[Ocular findings in Charcot-Marie-Tooth disease, HMSN type I].
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.
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications*; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005128:Eye Diseases / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000150:complications*; D014794:Visual Fields
Ophthalmologische Befunde bei der neuralen Muskelatrophie. Charcot-Marie-Tooth, HMSN Typ 1.