Richner-Hanhart syndrome (Tyrosinemia Type II) Case report and literature review
| Autor: | Selwa A. F. Al-hazzaa, Amal I. Al-hemidan |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Pathology
medicine.medical_specialty Hyperkeratosis Visual Acuity Corneal inflammation Keratitis Cornea Diagnosis Differential Consanguinity Corneal Opacity Keratoderma Palmoplantar Intellectual Disability medicine Humans Tyrosine Child Amino Acid Metabolism Inborn Errors Genetics (clinical) Tyrosine Transaminase Tyrosinemia type II Tyrosine crystals business.industry Syndrome Hanhart syndrome medicine.disease eye diseases Ophthalmology medicine.anatomical_structure Liver Pediatrics Perinatology and Child Health Keratitis Herpetic Female sense organs business |
| Zdroj: | Ophthalmic Genetics. 16:21-26 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.3109/13816819509057850 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|