ML IV (Mucolipidosis IV; Berman Syndrome)
General: Storage disease in which corneal clouding is an early sign with no evidence 545g66f of systemic involvement until age 1 year; autosomal recessive; cases seen in Ashkenazi Jews; abnormal neuraminidase.
Ocular: Corneal clouding; corneal opacities; epithelial edema; retinal atrophy; pale optic nerve; diffuse corneal clouding present at birth or in early infancy.
Clinical: Progressive psychomotor retardation; skeletal dysplasia; facial anomalies.
Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.
Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.
Folkerth RD, et al. Mucolipidosis IV. Morphology and histochemistry of an autopsy case. J Neuropathol Exp Neurol 1995; 54:154-l64.
Merin S, et al. Mucolipidosis IV. Ocular, systemic, and ultrastructural findings. Invest Ophthalmol 1975; 14:437-448.
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