title: Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.
abstract: OBJECTIVE
  To comprehensively describe the ophthalmic characteristics of patients with mucolipidosis type IV.
  
  
  METHODS
  Prospective natural history study.
  
  
  METHODS
  Twenty-two patients with confirmed mucolipidosis type IV. METHODS OR TESTING: External and slit-lamp examination with dilated funduscopy, photography of corneal and retinal lesions, and exfoliative conjunctival cytology were performed.
  
  
  METHODS
  Grading of corneal, optic nerve, retinal vasculature, and pigmentary abnormalities.
  
  
  RESULTS
  All patients exhibited some degree of corneal epithelial haze, optic nerve pallor, retinal vascular attenuation, and retinal pigment epithelial changes. The associated ocular findings observed in decreasing order of frequency were strabismus, corneal erosion, cataract, corneal abnormalities, fundus abnormalities, and ptosis. The older patients were significantly more likely to demonstrate severe optic nerve pallor, retinal vascular attenuation, and corneal epithelial haze. Conjunctival cytologic studies showed characteristic lysosomal inclusions on light and electron microscopy.
  
  
  CONCLUSIONS
  Patients with mucolipidosis type IV have characteristic ophthalmic features, most of which have a progressive course. Conjunctival cytologic studies help confirm the diagnosis of this disorder.
authors.affiliation: National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1857, Bethesda, MD 20892, USA.
authors.forename: Janine A
authors.initials: JA
authors.lastname: Smith
authors.forename: Chi-Chao
authors.initials: CC
authors.lastname: Chan
authors.forename: Ehud
authors.initials: E
authors.lastname: Goldin
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003229:Conjunctival Diseases / Q000175:diagnosis; D003316:Corneal Diseases / Q000175:diagnosis; D005128:Eye Diseases / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis*; D009901:Optic Nerve Diseases / Q000175:diagnosis; D011446:Prospective Studies; D012164:Retinal Diseases / Q000175:diagnosis; D012171:Retinal Vessels / Q000473:pathology