title: Treatment of corneal opacification in mucolipidosis IV with conjunctival transplantation.
abstract: Mucolipidosis IV is a rare, inherited metabolic storage disease producing progressive psychomotor retardation and congenital corneal clouding. Histopathologic studies have shown that the corneal epithelium is strikingly involved with intracytoplasmic vacuolated storage material with relative noninvolvement of the corneal stroma and endothelium. Additionally, it has been noted that epithelial removal results in corneal clarity. We treated a 28-month-old patient with mucolipidosis IV with conjunctival transplantation with donor conjunctiva from an unaffected sibling. Improved corneal clarity resulted and has persisted with a follow-up of one year.
mesh_terms: D000328:Adult; D003228:Conjunctiva / Q000637:transplantation*; D003315:Cornea / Q000648:ultrastructure; D003318:Corneal Opacity / Q000473:pathology / Q000628:therapy*; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000150:complications*