Journal of the Chinese Medical Association
Volume 69, Issue 6 , Pages 286-288 , June 2006

Corneal Lesion as the Initial Manifestation of Tyrosinemia Type II

  • Chun-Pin Tsai

      Affiliations

    • Department of Ophthalmology, Taiwan, R.O.C.
    • National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Pei-Yu Lin

      Affiliations

    • Department of Ophthalmology, Taiwan, R.O.C.
    • National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • Corresponding Author InformationCorrespondence to: Dr. Pei-Yu Lin, Department of Ophthalmology, Taipei Veterans General Hospital, 201, Section 2, Shih-Pai Road, Taipei 112, Taiwan, R.O.C.
    • ,
  • Ni-Chung Lee

      Affiliations

    • Department of Pediatrics, Taipei Veterans General Hospital, Taiwan, R.O.C.
    • ,
  • Dau-Ming Niu

      Affiliations

    • Department of Pediatrics, Taipei Veterans General Hospital, Taiwan, R.O.C.
    • National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Shui-Mei Lee

      Affiliations

    • Department of Ophthalmology, Taiwan, R.O.C.
    • National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Wen-Ming Hsu

      Affiliations

    • Department of Ophthalmology, Taiwan, R.O.C.
    • National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.

Received 5 October 2005 ,Accepted 6 February 2006.

References 

  1. Richner H . Hornhautaffektion bei keratoma palmare et plantare hereditarium . Klin Mbl Augenheilk . 1938;100:580–588
  2. Hanhart E . Neue sonderformen von keratosis palmo-plantaris, u.a. eine regelmässig-dominante mit systematisierten lipomen, ferner 2 einfach-rezessive mit schwachsinn und z.T. mit hornhautveränderungen des auges (ektodermalsyndrom) . Dermatologica . 1947;94:286–308
  3. Natt E, Westphal EM, Toth-Fejel SE, Magenis RE, Buist NR, Rettenmeier R, et al. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II . Hum Genet . 1987;77:352–358
  4. Buist NR , Kennaway NG , Fellman JH . Tyrosinaemia type II . In:  Bickel H ,  Wachtel V editor. Inherited Diseases of Aminoacid Metabolism . Stuttgart: Georg Thieme Verlag; 1995;p. 203–235
  5. Macsai MS , Schwartz TL , Hinkle D , Hummel MB , Mulhern MG , Rootman D . Tyrosinemia type II: nine cases of ocular signs and symptoms . Am J Ophthalmol . 2001;132:522–527
  6. Ripple RE , Lohr KM , Twining SS , Hyndiuk RA , Caya JG . Role of leukocytes in ocular inflammation of tyrosinemia II . Invest Ophthalmol Vis Sci . 1986;27:926–931
  7. Paige DG , Clayton P , Bowron A , Harper JI . Richner-Hanhart syndrome (oculocutaneous tyrosinemia, type II) . J R Soc Med . 1992;85:759–760
  8. Rabinowitz L , Williams L , Anderson C , Mazur A , Kaplan P . Painful keratoderma and photophobia: hallmarks of tyrosinemia type II . J Pediatr . 1995;126:266–269
  9. Bardelli AM, Borgogni P, Farnetani MA, Fois A, Frezzotti R, Mattei R, et al  Familial tyrosinemia with eye and skin lesions. Presentation of two cases . Ophthalmologica . 1977;175:5–9
  10. Sayar RB , Von Domarus D , Schafer HJ , Beckenkamp G . Clinical picture and problems of keratoplasty in Richner-Hanhart syndrome (tyrosinemia type II) . Ophthalmologica . 1988;197:1–6

PII: S1726-4901(09)70259-X

doi: 10.1016/S1726-4901(09)70259-X

Journal of the Chinese Medical Association
Volume 69, Issue 6 , Pages 286-288 , June 2006

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