Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings.
A 5 1/2 year old boy with I-cell disease (mucolipidosis II) had bilateral corneal haziness, early cortical cataracts and bilateral prominence of his eyes associated with shallow bony orbits. He died of pneumonia at age 5 1/2 years. Light and electron microscopic examination of the ocular and orbital tissues revealed an accumulation of acid mucopolysaccharide positive, hyaluronidase resistant material in fibroblasts and histiocytes which had partially replaced Bowman's membrane and the anterior stromal cells of the cornea. Similar material, as well as glycolipid-like substance, was found in the conjunctiva and in the retrobulbar soft tissues.
D001344:Autopsy; D002386:Cataract / Q000150:complications* / Q000473:pathology; D002675:Child, Preschool; D005123:Eye / Q000473:pathology*; D005347:Fibroblasts / Q000032:analysis; D006644:Histiocytes / Q000032:analysis; D006801:Humans; D008297:Male; D009915:Orbit / Q000473:pathology; D013577:Syndrome