Sandhoff Disease (Gangliosidosis Type 2 [GM2])
General: Hereditary cerebromacular degeneration-sphingolipidoses; onset by age 6 months; autosomal recessive inheritance; enzyme defect; caused by deficiency of hexosaminidases A and B; defect localized to chromosome 5 (5q13).
Ocular: Cherry-red spot of macula; visual loss; clinically identical to Tay-Sachs disease.
Clinical: Motor retardation; doll-like facies; dementia; hyperacusis; frequent respiratory infections; variable hepatosplenomegaly.
Brownstein S, et al. Sandhoff's disease (GM2 gangliosidosis type 2). Histopathology and ultrastructure of the eye. Arch Ophthalmol 1980; 98:1089-l097.
Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.
Messer G, et al. Ultrastructure of the conjunctiva, skin and gingiva: a case of Sandhoff's disease in a Jewish patient. Arch Pathol Lab Med 1980; 104:123-l29.
Nrby S, et al. Retinal and cerebellar changes in early fetal Sandhoff disease (GM2-gangliosidosis type 2). Metab Pediatr Ophthalmol 1980; 4:115-l19.
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, 1994:3102-3120.
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