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International Ophthalmology

, Volume 10, Issue 4, pp 203–212 | Cite as

The effect of diet on the ophthalmological, clinical and biochemical aspects of Richner-Hanhart syndrome: A morphological ultrastructural study of the cornea and the conjunctiva

  • A. Sammartino
  • R. Cerbella
  • A. Cecio
  • G. De Crecchio
  • A. Federico
  • A. Fronterre
Article

Abstract

Type II tyrosinemia (Richner-Hanhart syndrome) is a familial aminoacid disorder, clinically characterized by ocular changes (keratitis), palmo-plantar hyperkeratosis, no constant mental changes with mental deterioration, abnormal urinary excretion and high serum tyrosine level in consequence of the absence of tyrosine-aminotransferase. Almost 20 families have been described in the literature of which 50% are of Italian origin, suggesting that this disorder is particularly frequent in our country.

We report a family with 2 affected members with typical clinical and biochemical findings (keratitis, palmo-plantar hyperkeratosis, abnormal urinary and serum tyrosine concentrations), not suffering from mental retardation. Clinical symptoms completely disappeared after the decrease of urinary and serum tyrosine levels following a tyrosine- and phenylalanine-free diet. These cases are compared with those reported in literature, and the usefulness of diet for the improvement of clinical and metabolic symptoms is discussed.

Key words

keratitis tyrosinemia II familial aminoacid disorder palmo-plantar hyperkeratosis abnormal urinary tyrosine excretion 

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Copyright information

© Martinus Nijhoff/Dr W. Junk Publishers 1987

Authors and Affiliations

  • A. Sammartino
    • 1
  • R. Cerbella
    • 1
  • A. Cecio
    • 2
  • G. De Crecchio
    • 1
  • A. Federico
    • 3
  • A. Fronterre
    • 4
  1. 1.Eye Clinic, School of Medicine, University of NaplesNaplesItaly
  2. 2.Department of Anatomy Topography, Faculty of VeterinaryUniversity of NaplesNaplesItaly
  3. 3.Neurologic Clinic, School of Medicine, University of SienaSienaItaly
  4. 4.Eye Clinic, University of PaviaPaviaItaly

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