Gaucher syndrome (glucocerebroside storage disease; glucosyl ceramide lipidosis; cerebroside lipidosis)

General: Storage of glucocerebroside in the reticuloendothelial system; autosomal recessive; occurs frequently in Jewish families; onset at any age; onset usually sudden in the infantile form; disease belongs to group of lipid storage disturbances such as ganglioside (Tay-Sachs), sphingomyelin (Niemann-Pick), and ceramide trihexoside (Fabry) (see Tay-Sachs Syndrome; Niemann-Pick Syndrome; Fabry Syndrome); caused by glucosylceramide β-glucosidase (glucocerebrosidase) deficiency; psychomotor deterioration apparent before age 6 months.

Ocular: Strabismus; brown-yellowish, wedge-shaped pinguecula; corneal clouding; oculomotor paralysis; gaze palsies.

Clinical: Infantile form: generalized hypertonia, opisthotonus, dysphagia, vomiting, laryngeal spasm, dyspnea; chronic form: hepatosplenomegaly, lymphadenopathy, mild-to moderate anemia, yellowish-brown patchy skin pigmentation.

Cogan DG, et al. Fundal abnormalities of Gaucher's disease. Arch Ophthalmol

Gaucher PCE. De l'Epithelioma Primitif de la Rate, Hypertrophie Idiopathique de la Rate sans Leucemie. Thesis, University of Paris, 1882.

Petrohelos M, et al. Ocular manifestations of Gaucher's disease. Am J Ophthalmol 1975; 80:1006-l010.

Sanders MD, Lake BD. Ocular movements in lipid storage disease. Reports of juvenile Gaucher disease and the ophthalmoplegic lipidosis. Birth Defects 1976; 12:535-542.

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