title: 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.
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.
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D003228:Conjunctiva / Q000098:blood supply / Q000648:ultrastructure*; D003315:Cornea / Q000648:ultrastructure*; D006801:Humans; D007635:Keratitis, Dendritic / Q000150:complications / Q000178:diet therapy; D010375:Pedigree; D014443:Tyrosine / Q000097:blood*
chemical_list: D014443:Tyrosine