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. 2014:17:1-6.
doi: 10.1007/8904_2014_307. Epub 2014 Jul 6.

Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report

R M K Stewart  1 , M C Briggs, J C Jarvis, J A Gallagher, L Ranganath
Affiliations

Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report

R M K Stewart et al. JIMD Rep. 2014.

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.

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Figures

Fig. 1
Fig. 1
Slit lamp examination of the eyes plus slit lamp photography showing (a) clarity of the cornea, (b) a dendritiform corneal opacity typical of tyrosine keratopathy, (c) a reduction of corneal opacity at 1 week following cessation of nitisinone and (d) no visible keratopathy at 1 year follow-up
Fig. 2
Fig. 2
(a) Itchy urticarial skin rash on nitisinone and (b) resolution of the skin rash following cessation of nitisinone
See this image and copyright information in PMC

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