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.