Abstract A syndrome characterized by progressive hoarseness, nodular swellings over the joints simulating rheumatoid arthritis, and death in early infancy was described by Farber and colleagues in 1957 under the heading of "disseminated lipogranulomatosis."1 It is currently being reviewed by Crocker et al.2 The entity has come to be known as Farber's disease since the term "lipogranulomatosis" is not sufficiently distinctive and since Farber had established priority by referring to it in previous discussions of the lipidoses.3 One of Farber's original three cases was noted to have been blind, but the fundi showed no abnormality and no histologic study was made of the eyes postmortem. In the other two cases of the entity which have been reported,4,5 no mention has been made of any ocular abnormality in the retina or choroid. The present report is based on the clinical and pathologic study of a patient who was References 1. Farber, S.; Cohen, J.; and Uzman, L.L.: Lepogranulomatosis: A New Lipo-glyco-protein Storage Disease , Mt Sinai Hosp Bull 24:816, 1957. 2. Crocker, A.C.; Cohen, J.; and Farber, S.: New Studies in the "Lipogranulomatosis" Syndrome, presented at Symposium on Cerebral Sphingolipidoses, Isaac Albert Research Institute, Brooklyn, NY, Oct 26, 1965, to be published. 3. Farber, S.: A Lipid Metabolic Disorder—Disseminated "Lipogranulomatosis"—A Syndrome With Similarity to, and Important Difference From, Niemann-Pick and Hand-Schuller-Christian Disease, abstracted , Amer J Dis Child 84:499-500, 1952. 4. Zetterström, R.: Disseminated Lipogranulomatosis (Farber's Disease) , Acta Paediat 47:501-510, 1958.Crossref 5. Abul-Haj, S.K., et al: Farber's Disease: Report of a Case With Observations on its Histogenesis and Notes on the Nature of the Stored Material , J Pediat 61:221-232, 1962.Crossref 6. Hazard, G.W., and Moser, H.: To be published. 7. Cogan, D.G., and Kuwabara, T.: Histochemistry of the Retina in Tay-Sachs Disease , Arch Ophthal 61:414-423, 1959.Crossref 8. Cogan, D.G., et al: Histochemistry of the Eye in Metachromatic Leukoencephalopathy , Arch Ophthal 60:397-402, 1958.Crossref 9. Walsh, F.B.: Clinical Neuro-ophthalmologyy , ed 2, Baltimore: Williams & Wilkins, 1957. 10. Cogan, D.G., and Federman, D.: Retinal Involvement With Reticuloendotheliosis of Unclassified Type , Arch Ophthal 71:489-491, 1964.Crossref
Archives of Ophthalmology – American Medical Association
Published: Jun 1, 1966
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