title: Corneal depositions in tyrosinaemia type I during treatment with Nitisinone.
abstract: We present a 17-year-old boy, diagnosed with tyrosinaemia type I at an age of 7 months, with new complaints of severe intermittent photophobia and burning eyes. His tyrosinaemia type I is treated with nitisinone and a protein-restricted diet. Dietary compliance is low since he entered puberty. His ocular complaints are attributable to subepithelial corneal deposits, resembling the common corneal phenotype of tyrosinaemia type II. Serum tyrosine levels were markedly elevated. Tyrosinaemia is a metabolic disease of tyrosine metabolism, subdivided into two types. Corneal deposits and photophobia are cardinal features of untreated tyrosinaemia type II, but not of type I. Novel treatment strategies (with nitisinone) for type I tyrosinaemia lead to a phenotype comparable with type II, including these corneal deposits. At follow-up visits his ocular complaints unfortunately remained unchanged, though he states his dietary compliance improved through the years.
authors.affiliation: Department of Ophthalmology, UMC Utrecht, Utrecht, The Netherlands. r.p.l.wisse@umcutrecht.nl
authors.forename: Robert P L
authors.initials: RP
authors.lastname: Wisse
authors.forename: Dienke
authors.initials: D
authors.lastname: Wittebol-Post
authors.forename: Gepke
authors.initials: G
authors.lastname: Visser
authors.forename: Allegonda
authors.initials: A
authors.lastname: van der Lelij
mesh_terms: D000293:Adolescent; D003316:Corneal Diseases / Q000209:etiology*; D003512:Cyclohexanones / Q000009:adverse effects*; D004791:Enzyme Inhibitors / Q000009:adverse effects*; D058447:Eye Pain / Q000209:etiology; D006801:Humans; D008297:Male; D009579:Nitrobenzoates / Q000009:adverse effects*; D010349:Patient Compliance; D020795:Photophobia / Q000209:etiology; D020176:Tyrosinemias / Q000150:complications* / Q000178:diet therapy / Q000188:drug therapy
chemical_list: D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; C077073:nitisinone