Spinocerebellar Ataxia with Oculomotor Apraxia and Severe Corneal Astigmatism

• 作者: Andrea Martinuzzi Paola Michieletto Stefano Pensiero
• 来源期刊: 眼科学期刊(英文)
• 学科: 医学
• 关键词: SPINOCEREBELLAR ATAXIA OCULOMOTOR APRAXIA CORNEAL ASTIGMATISM
• 年，卷（期）: 2013,（2）
• 页码范围: 33-36
• 页数: 4页
• 分类号: R74

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.