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: A I al-Hemidan, S A al-Hazzaa
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 16 Issue 1 Pg. 21-6 (Mar 1995) ISSN: 1381-6810 [Print] England
• PMID: 7648039 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Tyrosine
• Tyrosine Transaminase

Topics

• Amino Acid Metabolism, Inborn Errors (blood)
• Child
• Consanguinity
• Cornea (pathology)
• Corneal Opacity (pathology)
• Diagnosis, Differential
• Female
• Humans
• Intellectual Disability
• Keratitis (diagnosis)
• Keratitis, Herpetic (diagnosis)
• Keratoderma, Palmoplantar
• Liver (enzymology)
• Syndrome
• Tyrosine (blood)
• Tyrosine Transaminase (deficiency)
• Visual Acuity