Vol 6 (2021): Continuous Publishing
Review paper
Published online: 2021-11-26

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Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis

Małgorzata Kowalczyk1, Mario Damiano Toro12, Robert Rejdak1, Przemyslaw Sikora3
Ophthalmol J 2021;6:206-214.


Cystinosis, as a rare disease, faces many difficulties with regard to appropriate early diagnostics and treatment. The aim of our study is to present current methods of diagnostics and treatment of ocular complications in an infantile nephropathic type of cystinosis. It is the most severe type, causing many ocular and life-threatening systemic complications. Ocular severe complications are usually due to the presence of an infantile nephropathic form of cystinosis, long-term illness, delayed diagnosis, non-compliance, or inappropriate treatment. Slit-lamp biomicroscopy is a major examination detecting corneal cystine crystals and the main tool in cystinosis diagnostics. Anterior segment optical coherence tomography (AS-OCT) and in vivo confocal microscopy (IVCM) are other helpful devices in monitoring the accumulation of crystals in the cornea.

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