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2009-12-07 05:41:17 (UTC)

Ocular findings in Charcot-Marie-Tooth disease, HMSN type I

[Article in German]

Bürki E.

The ocular findings are described in nine patients with
Charcot-Marie-Tooth muscular atrophy, who were also
classified as suffering from Type I hereditary motor and
sensory neuropathy on the basis of genetic, clinical and
electromyographic studies. Although only three patients
admitted to visual symptoms and all nine patients had full
vision in both eyes, combined visual evoked potential and
contrast sensitivity testing revealed optic nerve
involvement in one or both eyes of seven patients. Four
patients showed impaired accommodation and tonic pupils,
and electroretinography revealed pigmentosa-like tracings
in two patients. The high percentage of subclinical optic
nerve lesions has not been previously reported; however,
the remaining findings are in agreement with those of
previous authors.


http://www.ncbi.nlm.nih.gov/pubmed/7347789


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