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

Frank W. Newell, Reuben Matalon, Steven Meyer

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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 were no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissuecultured cells and conjunctiva.

Original languageEnglish (US)
Pages (from-to)440-449
Number of pages10
JournalAmerican Journal of Ophthalmology
Volume80
Issue number3 PART 1
StatePublished - Sep 1975
Externally publishedYes

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ASJC Scopus subject areas

  • Ophthalmology

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