Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features.
A case of cerebrotendinous xanthomatosis is reported. In addition to the classical ophthalmic and systemic features the patient presented with unilateral proptosis. This feature has never previously been reported. The results of investigations are described and illustrated.
Morgan
S J
SJ
Department of Ophthalmology, Newcastle General Hospital.
McKenna
P
P
Bosanquet
R C
RC
D000328:Adult; D001928:Brain Diseases, Metabolic / Q000150:complications* / Q000188:drug therapy; D005094:Exophthalmos / Q000188:drug therapy / Q000209:etiology*; D006801:Humans; D008297:Male; D013710:Tendons; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use; D014973:Xanthomatosis / Q000150:complications* / Q000188:drug therapy
D014580:Ursodeoxycholic Acid