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

Frank W. Newell, Reuben Matalon, Steven Meyer

Research output: Contribution to journalArticle

28 Citations (Scopus)

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

Fingerprint

Mucolipidoses
Retinal Degeneration
Mucopolysaccharidoses
Optic Atrophy
Retinal Vessels
Muscle Hypotonia
Membranes
Conjunctiva
Hydrolases
Ataxia
Vacuoles
Skeleton
Reflex
Extremities
Fibroblasts

ASJC Scopus subject areas

  • Ophthalmology

Cite this

A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. / Newell, Frank W.; Matalon, Reuben; Meyer, Steven.

In: American Journal of Ophthalmology, Vol. 80, No. 3 PART 1, 1975, p. 440-449.

Research output: Contribution to journalArticle

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