, NY, USA.
Jonas Children's Vision Care, and the Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Columbia University, New York, NY, USA.
出版信息
Orphanet J Rare Dis. 2019 Aug 1;14(1):187. doi: 10.1186/s13023-019-1163-9.
BACKGROUND
To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the progressive shortening of the ellipsoid zone line width obtained by spectral-domain optical coherence tomography (SD-OCT).
RESULTS
For the ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 259 μm per year and the ring area decreased at a rate of 2.46 mm per year. For the non-ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 84 μm per year and the ring area decreased at a rate of 0.7 mm per year.
CONCLUSIONS
Our study was able to quantify and compare the loss of EZ line width and short-wavelength autofluorescence (SW-AF) ring constriction progression over time for ciliopathy and non-ciliopathy arRP genes. These results may serve as a basis for modeling RP disease progression, and furthermore, they could potentially be used as endpoints in clinical trials seeking to promote cone and rod survival in RP patients.
背景
通过测量眼底自发荧光（FAF）图像中高自发荧光环的收缩和光谱域光相干断层扫描（SD-OCT）获得的椭圆体带线宽度的渐进性缩短，来评估和比较纤毛病和非纤毛病常染色体隐性视网膜色素变性（arRP）患者的病情进展。
结果
对于纤毛病组，椭圆体带线的估计平均缩短率为每年 259μm，环区每年缩小 2.46mm。对于非纤毛病组，椭圆体带线的估计平均缩短率为每年 84μm，环区每年缩小 0.7mm。
结论
我们的研究能够量化和比较纤毛病和非纤毛病 arRP 基因突变患者的 EZ 线宽度损失和短波长自发荧光（SW-AF）环收缩进展随时间的变化。这些结果可以作为 RP 疾病进展模型的基础，此外，它们还有可能成为临床试验的终点，以促进 RP 患者的视锥细胞和视杆细胞的存活。
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