Hunter syndrome (mps ii syndrome; mucopolysaccharidosis ii; systemic mucopolysaccharidosis type ii) 5

General: Sex-linked recessive inheritance; clinically less severe than Hurler syndrome (MPS I) with a longer life span (into adulthood); similar to MPS I (Hurler syndrome), with chondroitin sulfate B and heparitin sulfate excreted in excess in the urine (see Sanfilippo-Good Syndrome; Morquio-Brailsford Syndrome; Scheie Syndrome; Maroteaux-Lamy Syndrome); X-linked recessive inheritance; decreased iduronate sulfatase.

Ocular: Visual fields may be constricted; splitting or absence of Bowman membrane in the periphery; stromal haze may be present; pigmentary degeneration of the retina; night blindness; narrowed retinal vessels and central choroidal sclerosis; bushy eyebrows; coarse eyelashes; ptosis; optic atrophy; papilledema; proptosis; angle-closure glaucoma; corneal clouding; scleral thickening; uveal effusion.

Clinical: Dwarfism; stiff joints; hepatosplenomegaly; gargoyle-like facies.

Abraham FA, et al. Electrophysiological and psychological findings in hunter syndrome. Arch Ophthalmol 1974; 91:181.

Brockhurst RJ. Uveal effusion. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. 1. Philadelphia: WB Saunders, 1994:548.

Frangiegh GT, Traboulsi EI, Kenyon KR. Mucopolysaccharidoses. In: Gold DH, Weingest TA, eds. The Eye in Systemic Disease. Philadelphia: JB Lippincott, 1990:372 376.

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

Karpati G, et al. Multiple peripheral nerve entrapments: an unusual phenotypical variant of the Hunter syndrome (mucopolysaccharidosis II) in a family. Arch Neurol 1974; 31:418-422.

Kenyon KR. The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol 1972; 73:811.

Klintworth GK, et al. Acridine orange particles in cultured fibroblasts, a ative study of macular corneal dystrophy, systemic mucopolysaccharidoses types I-H and II, and normal controls. Arch Pathol Lab Med 1979; 103: 297-299.