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From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis
by
Hong Liang
Hong Liang
,
Christophe Baudouin
Christophe Baudouin
Bénédicte Dupas
Bénédicte Dupas
Thibault Delcroix
Thibault Delcroix
Vincenzo Giordano
Vincenzo Giordano
1
Hôpital National de La Vision des 15-20, INSERM-DGOS CIC 1423, IHU FOReSIGHT, 75012 Paris, France
2
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
3
Recordati Rare Diseases, 70, Avenue du Général de Gaulle-92800 Puteaux, 75012 Paris, France
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2025, 26(17), 8237; https://doi.org/10.3390/ijms26178237 (registering DOI)
Submission received: 30 June 2025
/
Revised: 19 August 2025
/
Accepted: 21 August 2025
/
Published: 25 August 2025
Abstract
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.
Share and Cite
MDPI and ACS Style
Liang, H.; Baudouin, C.; Dupas, B.; Delcroix, T.; Giordano, V.
From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis. Int. J. Mol. Sci. 2025, 26, 8237.
https://doi.org/10.3390/ijms26178237
AMA Style
Liang H, Baudouin C, Dupas B, Delcroix T, Giordano V.
From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis. International Journal of Molecular Sciences. 2025; 26(17):8237.
https://doi.org/10.3390/ijms26178237
Chicago/Turabian Style
Liang, Hong, Christophe Baudouin, Bénédicte Dupas, Thibault Delcroix, and Vincenzo Giordano.
2025. "From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis" International Journal of Molecular Sciences 26, no. 17: 8237.
https://doi.org/10.3390/ijms26178237
APA Style
Liang, H., Baudouin, C., Dupas, B., Delcroix, T., & Giordano, V.
(2025). From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis. International Journal of Molecular Sciences, 26(17), 8237.
https://doi.org/10.3390/ijms26178237
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