Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV.
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.
Smith
Janine A
JA
National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1857, Bethesda, MD 20892, USA.
Chan
Chi-Chao
CC
Goldin
Ehud
E
Schiffmann
Raphael
R
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