Sammartino A, de Crecchio G, Balato N, Lembo G, Federico A, Pallini R
Ann Ophthalmol. 1984 Nov;16(11):1069-74.
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.
本文描述了两例Richner-Hanhart综合征（II型高酪氨酸血症）家族病例的遗传学、临床和代谢研究，并将研究结果与其他掌跖角化病家族病例进行了比较。除了后者没有眼部症状且酪氨酸水平没有升高外，两者的临床症状相同。所检查的两名患者中的一名接受了低酪氨酸和苯丙氨酸饮食治疗，临床症状立即改善，树枝状角膜炎完全消失。
