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


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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  1. 1.
    Bardelli AM, Borgogni P, Farnetani MA, Fois A, Frezzotti R, Mattei R, Molinelli M, Sangentini I: Familial tyrosinemia with eye and skin lesions: presentation of two cases. Ophthalmologica 175: 5, 1977Google Scholar
  2. 2.
    Burns RP: Soluble tyrosine aminotransferase deficiency: an unusual case of corneal ulcers. Am J Ophthalmol 73: 400, 1972Google Scholar
  3. 3.
    Garibaldi LR, Siliato F, De Martini I, Scarsi MR, Romano C: Oculocutaneous tyrosinosis. Report of two cases in the same family. Helv Ped Acta 32: 173, 1977Google Scholar
  4. 4.
    Gipson IK, Burns RP, Wolfe Lande JD: Crystals in corneal epithelial lesions of tyrosine-fed rats. Invest Ophthalmol Vis Sci 14: 937, 1975Google Scholar
  5. 5.
    Goldsmith LA, Kang E, Bienfag DC, Jimbow K, Gerald P, Baden HP: Tyrosinemia with plantar and palmar keratosis and keratitis. J Pediat Ophthalmol 83: 798, 1973Google Scholar
  6. 6.
    Goldsmith LA: Tyrosinemia and related disorders. In: Stantbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th ed. Mc Graw-Hill, New York, 1983, p 287Google Scholar
  7. 7.
    Hanhart E: Neue Sonderformen von Keratosis palmo-plantaris, u.a. eine regelmässige dominante Form mit systematisierten Lipomen, ferner zwei einfach rezeccive, mit Schwachsinn und Z.Z. mit Hornhautveränderungen des Auges (Ektodermal Syndrom). Dermatologica 94: 286, 1947Google Scholar
  8. 8.
    Holston JL jr, Levy HL, Tolmin GA, Atkins RJ, Patton TH, Hosty TS: Tyrosinosis: a patient without liver or renal disease. Pediatrics 48: 393, 1971Google Scholar
  9. 9.
    Humbel R, Collart M: Oligosaccharides in the urine in the patients with glycoprotein storage disease. I: Rapid detection by thin layer chromatography. Clin Chim Acta 60: 143, 1975Google Scholar
  10. 10.
    Kennaway NG, Buist NMR: Metabolic studies in a patient with hepatic cytosol tyrosine-aminotransferase deficiency. Ped Res 5: 287, 1971Google Scholar
  11. 11.
    Pelet B, Antener I, Faggioni R, Spahr A: Tyrosinémie sans atteinte hépato-rénale par déficience en tyrosine-amino-transferase soluble. Helv Ped Acta suppl 25: 25, 1975Google Scholar
  12. 12.
    Richner H: Hornhautaffektion bei keratoma palmare et plantare hereditarium. Klin Mbl Augenheilk 100: 580, 1938Google Scholar
  13. 13.
    Sammartino A, De Crecchio G, Balato N, Lembo G, Federico A, Pallini R: Familial Richner-Hanhart syndrome/genetic, clinical and metabolic studies. Ann Ophthalmol 16: 1069, 1984Google Scholar
  14. 14.
    Sandberg HO: Bilateral keratopathy and tyrosinosis. Acta Ophthalmol 53: 760, 1975Google Scholar
  15. 15.
    Sundmacher R: Bilaterale Pseudokeratitis dentritica (Richner-Harnhart Syndrom). Klin Mbl Augenheilk 170: 84, 1977Google Scholar
  16. 16.
    Waardenburg PJ, Franceschetti A, Klein D: Genetics and ophthalmology. Van Gorcum, Amsterdam, 1967, p 515,Google Scholar
  17. 17.
    Wadman SK, Sprang FJ, van Maas JW, Ketting D: An exceptional case of tyrosinosis. J Ment Def Res 12: 269, 1968Google Scholar
  18. 18.
    Westmore R, Billson F: Pseudoherpetic keratitis: corneal changes in circumscribed palmoplantaris keratoderm. Brit J Ophthalmol 57: 654, 1973Google Scholar
  19. 19.
    Zaleski WA, Hill HA, Kushniruk W: Skin lesions in tyrosinosis response to dietary treatment. Brit J Dermatol 88: 335, 1973Google Scholar

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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