Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV
N. J. Newman, T. Starck, K. R. Kenyon, S. Lessell, I. Fish and E. H. Kolodny
Neuro-Ophthalmology Unit, Massachusetts Eye and Ear Infirmary, Boston 02114.
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.
