The genetic, clinical, and metabolic studies of two familial cases of Richner-Hanhart syndrome (type II hypertyrosinemia are described and the findings compared with other familial cases of palmo-plantar keratoderma. The clinical pictures are identical except that in the latter there are not ocular symptoms and the tyrosine levels are not raised. One of the two patients examined was treated with a diet low in tyrosine and phenylalanine with immediate improvement in clinical symptomatology and complete disappearance of the dendritic keratitis.
Sammartino, A., de Crecchio, G., Balato, N., Lembo, G., Federico, A., Pallini, R. (1984). Familial Richner-Hanhart syndrome: genetic, clinical, and metabolic studies. ANNALS OF OPHTHALMOLOGY, 16(11), 1069-1074.
Familial Richner-Hanhart syndrome: genetic, clinical, and metabolic studies
Federico, A.;
1984-01-01
Abstract
The genetic, clinical, and metabolic studies of two familial cases of Richner-Hanhart syndrome (type II hypertyrosinemia are described and the findings compared with other familial cases of palmo-plantar keratoderma. The clinical pictures are identical except that in the latter there are not ocular symptoms and the tyrosine levels are not raised. One of the two patients examined was treated with a diet low in tyrosine and phenylalanine with immediate improvement in clinical symptomatology and complete disappearance of the dendritic keratitis.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
https://hdl.handle.net/11365/28256
Attenzione
Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo