OJOph  Vol.3 No.2 , May 2013
Spinocerebellar Ataxia with Oculomotor Apraxia and Severe Corneal Astigmatism
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.



Cite this paper
P. Michieletto, A. Martinuzzi and S. Pensiero, "Spinocerebellar Ataxia with Oculomotor Apraxia and Severe Corneal Astigmatism," Open Journal of Ophthalmology, Vol. 3 No. 2, 2013, pp. 33-36. doi: 10.4236/ojoph.2013.32009.
References
[1]   T. Klockgether and H. Paulson, “Milestones in Ataxia,” Movement Disorders, Vol. 26, No. 6, 2011, pp. 1134-1141. doi:10.1002/mds.23559

[2]   B. L. Fogel and S. Perlman, “Clinical Features and Molecular Genetics of Autosomal Recessive Cerebellar Ataxias,” The Lancet Neurology, Vol. 6, No. 3, 2007, pp. 245257. doi:10.1016/S1474-4422(07)70054-6

[3]   C. M. Harris, F. Shawkat, I. Russell-Eggitt, J. Wison and D. Taylor, “Intermittent Horizontal Saccade Failure (Ocular Motor Apraxia) in Children,” British Journal of Ophthalmology, Vol. 80, No. 2, 1996, pp. 151-158. doi:10.1136/bjo.80.2.151

[4]   M. Anheim, B. Monga, M. Fleury, P. Charles, C. Barbot, M. Salih, J. P. Delaunoy, M. Fritsch, L. Arning, M. Synofzik, L. Sch?ls, J. Sequeiros, C. Goizet, C. Marelli, I. Le Ber, J. Koht, J. Gazulla, J. De Bleecker, M. Mukhtar, N. Drouot, L. Ali-Pacha, T. Benhassine, M. Chbicheb, A. M’Zahem, A. Hamri, B. Chabrol, J. Pouget, R. Murphy, M. Watanabe, P. Coutinho, M. Tazir, A. Durr, A. Brice, C. Tranchant and M. Koenig, “Ataxia with Oculomotor Apraxia Type 2: Clinical, Biological and Genotype/Phenotype Correlation Study of a Cohort of 90 Patients,” Brain, Vol. 132, No. 10, 2009, pp. 2688-2698. doi:10.1093/brain/awp211

[5]   T. L. Young, R. Metlapally and A. E. Shay, “Complex Trait Genetics of Refractive Error,” Archives of Ophthalmology, Vol. 125, No. 1, 2007, pp. 38-48. doi:10.1001/archopht.125.1.38

[6]   M. Clementi, M. Angi, P. Forabosco, E. Di Gianantonio and R. Tenconi, “Inheritance of Astigmatism: Evidence for a Major Autosomal Dominant Locus,” The American Journal of Human Genetics, Vol. 63, 1998, pp. 825-830. doi:10.1086/302014

[7]   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

[8]   N. S. Pellegata, J. L. Dieguez-Lucena, T. Joensuu, S. Lau, K. T. Montgomery, R. Krahe, T. Kivel?, R. Kucherlapati, H. Forsius and A. de la Chapelle, “Mutations in KERA, Encoding Keratocan, Cause Cornea Plana,” Nature Genetics, Vol. 25, No. 1, 2000, pp. 91-95. doi:10.1038/75664

[9]   E. S. Tasheva, A. Ke and G. W. Conrad, “Analysis of the Expression of Chondroadherin in Mouse Ocular and NonOcular Tissues,” Molecular Vision, Vol. 10, 2004, pp. 544554.

 
 
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