Abstract
We describe a patient with ultra-rare disease, alkaptonuria, who developed tyrosine keratopathy following nitisinone therapy of 2 mg on alternate days. His vision became impaired approximately 7 weeks following the commencement of nitisinone and ophthalmological examination at week nine showed characteristic dendritic keratopathy associated with tyrosinaemia. The corneal lesion as well as his visual symptoms normalized completely following discontinuation of nitisinone. This is the first documented report of keratopathy due to acquired tyrosinaemia due to very low-dose nitisinone.
Competing interests: None declared
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Communicated by: Pascale de Lonlay
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Compliance with Ethics Guidelines
This manuscript has not been published elsewhere.
All co-authors are aware and have agreed to this submission.
Stewart RMK, Briggs MC, Jarvis JC, Gallagher JA and Ranganath L declare that there are no conflicts of interest in submission of the paper.
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. In addition, the institutional review body (Royal Liverpool University Hospital) explicitly approved the National Alkaptonuria Service from which this data was generated.
Informed consent was obtained from all patients for being included in the study. This is being published as a clinical practice article and standard research ethics process is not therefore appropriate. The data from this patient have been completely anonymised to ensure he is not recognized from the publication of this manuscript. The data obtained were following standard clinical assessments upon referral to the National Alkaptonuria Service in Liverpool. Patients are informed verbally and through being handwritten materials about the activities of the National AKU Service. They are explicitly informed in the Patient information booklet of the National AKU Service that:
We could publish results from the study but if we do, we will make sure you cannot be identified in any way. All data used for publicity or for other research purposes will ensure total anonymity. Please let us know when you are visiting Ward 9 B (where the National AKU Service is located) that you understand this and have no objection to it.
All the ocular photos were acquired during the standard assessments during the patient visit.
The skin rash photos were acquired following specific consent obtained by the medical photography department employing standard hospital guidance.
Contribution from Authors
LR Ranganath: Carried out patient assessments
MC Briggs and RMK Stewart: Performed all the ophthalmology examinations
JC Jarvis and JA Gallagher: Intellectual input and support, editing the manuscript
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Stewart, R.M.K., Briggs, M.C., Jarvis, J.C., Gallagher, J.A., Ranganath, L. (2014). Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 17. JIMD Reports, vol 17. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_307
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DOI: https://doi.org/10.1007/8904_2014_307
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