• Twenty-seven members of a family with dominantly inherited Charcot-Marie-Tooth disease (CMTD) were examined. Fifteen members had CMTD and 13 of these had varying amounts of myotonic pupillary abnormalities similar in some ways to Adie tonic pupil syndrome. Those with graver neurologic disease showed greater pupillary abnormalities. Ten of the 15 patients had pupillary constriction with methacholine chloride (Mecholyl) and some of these had extensive iris atrophy. Several affected patients received symptomatic relief from 0.025% pilocarpine.
Seven other patients with CMTD who were not related to our initial family were checked for myotonic pupils; two had findings similar to our initial family.
Pupillary abnormalities in certain patients with CMTD appear secondary to a parasympathetic denervation of the iris sphincter and ciliary muscle, as shown by a positive methacholine test, and probably represent part of the autonomic nervous system dysfunction associated with the polyneuropathy in CMTD.
Keltner JL, Swisher CN, Gay AJ, Hepler RS. Myotonic Pupils in Charcot-Marie-Tooth Disease: Successful Relief of Symptoms With 0.025% Pilocarpine. Arch Ophthalmol. 1975;93(11):1141–1148. doi:10.1001/archopht.1975.01010020853005
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