Spinocerebellar Ataxia with Oculomotor Apraxia and Severe Corneal Astigmatism  

作　　者：Paola Michieletto Andrea Martinuzzi Stefano Pensiero 

机构地区：[1]Institute for Maternal and Child Health—IRCCS Burlo Garofolo, Trieste, Italy. [2]IRCCS Eugenio Medea, Polo di Conegliano and Pieve di Soligo (TV), Italy

出　　处：《Open Journal of Ophthalmology》2013年第2期33-36,共4页眼科学期刊（英文）

摘　　要：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.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.

关 键 词：SPINOCEREBELLAR ATAXIA OCULOMOTOR APRAXIA CORNEAL ASTIGMATISM 

分 类 号：R74[医药卫生—神经病学与精神病学]