Liang Hong, Baudouin Christophe, Dupas Bénédicte, Delcroix Thibault, Giordano Vincenzo
Hôpital National de La Vision des 15-20, INSERM-DGOS CIC 1423, IHU FOReSIGHT, 75012 Paris, France.
Institut National de La Santé et de La Recherche Médicale INSERM UMRS 968, CNRS, UMR 7210, Institut de La Vision, IHU ForeSight, Sorbonne Université UM80, 75012 Paris, France.
Int J Mol Sci. 2025 Aug 25;26(17):8237. doi: 10.3390/ijms26178237.
Cystinosis is a rare lysosomal storage disease characterised by cystine crystal formation within cells. In the eyes, crystals accumulate in the cornea causing photophobia, loss of visual acuity, and corneal complications. Strict adherence to topical cysteamine treatment is the only therapy that reduces corneal crystal accumulation. Cystinosis, a crystallopathy, is also a disease of inflammation. As the disease progresses the inflammatory processes have a greater impact on the ocular manifestations. The age at which inflammation becomes increasingly significant is dependent on the adequacy of early patient management and adherence with therapy. As patients are living longer with cystinosis, optimising ocular management is increasingly important. No clinical guidelines addressing the long-term ocular management of cystinosis exist. Similarly, there is little recognition in the literature of how to address the inflammatory component of the disease. This paper presents management guidelines, linked to the 3C Classification of severity, used at our centre that provides a framework for optimising care. Adoption of these can help preserve the sight of cystinosis patients. The paper also hypothesises the molecular pathway leading to corneal inflammation.
胱氨酸贮积症是一种罕见的溶酶体贮积病，其特征是细胞内形成胱氨酸晶体。在眼部，晶体在角膜中积聚，导致畏光、视力丧失和角膜并发症。严格坚持局部使用半胱胺治疗是减少角膜晶体积聚的唯一疗法。胱氨酸贮积症作为一种晶体病，也是一种炎症性疾病。随着疾病进展，炎症过程对眼部表现的影响更大。炎症变得日益显著的年龄取决于早期患者管理的充分程度和对治疗的依从性。由于患有胱氨酸贮积症的患者寿命延长，优化眼部管理变得越来越重要。目前尚无针对胱氨酸贮积症长期眼部管理的临床指南。同样，文献中对于如何处理该疾病的炎症成分也鲜有认识。本文介绍了与我们中心使用的3C严重程度分类相关的管理指南，该指南为优化护理提供了一个框架。采用这些指南有助于保护胱氨酸贮积症患者的视力。本文还对导致角膜炎症的分子途径提出了假设。
