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.
(JAMA 240:647-649, 1978)
Bloomfield SE, David DS, Rubin AL. Eye Findings in the Diagnosis of Fabry's DiseasePatients With Renal Failure. JAMA. 1978;240(7):647-649. doi:10.1001/jama.1978.03290070049015