Familial Richner-Hanhart syndrome: genetic, clinical, and metabolic studies.
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.
D000293:Adolescent; D000328:Adult; D002648:Child; D003318:Corneal Opacity / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007635:Keratitis, Dendritic / Q000150:complications; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine