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

Frank W. Newell; Reuben Matalon; Steven Meyer

doi:10.1016/0002-9394(75)90532-2

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

Frank W. Newell, Reuben Matalon, Steven Meyer

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33 Scopus citations

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 language	English (US)
Pages (from-to)	440-449
Number of pages	10
Journal	American Journal of Ophthalmology
Volume	80
Issue number	3 PART 1
DOIs	https://doi.org/10.1016/0002-9394(75)90532-2
State	Published - Sep 1975
Externally published	Yes

ASJC Scopus subject areas

Ophthalmology

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10.1016/0002-9394(75)90532-2

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

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.",

author = "Newell, {Frank W.} and Reuben Matalon and Steven Meyer",

note = "Funding Information: From the Departments of Ophthalmology (Drs. Newell and Meyer) and Pediatrics (Dr. Matalon), the University of Chicago, Chicago, Illinois. This study was supported in part by Public Health Service grants EY-00523 and FR-55 from the National Institutes of Health. ' Presented at the 111th meeting of the American Ophthalmological Society, the Homestead, Virginia, May 30, 1975.",

year = "1975",

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doi = "10.1016/0002-9394(75)90532-2",

language = "English (US)",

volume = "80",

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journal = "American Journal of Ophthalmology",

issn = "0002-9394",

publisher = "Elsevier USA",

number = "3 PART 1",

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T1 - A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration

AU - Newell, Frank W.

AU - Matalon, Reuben

AU - Meyer, Steven

N1 - Funding Information: From the Departments of Ophthalmology (Drs. Newell and Meyer) and Pediatrics (Dr. Matalon), the University of Chicago, Chicago, Illinois. This study was supported in part by Public Health Service grants EY-00523 and FR-55 from the National Institutes of Health. ' Presented at the 111th meeting of the American Ophthalmological Society, the Homestead, Virginia, May 30, 1975.

PY - 1975/9

Y1 - 1975/9

N2 - 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.

AB - 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.

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JO - American Journal of Ophthalmology

JF - American Journal of Ophthalmology

IS - 3 PART 1

ER -

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

Abstract

ASJC Scopus subject areas

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