Strabismus and Micro-Opsoclonus in Machado-Joseph Disease
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We describe novel deficits of gaze holding and ocular alignment in patients with spinocerebellar ataxia type 3, also known as Machado-Joseph disease (MJD). Twelve MJD patients were studied. Clinical assessments and quantitative ocular alignment measures were performed. Eye movements were quantitatively assessed with corneal curvature tracker and video-oculography. Strabismus was seen in ten MJD patients. Four patients had mild to moderate intermittent exotropia, three had esotropia, one had skew deviation, one had hypotropia, and one patient had moderate exophoria. Three strabismic patients had V-pattern. Near point of convergence was normal in two out of three patients with exotropia. Gaze holding deficits were also common. Eight patients had gaze-evoked nystagmus, and five had micro-opsoclonus. Other ocular motor deficits included saccadic dysmetria in eight patients, whereas all had saccadic interruption of smooth pursuit. Strabismus and micro-opsoclonus are common in MJD. Coexisting ophthalmoplegia or vergence abnormalities in our patients with exotropia that comprised 50 % of the cohort could not explain the type of strabismus in our patients. Therefore, it is possible that involvement of the brainstem, the deep cerebellar nuclei, and the superior cerebellar peduncle are the physiological basis for exotropia in these patients. Micro-opsoclonus was also common in MJD. Brainstem and deep cerebellar nuclei lesion also explains micro-opsoclonus, whereas brainstem deficits can describe slow saccades seen in our patients with MJD.
KeywordsCerebellum Brainstem Burst neurons Vergence Saccade
This work was supported by Dystonia Medical Research Foundation Clinical Fellowship grant (AS), Knights Templar Eye Foundation grant (FG), Research to Prevent Blindness grant (FG), and Blind Children’s Center grant (FG). Authors thank Dr. John Leigh for collegial support and help with technical equipment. Dr. Leigh was supported by NIH EY06717. Patients recruited from Emory University also participated in studies supported by the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA). The consortium was funded through the Rare Disease Clinical Research Network (RDCRN) (RC1NS068897).
Conflict of Interests
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