Pupillary dysfunction in an atypical case of mitochondrial myopathy with tubular aggregates.

Abstract excerpt

A 62-year-old man presented with diplopia, ocular ductional deficits, and sluggish pupils. Pupillometry demonstrated large hyporeactive pupils with no evidence of damage to the sympathetic or parasympathetic innervation, indicating a myopathy of the iris musculature. A single large deletion in mitochondrial DNA and characteristic histochemical features on muscle biopsy suggested a mitochondrial cytopathy....

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