al-Hemidan A I, al-Hazzaa S A
Department of Ophthalmology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Ophthalmic Genet. 1995 Mar;16(1):21-6. doi: 10.3109/13816819509057850.
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.
里什纳-汉哈特综合征（II型酪氨酸血症）是一种常染色体隐性氨基酸代谢紊乱疾病，其特征为眼部病变、掌跖部疼痛性角化过度和智力发育迟缓。由于酪氨酸转氨酶缺乏，血清酪氨酸水平升高，导致酪氨酸晶体在角膜沉积并引发角膜炎症。患者常被误诊为单纯疱疹性角膜炎。我们报告了一名因II型酪氨酸血症继发双侧角膜炎而被诊断为单纯疱疹性角膜炎的儿童。
