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A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy

From St. Mary's Hospital (Dr. Coppeto), Waterbury, CT and the Neuro-Ophthalmology Unit (Dr. Leasell), Massachusetts Eye and Ear Infirmary, and the Department of Ophthalmology, Harvard Medical School, Boston, MA.

We report the clinical and laboratory findings in 2 siblings with a syndrome of pigmentary retinopathy, blepharospasm, and dystonia. This entity most resembles Hallervorden-Spatz disease, but appears to be a distinct disorder without identifiable neuroimaging or biochemical abnormalities.

Address correspondence and reprint requests to Dr. James R. Coppeto, 541 Wolcott Street, Waterbury, CT 06705.

Received November 17, 1989. Accepted for publication in final form February 20, 1990.

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