[Tyrosinosis with hepatolenticular degeneration (Wilson's disease)].
A 23-year old man had suffered since the age of one year from recurring pain and reddening of one or both eyes. Additionally, striated compaction in the corneal epithelium and at the level of Bowman's membrane was observed while he was still a child. A corneal lattice dystrophy was therefore suspected, even though there was hereditary reason for it. The disease was subsequently identified clinically and serologically as Richner-Hanhart syndrome, accompanied in this patient by hepatolenticular degeneration (Wilson's disease) with a Kayser-Fleischer corneal ring.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D003316:Corneal Diseases / Q000209:etiology*; D006527:Hepatolenticular Degeneration / Q000150:complications*; D006801:Humans; D008297:Male; D014443:Tyrosine / Q000378:metabolism*
D014443:Tyrosine
Tyrosinosis und hepatolentikuläre Degeneration (M. Wilson).