A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration.
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.
D000293:Adolescent; D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000201:enzymology / Q000473:pathology; D003228:Conjunctiva / Q000473:pathology; D003318:Corneal Opacity / Q000235:genetics*; D046508:Culture Techniques; D005347:Fibroblasts / Q000201:enzymology / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*; D012867:Skin / Q000473:pathology