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August 18, 1978

Eye Findings in the Diagnosis of Fabry's DiseasePatients With Renal Failure

Author Affiliations

From the Department of Ophthalmology (Dr Bloomfield) and the Rogosin Kidney Center (Drs David and Rubin), the New York Hospital-Cornell Medical Center, New York.

JAMA. 1978;240(7):647-649. doi:10.1001/jama.1978.03290070049015

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)