Department of Ophthalmology, Emory University, Atlanta, Georgia2Casey Eye Institute, Oregon Health & Science University, Portland.
Casey Eye Institute, Oregon Health & Science University, Portland.
JAMA Ophthalmol. 2016 Jun 1;134(6):697-702. doi: 10.1001/jamaophthalmol.2016.0874.
Novel therapies for choroideremia, an X-linked recessive chorioretinal degeneration, demand a better understanding of the primary site(s) of cellular degeneration. Optical coherence tomography angiography allows for choriocapillaris (CC) imaging. We compared the extent of structural alterations of the CC, retinal pigment epithelium, and photoreceptors with multimodal imaging.
In a clinical case series conducted from September 15, 2014, through February 5, 2015, 14 eyes of 7 male patients with choroideremia (median age, 34 years [interquartile range, 15-46 years]; age range, 13-48 years), 4 eyes of 2 women with choroideremia carrier state (both in mid-50s), and 6 eyes of 6 controls (median age, 42.5 years [interquartile range, 33-55 years]; age range, 24-55 years) underwent multimodal imaging with optical coherence tomography angiography and electroretinography. The mean (SD) macular CC density was 82.9% (13.4%) in patients with choroideremia, 93.0% (3.8%) in female carriers, and 98.2% (1.3%) in controls. The mean (SD) CC density in affected eyes was higher in regions with preserved (92.6% [5.8%]) vs absent (75.9% [12.6%]) ellipsoid zone (mean difference, 16.7%; 95% CI, 12.1% to 21.3%; P < .001). Seventeen of 18 eyes of the patients and carriers had outer retinal tubulations forming pseudopod-like extensions from islands of preserved ellipsoid zone. Outer retinal tubulations were associated with absence of underlying retinal pigment epithelium and were longer (r = -0.62; 95% CI, -0.84 to -0.19; P < .001) and more numerous (r = -0.71; 95% CI, -0.91 to -0.27; P < .001) in more severely affected eyes.
These findings suggest that regional changes in CC density correlate with photoreceptor structural alterations in choroideremia. Although closely coupled, the results suggest that retinal pigment epithelium loss is more extensive than photoreceptor loss.
对于 X 连锁隐性脉络膜视网膜变性的脉络膜视网膜色素变性，新型疗法需要更好地了解细胞变性的主要部位。光学相干断层扫描血管造影术可以对脉络膜毛细血管（CC）成像。我们通过多模态成像比较了 CC、视网膜色素上皮和光感受器的结构改变程度。
在 2014 年 9 月 15 日至 2015 年 2 月 5 日进行的临床病例系列研究中，我们纳入了 7 名男性脉络膜视网膜色素变性患者的 14 只眼（中位年龄 34 岁[四分位间距，15-46 岁]；年龄范围 13-48 岁）、2 名女性脉络膜视网膜色素变性携带者的 4 只眼（均为 50 多岁中期）和 6 名对照者的 6 只眼（中位年龄 42.5 岁[四分位间距，33-55 岁]；年龄范围 24-55 岁）进行了多模态成像，包括光学相干断层扫描血管造影和视网膜电图。脉络膜视网膜色素变性患者的黄斑 CC 密度平均值（标准差）为 82.9%（13.4%），女性携带者为 93.0%（3.8%），对照组为 98.2%（1.3%）。受影响眼的 CC 密度在具有保留（92.6%[5.8%]）和无保留（75.9%[12.6%]）椭圆带的区域中更高（平均差异，16.7%；95%置信区间，12.1%至 21.3%；P<0.001）。患者和携带者的 18 只眼中有 17 只出现了外视网膜管腔，从保留的椭圆带岛形成了伪足样延伸。外视网膜管腔与视网膜色素上皮下的缺失有关，并且在病变更严重的眼中更长（r=-0.62；95%置信区间，-0.84 至-0.19；P<0.001）和更多（r=-0.71；95%置信区间，-0.91 至-0.27；P<0.001）。
这些发现表明 CC 密度的区域性变化与脉络膜视网膜色素变性中的光感受器结构改变相关。尽管紧密相关，但结果表明视网膜色素上皮的丢失比光感受器的丢失更广泛。
