ML III (Pseudo-Hurler Polydystrophy; Mucolipidosis III)
General: Autosomal recessive dis 333c28d order, almost indistinguishable biochemically from mucolipidosis II; decreased levels of N-acetylglucosamine phosphotransferase.
Ocular: Increased corneal thickness; wrinkled maculopathy; granular pigmentary changes of fundus; papilledema; hyperopic astigmatism; corneal opacities; retinal vascular tortuosity; visual field defects.
Clinical: Joint stiffness; coarse facial feature; short stature; aortic valve disease; arm and hand deformities; self-mutilation of the distal phalanges; carpal tunnel syndrome.
Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.
Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.
Traboulsi EI, Maumenee IH. Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy). Am J Ophthalmol 1986; 102:592-597.
Zammarchi E, et al. Self-mutilation in a patient with mucolipidosis III. Pediatr Neurol 1994; 11:68-70.
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