RICHNER-HANHART SYNDROME (TYROSINEMIA TYPE-II) - CASE-REPORT AND LITERATURE-REVIEW

被引：25

作者：

ALHEMIDAN, AI

ALHAZZAA, SAF

机构：

[1] Department of Ophthalmology, King Faisal Specialist Hospital and Research Centre, Riyadh

来源：

OPHTHALMIC GENETICS | 1995年 / 16卷 / 01期

关键词：

AMINO ACID; KERATITIS; HYPERKERATOSIS; MENTAL RETARDATION; RICHNER-HANHART SYNDROME; TYROSINEMIA TYPE-II; REVIEW;

D O I：

10.3109/13816819509057850

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：21 / 26

页数：6

共 22 条

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