title: Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.
abstract: Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. Serum tyrosine increases due to tyrosine aminotransferase deficiency resulting in the deposition of tyrosine crystals in the cornea and in corneal inflammation. Patients are often misdiagnosed as having herpes simplex keratitis. We report on a child who presented with bilateral keratitis secondary to Tyrosinemia Type II diagnosed as herpes simplex keratitis.
authors.affiliation: Department of Ophthalmology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: A I
authors.initials: AI
authors.lastname: al-Hemidan
authors.forename: S A
authors.initials: SA
authors.lastname: al-Hazzaa
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood; D002648:Child; D003241:Consanguinity; D003315:Cornea / Q000473:pathology; D003318:Corneal Opacity / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D007634:Keratitis / Q000175:diagnosis; D016849:Keratitis, Herpetic / Q000175:diagnosis; D007645:Keratoderma, Palmoplantar; D008099:Liver / Q000201:enzymology*; D013577:Syndrome; D014443:Tyrosine / Q000097:blood; D014444:Tyrosine Transaminase / Q000172:deficiency*; D014792:Visual Acuity
chemical_list: D014443:Tyrosine; D014444:Tyrosine Transaminase