Pinhas Alexander, Zhou Davis B, Otero-Marquez Oscar, Castanos Toral Maria V, Migacz Justin V, Glassberg Jeffrey, Rosen Richard B, Chui Toco Y P
Department of Ophthalmology, New York Eye and Ear Infirmary of Mount Sinai, New York, NY, USA.
Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Case Rep Hematol. 2022 Aug 22;2022:6079631. doi: 10.1155/2022/6079631. eCollection 2022.
Sickle cell disease (SCD) exists on a phenotypic spectrum with variable genetic expressivity, making it difficult to assess an individual patient's risk of complications at any particular point in time. Current and emerging SCD treatments, including CRISPR-based gene editing, result in a variable proportion of affected red blood cells (RBCs) still vulnerable to sickling. Clinical serological indicators of disease such as hemoglobin, indirect bilirubin, and reticulocyte count and clinical metrics including number of emergency department visits and hospitalizations over time often fall short in their ability to objectively quantify ischemic disease activity and efficacy of treatments. Clearly, better clinical biomarkers are needed. The rapidly developing field of oculomics leverages the transparent nature of the ocular tissue to directly study the retinal microvasculature in order to characterize the status of systemic diseases. In this case report, we demonstrate the ability of optical coherence tomography angiography (OCT-A) to detect and measure micro-occlusive events within the retinal capillary bed before and after RBC exchange transfusion and following CRISPR-based gene editing, as an indicator of systemic ischemic disease activity and measure of treatment efficacy. The implications of these findings are discussed.
镰状细胞病（SCD）存在于一个具有可变基因表达的表型谱中，这使得在任何特定时间点评估个体患者发生并发症的风险变得困难。当前和新兴的SCD治疗方法，包括基于CRISPR的基因编辑，会导致可变比例的受影响红细胞（RBC）仍然容易发生镰变。疾病的临床血清学指标，如血红蛋白、间接胆红素和网织红细胞计数，以及临床指标，包括随着时间推移的急诊科就诊次数和住院次数，在客观量化缺血性疾病活动和治疗效果方面往往能力不足。显然，需要更好的临床生物标志物。快速发展的眼科学领域利用眼组织的透明特性直接研究视网膜微血管系统，以表征全身性疾病的状态。在本病例报告中，我们展示了光学相干断层扫描血管造影（OCT-A）在红细胞置换输血前后以及基于CRISPR的基因编辑后检测和测量视网膜毛细血管床内微闭塞事件的能力，作为全身性缺血性疾病活动的指标和治疗效果的衡量标准。我们讨论了这些发现的意义。
