Ocular motor dysfunction in Lesch-Nyhan disease.

@article{Jinnah2001OcularMD,
  title={Ocular motor dysfunction in Lesch-Nyhan disease.},
  author={H. A. Jinnah and Rowena F Lewis and Jasper E. Visser and Gary E Eddey and Gabor Barabas and James Harris},
  journal={Pediatric neurology},
  year={2001},
  volume={24 3},
  pages={200-4}
}
Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fixation was interrupted by frequent unwanted saccades toward minor visual distractions. Voluntary saccades were associated with an initial head movement and/or eyeblink in all of… CONTINUE READING