Department of Ophthalmology, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
Department of Pediatric Nephrology, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
Ophthalmic Genet. 2024 Aug;45(4):372-377. doi: 10.1080/13816810.2024.2337882. Epub 2024 Apr 15.
To evaluate the corneal endothelial cell morphology in children with autosomal recessive Alport syndrome (ARAS).
This is a longitudinal, prospective cohort study that evaluated pediatric patients with genetically diagnosed ARAS. Fifty-eight eyes of 29 pediatric patients (12 patients, 17 controls) underwent a full ophthalmic examination. Corneal endothelial cell density (ECD) (cells/mm²), coefficient variation (CV) of cell area (polymegathism), the percentage of hexagonal cells (HEX) (pleomorphism), and central corneal thickness (CCT) were analyzed automatically using a noncontact specular microscopy.
The mean ECD was 2904 ± 355.48 cell/mm² in the ARAS group and 3263.20 ± 261.71 cell/mm² in the control group ( = 0.004). In the ARAS group, the mean CV was 46.53 ± 10.43, which was significantly higher than that in controls ( = 0.026). The mean HEX was 48.86 ± 14.71 in the ARAS group and 59.06 ± 10.64 in the control group ( = 0.038). The mean CCT was 565.26 ± 39.77 µm in the ARAS group and 579.66 ± 31.65 µm in the control group ( = 0.282). The comparison of endothelial cell characteristic of the ARAS group with 1-year follow-up is as follows: The mean ECD decreased from 2904 ± 355.48 cell/mm² to 2735 ± 241.58 cell/mm² ( = 0.003). The mean CV increased from 46.53 ± 10.43 to 47.93 ± 10.50 ( = 0.471). The mean HEX decreased from 48.86 ± 14.71 to 48.50 ± 10.06 ( = 0.916). The mean CCT decreased from 565.26 ± 39.77 µm to 542.86 ± 40.39 µm ( = 0.000).
Measurement of ECD and percentage of hexagonality can also be used as an indicator of the health of the corneal endothelium. In this study, the mean ECD and HEX were significantly lower in ARAS group than in age-matched pediatric controls. Polymegathism, which reflects cellular stress, was statistically significantly higher in ARAS group. The mean ECD and CCT decreased significantly at 1-year follow-up. This study may demostrated that endothelial damages and stress in ARAS patients appear in childhood and show a rapid increase with age.
评估常染色体隐性遗传性 Alport 综合征（ARAS）患儿的角膜内皮细胞形态。
这是一项纵向、前瞻性队列研究，评估了经基因诊断为 ARAS 的儿科患者。29 名儿科患者（12 名患者，17 名对照）的 58 只眼接受了全面眼科检查。使用非接触式共焦显微镜自动分析角膜内皮细胞密度（ECD）（细胞/mm²）、细胞面积变异系数（CV）（多形性）、六边形细胞百分比（HEX）（多形性）和中央角膜厚度（CCT）。
ARAS 组的平均 ECD 为 2904±355.48 个细胞/mm²，对照组为 3263.20±261.71 个细胞/mm²（ = 0.004）。ARAS 组的平均 CV 为 46.53±10.43，明显高于对照组（ = 0.026）。ARAS 组的平均 HEX 为 48.86±14.71，对照组为 59.06±10.64（ = 0.038）。ARAS 组的平均 CCT 为 565.26±39.77 µm，对照组为 579.66±31.65 µm（ = 0.282）。ARAS 组与 1 年随访的内皮细胞特征比较如下：平均 ECD 从 2904±355.48 个细胞/mm²降至 2735±241.58 个细胞/mm²（ = 0.003）。平均 CV 从 46.53±10.43 增至 47.93±10.50（ = 0.471）。平均 HEX 从 48.86±14.71 降至 48.50±10.06（ = 0.916）。平均 CCT 从 565.26±39.77 µm 降至 542.86±40.39 µm（ = 0.000）。
ECD 和六边形百分比的测量也可用作角膜内皮健康的指标。在这项研究中，ARAS 组的平均 ECD 和 HEX 明显低于年龄匹配的儿科对照组。反映细胞应激的多形性在 ARAS 组中统计学上显著升高。在 1 年随访时，平均 ECD 和 CCT 显著下降。本研究表明，ARAS 患者的内皮损伤和应激在儿童期出现，并随年龄增长迅速增加。
