Farber syndrome (farber lipogranulomatosis; disseminated lipogranulomatosis)

General: Autosomal recessive inheritance; onset shortly after 525g69f birth; rare; ceramidase deficiency.

Ocular: Parafoveal edema with mild cherry-red spot; grayness of the macula; diffuse fine pigmentary changes in the fundus.

Clinical: Progressive hoarseness; swelling of extremities; nodular and granulomatous infiltrations of periarticular and subcutaneous tissue; mild lymphadenopathy; fever attacks; dysphonia and dyspnea; irritability; ceramidase deficiency associated with storage of ceramide in body tissues.

Cogan DG, et al. Retinopathy in a case of Farber's lipogranulomatosis. Arch Ophthalmol 1966; 75:752.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Farber S, et al. Lipogranulomatosis: a new lipo-glycoprotein storage disease. Mt Sinai Hosp Bull 1957; 24:816.

Smith LH. Inherited metabolic disease with pediatric ocular manifestations. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology. vol. V. Philadelphia: WB Saunders, 1994:2778.