Scheie Syndrome (Mucopolysaccharidosis IS; MPS IS; MPS V; Mucopolysaccharidosis V) 1130

General: Autosomal recessive; chondroitin sulfate B excreted in excess in the urine; formerly MPS V (see Hurler Syndrome; Hunter Syndrome; Sanfilippo-Good Syndrome; Morquio Syndrome; Maroteaux-Lamy Syndrome). Both sexes affected; deficiency of α-L-iduronidase; increased urinary dermatan and heparan sulfate; fibrous long-spacing collagen on histopathologic examination; least severe form of mucopolysaccharidosis.

Ocular: Night blindness; fields may show general constriction; ring scotomata; diffuse corneal haze to marked corneal clouding (progressive); bushy eyebrows; coarse eyelashes; optic atrophy; anisocoria; cataracts; proptosis; acid mucopolysaccharide deposits in the iris and sclera; tapetoretinal degeneration; glaucoma.

Clinical: Normal intelligence; broad facies; thickened joints; aortic valvular disease; psychosis; claw hand; carpal tunnel syndrome; excessive body hair; progressive juxtaarticular cystic lesions.

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

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Hamilton E, Pitt P. Articular manifestations of Scheie's syndrome. Ann Rheum Dis 1992; 51:542-543.

Quigley HA, Goldberg ME Scheie's Syndrome and macular corneal dystrophy: an ultrastructural comparison of conjunctiva and skin. Arch Ophthalmol 1971; 85:553.

Rummelt V, et al. Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome). Cornea 1992; 11:86-92.

Scheie HG, et al. A newly recognized form fruste of Hurler's disease (gargoylism). Am J Ophthalmol 1962; 53:753.