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Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis
Affiliations- Department of General Ophthalmology and Paediatric Ophthalmology Service, Medical University of Lublin, Lublin, Poland
- Faculty of Medicine, Collegium Medicum Cardinal Stefan Wyszynski University, Warsaw, Poland
- Department of Paediatric Nephrology, Medical University of Lublin, Lublin, Poland
open access
Abstract
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.
Abstract
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.
Keywords
cystinosis; infantile nephropathic cystinosis; ocular cystinosis
About this articleTitle
Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis
Journal
Issue
Vol 6 (2021): Continuous Publishing
Article type
Review paper
Pages
206-214
Published online
2021-11-26
Page views
6003
Article views/downloads
568
DOI
Bibliographic record
Ophthalmol J 2021;6:206-214.
Keywords
cystinosis
infantile nephropathic cystinosis
ocular cystinosis
Authors
Małgorzata Kowalczyk
Mario Damiano Toro
Robert Rejdak
Przemyslaw Sikora
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