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E. Tahvanainen, A. S. Villanueva, H. Forsius, P. Salo and A. de la Chapelle, “Dominantly and Recessively Inherited Cornea Plana Congenita Map to the Same Small Region of Chromosome 12,” Genome Research, Vol. 6, No. 4, 1996, pp. 249-254. doi:10.1101/gr.6.4.249

has been cited by the following article:

• TITLE: Spinocerebellar Ataxia with Oculomotor Apraxia and Severe Corneal Astigmatism

  AUTHORS: Paola Michieletto, Andrea Martinuzzi, Stefano Pensiero

  KEYWORDS: Spinocerebellar Ataxia; Oculomotor Apraxia; Corneal Astigmatism

  JOURNAL NAME: Open Journal of Ophthalmology, Vol.3 No.2, May 14, 2013

  ABSTRACT: Purpose: To disclose the association between spinocerebellar ataxia with oculomotor apraxia and high grade (7 diopters) congenital astigmatism. Methods: Single observational case report. A 39-year-old patient affected by spinocerebellar ataxia from the age of 20 was submitted to genetic and ophthalmic investigations to reach a diagnosis. Results: Genetic testing did not lead to a sure diagnosis, while clinical and instrumental ophthalmic examinations pointed out an oculomotor apraxia and a congenital severe astigmatism. Conclusion: To conclude the eye movement recording permitted to identify an oculomotor apraxia in this case of spinocerebellar ataxia. This is the first report of severe astigmatism in cases of ataxia with oculomotor apraxia.