Ml ii (i-cell disease; mucolipidosis ii)

General: Autosomal recessive mucolipidosis is a Hurler-like disorder with some radiologic features, striking fibroblast inclusions, and no excess mucopolysacchariduria; abnormal N-acetylglucosamine phosphotransferase.

Ocular: Minimal corneal clouding; glaucoma; megalocornea.

Clinical: Congenital dislocation of the hips; thoracic deformities; hernia; hyperplastic gums; retarded psychomotor development and restricted joint mobility; dysmorphic facies; skeletal deformities; organomegaly; short stature; mental retardation.

Ben-Yoseph, et al. Mucolipidoses II and III variants with normal N-acetylglucosamine I-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations. Am J Hum Genet 1992; 50:137-l44.

Borit A, et al. Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings. Graefes Arch Klin Exp Ophthalmol 1976; 198:25-32.

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

Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.

Libert J, et al. Ocular findings in I-cell disease (mucolipidosis type II). Am J Ophthalmol 1977; 83:617-628.