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    Am J Ophthalmol. 1975 Sep;80(3 Pt 1):440-9.

    A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration.

    Newell FW, Matalon R, Meyer S.

    Abstract

    A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.

    PMID:
    169696
    [PubMed - indexed for MEDLINE]

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