Vision related quality of life in spinocerebellar ataxia

Objective Spinocerebellar ataxia (SCA) leads to abnormal ocular motility and alignment. The objective of this study was to quantitatively assess vision, ocular motility and alignment and its impact on vision related quality of life (VRQOL) in SCA. Methods Nineteen genetically diagnosed SCA subjects (11 SCA type 3, 3 SCA type 1 and 5 SCA type 6) participated at two university centers. All subjects completed the National Eye Institute Visual Function Questionnaire (NEI-VFQ), 10-Item Neuro-Ophthalmic Supplement (NOS), scale for assessment and rating of ataxia (SARA) and ophthalmic examination. Twelve subjects seen at one of the 2 sites underwent quantitative ocular motility and alignment assessment. Results Composite scores for NEI-VFQ (mean 76.3 ± 13) and NOS (mean 65.2 ± 16.8) were significantly decreased in SCA subjects. NEI-VFQ subscale scores were decreased for general, near, distance and peripheral vision and driving. SCA patients had decreased low contrast sensitivity, stereoacuity and multiple ocular motility defects which included gaze limitation (9/12), nystagmus (5/12), distance esophoria (11/12), near exophoria (12/12) and receded near point of convergence. A significant negative correlation was noted between composite scores and distance convergence fusional amplitude. Conclusion VRQOL is significantly decreased in SCA compared to normal population. All SCA patients should be screened for visual disability and referred for neuro-ophthalmic assessment promptly.