Keidel Leonie Franziska, Schworm Benedikt, Hohenfellner Katharina, Kruse Franziska, Priglinger Siegfried, Luft Nikolaus, Priglinger Claudia
Department of Ophthalmology, Ludwig-Maximilians-University Munich, Germany.
Pediatric Nephrology, RoMed Klinikum Rosenheim, Germany.
Klin Monbl Augenheilkd. 2023 Mar;240(3):266-275. doi: 10.1055/s-0037-1599653. Epub 2023 Mar 28.
Cystinosis is a rare lysosomal storage disease with a prevalence of 1 : 100 000 - 1 : 200 000 cases. It is caused by biallelic mutations in the CTNS gene, which encodes cystinosin, that transport cystine out of the lysosomes. Due to its dysfunction, cystine crystals accumulate in the lysosomes and ultimately cause apoptosis of the cell. Since cystinosin is ubiquitously present in the body, cystine crystals are deposited in every body structure and lead to the dysfunction of various organ systems in the course of time. Cystine crystals deposited in the cornea are a clinical hallmark of the disease, while there is less awareness of concomitant posterior segment alterations. Symmetrical pigment epithelial mottling and patches of depigmentation frequently start in the periphery and progress towards the posterior pole and can be encountered upon fundus biomicroscopy. Spectral-domain optical coherence tomography (SD-OCT) is an elegant tool for visualizing chorioretinal cystine crystals at the posterior pole. An SD-OCT-based clinical grading of the severity of the chorioretinal manifestation can potentially be applied as a biomarker for systemic disease status and for monitoring oral therapy adherence in the future. Along with previous histological examinations, it may also give information about the location of cystine crystals in the choroid and retina. This review aims to increase the awareness of vision-threatening retinal and choroidal changes in cystinosis and the concomitant findings in SD-OCT.
胱氨酸病是一种罕见的溶酶体贮积病，患病率为1：100000 - 1：200000例。它由CTNS基因突变引起，该基因编码胱氨酸转运蛋白，负责将胱氨酸转运出溶酶体。由于其功能障碍，胱氨酸晶体在溶酶体中积累，最终导致细胞凋亡。由于胱氨酸转运蛋白在体内普遍存在，随着时间的推移，胱氨酸晶体会沉积在身体的各个结构中，导致各种器官系统功能障碍。沉积在角膜中的胱氨酸晶体是该疾病的临床标志，而人们对伴随的眼后段改变了解较少。对称性色素上皮斑驳和色素脱失斑通常始于周边部，并向后极发展，在眼底生物显微镜检查时可见。频域光学相干断层扫描（SD-OCT）是一种用于观察眼后极脉络膜视网膜胱氨酸晶体的理想工具。基于SD-OCT的脉络膜视网膜表现严重程度的临床分级可能在未来用作全身疾病状态的生物标志物以及监测口服治疗依从性。与先前的组织学检查一起，它还可能提供有关胱氨酸晶体在脉络膜和视网膜中位置的信息。本综述旨在提高对胱氨酸病中威胁视力的视网膜和脉络膜变化以及SD-OCT中相关发现的认识。
