Gangliosidosis GM1 Type 2 (Juvenile Gangliosidosis) 4
General: Absence of Band C isoenzymes of β-galactosidase results in neural and visceral deposition of gangliosides and visceral deposition of mucopolysaccharides; autosomal recessive; defective hexosaminidase A; defect localized to chromosome 15 (15q22-l5q25.1).
Ocular: Optic atrophy; pigmentary retinopathy; strabismus; macular cherry-red spot; late optic atrophy.
Clinical: Cerebral degeneration; skeletal changes; visceromegaly; psychomotor deterioration; death between ages 3 and 4 years; abnormal acousticomotor reaction; hypotonia; variable hepatosplenomegaly; abnormal hexosaminidases A and B; defect localized to chromosome 5(5q13).
Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.
Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.
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, 1994:2777.
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