A patient with hereditary Tyrosinemia Type I who is treated with nitisinone may develop corneal deposits caused by the deposition of tyrosine crystals.
Patient selection: hereditary tyrosinemia type I treated with nitisinone (which blocks the tyrosine catabolic pathway)
The corneal deposits tend to appear when the blood tyrosine concentration is elevated (often > 600 micromol/L). This usually occurs when the patient does not restrict tyrosine intake. The deposits disappear when blood tyrosine levels are reduced.
Clinical features:
(1) photophobia
(2) itchiness or discomfort of the eyes
(3) bilateral, linear branching subepithelial corneal opacities
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