Eye findings in the diagnosis of Fabry's disease. Patients with renal failure
Bloomfield, S.E.; David, D.S.; Rubin, A.L.
JAMA 240(7): 647-649
1978
ISSN/ISBN: 0098-7484 PMID: 97403 Document Number: 126540
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 two 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.