Mrugacz Małgorzata, Szumiński Michał, Sredzińska-Kita Dorota, Bakunowicz-Łazarczyk Alina
Klinika Okulistyki Dzieciecej z Ośrodkiem Leczenia Zeza, Uniwersyteckiego Szpitala Klinicznego w Białymstoku.
Klin Oczna. 2010;112(10-12):324-7.
Retinitis pigmentosa (RP) is a set of heterogenous retinal diseases that affect primarily photoreceptors and retinal pigmented epithelium. The Usher's syndrome (RP associated with hearing impairment or loss), is responsible for about 10-20% of all cases. We investigate macular morphology using spectral domain optical coherence tomography in correlation with visual function.
Two patients with Usher syndrome: a 13 years old girl and her 9 years old sister underwent comprehensive ophthalmological examination including: BCVA testing (Snellen charts), biomicroscopy of the anterior and posterior segment of the eye, electroretinography and SD-OCT scans of the macular region.
BCVA was noticeable decreased in both eyes (Vod = 5/16, Vos = 5/16), of 13 years old patient, while it was slightly diminished in her younger sister (Vod = 5/6, Vos = 5/6). In patient with visual deterioration a blue cone deficiency was found. Central foveal thickness (CFT) and foveal outer segment/pigment epithelium thickness (FOSPET) was significantly reduced in 13 years old patient.
Spectral optical coherence tomography is a useful method to monitor morphological changes of the macula and their progress in patients with retinitis pigmentosa in Usher's syndrome.
视网膜色素变性（RP）是一组主要影响光感受器和视网膜色素上皮的异质性视网膜疾病。其中，Usher综合征（与听力减退或丧失相关的RP）约占所有病例的10%-20%。我们利用光谱域光学相干断层扫描技术研究黄斑形态与视觉功能的相关性。
两名患有Usher综合征的患者，一名13岁女孩及其9岁妹妹接受了全面的眼科检查，包括：最佳矫正视力（BCVA）测试（Snellen视力表）、眼前节和后节生物显微镜检查、视网膜电图以及黄斑区的光谱域光学相干断层扫描（SD-OCT）。
13岁患者双眼的BCVA显著下降（右眼=5/16，左眼=5/16），而其妹妹的视力略有下降（右眼=5/6，左眼=5/6）。在视力恶化的患者中发现了蓝锥细胞缺陷。13岁患者的中心凹厚度（CFT）和黄斑中心凹外段/色素上皮厚度（FOSPET）显著降低。
光谱光学相干断层扫描是监测Usher综合征视网膜色素变性患者黄斑形态变化及其进展的有用方法。
