Keratopathy In Tyrosinemia Type I

To report a case of type I tyrosinemia induced keratopathy and its management with corneal debridement and therapeutic contact lenses.

Hospital Universitario 12 de Octubre, Madrid, Spain

A 25-year-old female diagnosed with type I tyrosinemia, treated with nitisinone (NTBC) presented to clinic with pseudodendritic corneal lesions causing her foreign body sensation, discomfort and photophobia. She had previously been diagnosed with herpetic keratitis because of the pseudodendritic appearance of the lesions. She did not follow the dietary recommendations given for her condition, with high protein intake. Treatment with corneal debridement and therapeutic contact lenses was decided.

Corneal deposits initially disappeared, but recurrence occurred during the follow-up. Therapeutic contact lens use alone was decided with great symptomatic improvement of the patient. Corneal deposits have diminished over time and even got disappeared after long term contact lens wearing.

Keratitis appears typically in Type II tyrosinemia but not in Type I. However, in NTCB treated Type I tyrosinemia patients, as blood tyrosine levels can increase due to the therapy, similar corneal lesions can be found. Clinical presentation can be very mild to severe, and deposits can occur anytime during treatment. Lowering dose or treatment stop can resolve corneal deposits. In our experience corneal debridement can also help to reduce symptoms but do not prevent from recurrence. Therapeutic contact lenses may help with both symptoms and recurrence.