Eye findings in the diagnosis of Fabry's disease. Patients with renal failure
- 18 August 1978
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA
- Vol. 240 (7) , 647-649
- https://doi.org/10.1001/jama.240.7.647
Abstract
Two patients underwent renal transplantation for what was thought to be glomerulonephritis and chronic pyelonephritis. The diagnosis of Fabry''s disease was made as an incidental finding during an ophthalmologic consultation for evaluation of blurred vision. These 2 cases illustrate the usefulness of an eye examination in the correct diagnosis in patients with the multisystem complaints of Fabry''s disease. The correct diagnosis was extremely important in understanding the other manifestations of this disease in the affected patient and in the genetic counseling of the family.This publication has 3 references indexed in Scilit:
- Reversal of an Inborn Sphingolipidosis (Fabry's Disease) by Kidney TransplantationAnnals of Internal Medicine, 1972
- METABOLISM OF CERAMIDE TRIHEXOSIDES .I. PURIFICATION AND PROPERTIES OF AN ENZYME THAT CLEAVES TERMINAL GALACTOSE MOLECULE OF GALACTOSYLGALACTOSYLGLUCOSYLCERAMIDE1967
- Chlorpromazine Epithelial KeratopathyArchives of Ophthalmology (1950), 1966