Case Report: PDF OnlyCorneal Lesion as the Initial Manifestation of Tyrosinemia Type IITsai, Chun-Pina, c; Lin, Pei-Yua, c, *; Lee, Ni-Chungb; Niu, Dau-Mingb, c; Lee, Shui-Meia, c; Hsu, Wen-Minga, c Author Information aDepartment of Ophthalmology, Taiwan, R.O.C. bDepartment of Pediatrics, Taipei Veterans General Hospital, Taiwan, R.O.C. cNational Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C. *Correspondence to: Dr. Pei-Yu Lin, Department of Ophthalmology, Taipei Veterans General Hospital, 201, Section 2, Shih-Pai Road, Taipei 112, Taiwan, R.O.C. E-mail: [email protected] Received: October 5, 2005; • Accepted: February 6, 2006. Journal of the Chinese Medical Association: June 2006 - Volume 69 - Issue 6 - p 286-288 doi: 10.1016/S1726-4901(09)70259-X Metrics Abstract Tyrosinemia type II (Richner-Hanhart syndrome) is a rare autosomal recessive disease with deficiency of tyrosine aminotransferase and subsequently increasing level of serum tyrosine. We report the case of a 2-year-old girl who was referred due to bilateral corneal lesions. Slit-lamp examination showed small granular white deposits arranged in a dendritic pattern in the superficial central cornea of both eyes. Physical examination revealed painful, non-pruritic, hyperkeratotic plaques on the soles, palms and fingertips. Mental evaluation demonstrated developmental delay for her age. Blood examination revealed serum tyrosine level to be 1,868 μM (normal range, 30-110 μM), which decreased to 838 μM with 2-month diet on tyrosine and phenylalanine restriction. The corneal and skin lesions resolved completely. However, the corneal deposits recurred a month later as her mother failed to strictly control the diet because the little girl was losing weight and activity. With specific formula and adjusted diet regimen, the corneal lesions decreased again. Corneal pseudodendritic deposits may be the initial manifestation in patients with tyrosinemia type II. Early diagnosis and intervention with diet control are crucial for preventing permanent visual and developmental deficits. Corneal deposits can be one of the parameters in monitoring the efficacy of diet control. © 2006 by Lippincott Williams & Wilkins, Inc.