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The pupil in familial dysautonomia

Department of Neurology, Mount Sinai School of Medicine, City University of New York (Drs. Rubenstein and Yahr), the Department of Pediatrics, New York University School of Medicine (Dr. Axelrod), and the Departments of Physiology and Pharmacology, Tel-Aviv University School of Medicine (Dr. Korczyn).

We performed infrared pupillography on 10 patients with familial dysautonomia. Pupillary constriction to light and accommodation was normal. There was no evidence for light-near dissociation, and tonic responses were not observed. Dilation in darkness was normal. Ocular application of dilute pilocarpine produced miosis in all patients. Supersensitivity of the pupil to muscarinic agents in familial dysautonomia is unlikely to be explained by parasympathetic denervation. Possible explanations for this phenomenon include diminished lacrimation and corneal ulcerations.

Address correspondence and reprint requests to Dr. Rubenstein, Department of Neurology, Mt. Sinai School of Medicine, 1 Gustave Levy Place, New York, NY 10029.

Dr. Korczyn was a Visiting Professor of Neurology from Tel-Aviv University School of Medicine.

This paper has been supported in part by N.I.H. grant No. NS 11631-07 and a grant from the Dysautonomia Foundation.

Accepted for publication July 29, 1980.