Mucciolo Dario Pasquale, Murro Vittoria, Giorgio Dario, Sodi Andrea, Passerini Ilaria, Virgili Gianni, Rizzo Stanislao
Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy.
Ophthalmic Genet. 2019 Oct;40(5):421-427. doi: 10.1080/13816810.2019.1666881. Epub 2019 Sep 21.
: To study near-infrared autofluorescence (NIR-AF) and short- wave autofluorescence (SW-AF) imaging modalities in young patients affected with choroideremia (CHM).: NIR-AF and SW-AF images, Optical coherence tomography (OCT) and color fundus images were acquired from 3 young CHM patients (6 eyes) enrolled at the Regional Reference Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence.: We studied 3 young CHM patients (6 eyes). The mean age of the patients was 17,3 years. Using NIR-AF, patient P1 was characterized by speckled hypo-autofluorescent areas at the posterior pole with a preserved central hyper-autofluorescence while patient P2 and P3 were characterized by a preserved NIR-AF signal only at the fovea. Using SW-AF, patient P1 was characterized by a normal macular autofluorescence and by a speckled FAF pattern involved the vascular arcades while patient P2 and P3 showed well-demarcated hypo-autofluorescence areas involving the posterior pole with a preserved macular autofluorescence. The differences between NIR-AF and SW-AF were more pronounced in advanced stages. In correspondence of preserved NIR-AF, the OCT examination showed regular and continuous outer retinal hyperreflective bands. We observed abnormal RPE/Bruch's membrane complex and EZ band externally to the NIR-AF signal area.: NIR-AF imaging confirms an early RPE involvement allowing us to identify and to quantify the RPE pigment loss in choroideremia. For this reason, NIR-AF imaging can be useful for monitoring the progression of the disease and to study the effect of future treatments.
研究患有脉络膜视网膜病变（CHM）的年轻患者的近红外自发荧光（NIR-AF）和短波自发荧光（SW-AF）成像模式。：从佛罗伦萨眼科诊所遗传性视网膜变性区域参考中心招募的3名年轻CHM患者（6只眼）获取了NIR-AF和SW-AF图像、光学相干断层扫描（OCT）和彩色眼底图像。：我们研究了3名年轻的CHM患者（6只眼）。患者的平均年龄为17.3岁。使用NIR-AF，患者P1的特征是后极部有斑点状低自发荧光区域，中央高自发荧光保留，而患者P2和P3的特征是仅在中央凹处保留NIR-AF信号。使用SW-AF，患者P1的特征是黄斑自发荧光正常，血管弓处有斑点状FAF模式，而患者P2和P3显示后极部有界限清晰的低自发荧光区域，黄斑自发荧光保留。NIR-AF和SW-AF之间的差异在晚期更为明显。在保留NIR-AF的对应区域，OCT检查显示视网膜外层高反射带规则且连续。我们在NIR-AF信号区域外部观察到异常的RPE/布鲁赫膜复合体和EZ带。：NIR-AF成像证实了早期RPE受累，使我们能够识别和量化脉络膜视网膜病变中RPE色素的损失。因此，NIR-AF成像可用于监测疾病进展和研究未来治疗的效果。
