National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
National Institute of Allergy and Infectious Disease, Research Technologies Branch, National Institutes of Health, Bethesda, MD, USA.
Commun Biol. 2022 Sep 13;5(1):893. doi: 10.1038/s42003-022-03842-7.
Choroideremia is an X-linked, blinding retinal degeneration with progressive loss of photoreceptors, retinal pigment epithelial (RPE) cells, and choriocapillaris. To study the extent to which these layers are disrupted in affected males and female carriers, we performed multimodal adaptive optics imaging to better visualize the in vivo pathogenesis of choroideremia in the living human eye. We demonstrate the presence of subclinical, widespread enlarged RPE cells present in all subjects imaged. In the fovea, the last area to be affected in choroideremia, we found greater disruption to the RPE than to either the photoreceptor or choriocapillaris layers. The unexpected finding of patches of photoreceptors that were fluorescently-labeled, but structurally and functionally normal, suggests that the RPE blood barrier function may be altered in choroideremia. Finally, we introduce a strategy for detecting enlarged cells using conventional ophthalmic imaging instrumentation. These findings establish that there is subclinical polymegathism of RPE cells in choroideremia.
脉络膜视网膜变性是一种 X 连锁的致盲性视网膜退行性疾病，其特征是感光细胞、视网膜色素上皮 (RPE) 细胞和脉络膜毛细血管逐渐丧失。为了研究受影响的男性和女性携带者中这些层受到破坏的程度，我们进行了多模态自适应光学成像，以更好地观察活体人眼中脉络膜视网膜变性的发病机制。我们证明了所有被成像的受试者中都存在亚临床的、广泛的 RPE 细胞增大。在脉络膜视网膜变性中最后受影响的黄斑区，我们发现 RPE 的破坏比感光细胞或脉络膜毛细血管层更为严重。出人意料的是，我们发现了一些荧光标记但结构和功能正常的感光细胞斑块，这表明 RPE 的血屏障功能可能在脉络膜视网膜变性中发生改变。最后，我们提出了一种使用常规眼科成像仪器检测增大细胞的策略。这些发现表明，脉络膜视网膜变性中存在亚临床的 RPE 细胞多形性。
