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February 1990

Corneal Surface Irregularities and Episodic Pain in a Patient With Mucolipidosis IV

Author Affiliations

From the Neuro-Ophthalmology Unit (Drs Newman and Lessell) and Cornea Service (Drs Starck and Kenyon), Massachusetts Eye and Ear Infirmary, Boston; the Departments of Ophthalmology (Drs Newman, Starck, Kenyon, and Lessell) and Neurology (Dr Kolodny), Harvard Medical School, Boston; the Eye Research Institute, Boston (Dr Kenyon); the Department of Neurology, New York (NY) University Medical Center (Dr Fish); the Eunice Kennedy Shriver Center for Mental Retardation, Waltham, Mass (Dr Kolodny); and the Department of Neurology, Massachusetts General Hospital, Boston.

Arch Ophthalmol. 1990;108(2):251-254. doi:10.1001/archopht.1990.01070040103041

• Mucolipidosis IV is a lysosomal storage disease characterized by prominent involvement of the corneal epithelium. A 5-year-old boy with mucolipidosis IV experienced recurrent episodes of severe ocular pain, tearing, and ipsilateral facial flushing. This was suggestive of reflex sympathetic dystrophy, a syndrome of pain and sympathetic hyperactivity. The examination revealed marked corneal surface irregularities, corresponding to massive accumulations of intracytoplasmic storage material in the epithelium. Episodic pain in patients with mucolipidosis IV is an important symptom, presumably reflecting the distinctive corneal ultrastructural abnormality in this disease.

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