未经证实:描述原发性高草酸尿症1型(PH1)患者的眼部表现,重点研究视网膜解剖结构与视网膜功能的相关性。通过评估具有与PH1相关的不同程度的肾损害的个体来表征在不同疾病阶段发生的视网膜改变。
未经评估:一项横断面研究。
未经证实:根据临床标准和基因检测诊断为PH1的患者,在露丝儿童医院儿科肾病科接受治疗,Rambam卫生保健校园,海法,以色列在2013年至2021年之间。
UNASSIGNED:眼科评估包括前后段裂隙灯生物显微镜检查或间接检眼镜检查。视网膜电图用于评估视网膜功能,视网膜成像包括谱域OCT和眼底自发荧光。疾病阶段的系统评估基于临床标准,包括体格检查,有目的的成像(X射线,超声心动图,和美国腹部),根据需要进行实验室测试。
UNASSIGNED:PH1患者视网膜的解剖和功能评估,以及视网膜功能障碍和肾损害之间的关系。
UNASSIGNED:在8名年龄在4至19岁之间的儿童的研究中,共检查了16只眼。四只眼睛(25%)显示正常的结构和功能视网膜发现,8只眼睛(50%)在没有病理结构发现的情况下出现功能障碍,4只眼(25%)患有晚期视网膜损伤,表现为明显的形态和功能损害。肾脏疾病的严重程度与视网膜表型的严重程度之间没有直接关系。
未经证实:患有PH1的受试者呈现不同程度的视网膜表型,临床视网膜形态和视网膜电描记术上发现的视网膜功能之间可能存在差异。这些发现提出了关于PH1中视网膜表现的分子基础的问题。在视网膜中没有明显的晶体沉积的情况下存在功能损害表明,除了草酸盐晶体的积累,其他生物分子过程可能在视网膜病变的发展中起作用。
UNASSIGNED: To describe ocular findings in individuals with primary hyperoxaluria type 1 (PH1), focusing on the correlations between retinal anatomy and retinal function. To characterize the retinal alterations that occur at different disease stages by evaluating individuals with diverse degrees of renal impairment associated with PH1.
UNASSIGNED: A cross-sectional study.
UNASSIGNED: Patients diagnosed with PH1 based on clinical criteria and genetic testing, treated in the Pediatric Nephrology Unit of the Ruth Children\'s Hospital, Rambam Health Care Campus, Haifa, Israel between 2013 and 2021.
UNASSIGNED: The ophthalmological assessment included a slit-lamp biomicroscopy of the anterior and posterior segment or indirect ophthalmoscopy. Electroretinography was employed for assessment of the retinal function, and retinal imaging included spectral-domain OCT and fundus autofluorescence. A systematic evaluation of the disease stage was based on clinical criteria including physical examination, purposeful imaging (X-ray, echocardiography, and US abdomen), and laboratory tests as needed.
UNASSIGNED: Anatomical and functional assessment of the retina in patients with PH1, and the relationship between retinal dysfunction and kidney impairment.
UNASSIGNED: A total of 16 eyes were examined in the study of 8 children ranging in age from 4 to 19 years. Four eyes (25%) showed normal structural and functional retinal findings, 8 eyes (50%) presented functional impairment in the absence of pathological structural findings, and 4 eyes (25%) had advanced retinal damage that manifested as significant morphological and functional impairment. There was no direct relationship between the severity of the renal disease and the severity of the retinal phenotype.
UNASSIGNED: Subjects with PH1 present varying severity levels of the retinal phenotype, with possible discrepancy between the clinical retinal morphology and the retinal function noted on electroretinography. These findings raise questions about the molecular basis of the retinal manifestations in PH1. The presence of functional impairment in the absence of evident crystal deposition in the retina suggests that, in addition to oxalate crystal accumulation, other biomolecular processes may play a role in the development of retinopathy.