Vision related quality of life in spinocerebellar ataxia

https://doi.org/10.1016/j.jns.2015.10.013Get rights and content

Highlights

  • We studied vision related quality of life measures and neuro-ophthalmological deficits in SCA.

  • Vision related quality of life scores are significantly decreased in SCA.

  • Contrast sensitivity and stereo-acuity is decreased in SCA.

  • Multiple defects of eye movement and alignment are seen in SCA.

  • All SCA patients should be screened for visual complaints and referred to neuro-ophthalmology.

Abstract

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.

Introduction

The spinocerebellar ataxias (SCA) are dominantly inherited neuro-degenerative diseases characterized by very gradual evolution of cerebellar ataxia and other neurological deficits. SCA are phenotypically and genotypically heterogeneous with more than 30 identified genetic types [1]. Besides SCA-7, which causes rod-cone dystrophy, other SCA types are not associated with defects of afferent visual pathways [2]. Disorders of eye movement, alignment and gaze stability are prevalent in SCA which leads to diplopia, blurred vision and oscillopsia [3], [4]. Visual symptoms appear early and often precede neurological deficits by several years [5]. The impact of ophthalmological abnormalities on quality of life in SCA is not known. The objective of this study is to assess vision related quality of life measures in SCA and correlate with disease duration, severity and neuro-ophthalmologic abnormalities.

Section snippets

Methods

Subjects were recruited from the neurology clinics at two large centers with dedicated facilities to care for patients with ataxia. The study adhered to the tenets of Declaration of Helsinki and was approved by the institutional review board at both centers. The study design was cross-sectional. Patients were eligible to participate if they had molecularly proven SCA types 1, 2, 3 and 6, had a compatible phenotype for the disease, were of age 18 years or older and agreed to participate in this

Results

Nineteen subjects (15 females; 4 males) were enrolled. The cohort included 11 SCA type 3, 3 SCA type1 and 5 SCA type 6. No eligible SCA type 2 subjects were found. The mean age of the cohort was 56.16 ± 10.66 (SD) years and the mean disease duration was 9.05 ± 6.18 (SD) years. Table 1 summarizes disease severity and visual measures (n = 19). The mean age at examination was 56.16 years (SD 10.66; range 38–75 years); the mean age at onset was 47.16 years (SD 10.63; range 23–63 years). The mean disease

Discussion

To the best of our knowledge, this is the only study of vision related quality of life (VRQOL) measures in SCA. We have shown that VRQOL is significantly decreased in subjects with SCA compared to normal population. Very few studies have evaluated health related quality of life (HRQOL) in SCA. In a cross-sectional study of 84 SCA subjects in Spain, the authors found that the HRQOL (as measured by the EQ-5D) was significantly lower in SCA compared to scores for the general population or subjects

Conclusion

In conclusion, our study shows that VRQOL measures are significantly lower in SCA compared to the normal population. SCA subjects were found to have multiple abnormalities of the visual system which included decreased low contrast sensitivity, stereo-acuity and multiple abnormalities of ocular motility and alignment. These defects likely impair daily activities at near and distance such as reading or driving which compounds the significant disability caused by the neurological deficits. Several

Authorship

Sachin Kedar performed the study concept and design, acquisition of data, analysis of data, statistical analysis, study supervision, and drafting/revising article for content.

Deepta Ghate performed theacquisition of data, statistical analysis, and drafting/revising article for content.

Earnest L. Murray performed the acquisition of data and drafting/revising article for content.

James Corbett performed the drafting/revising article for content and study supervision.

S.H. Subramony performed the

Financial disclosure

Dr. Kedar received royalty for editorial services from Elsevier Inc.

Dr. Ghate reports no financial disclosures.

Dr. Murray reports no financial disclosures.

Dr. Corbett reports no financial disclosures.

Dr. Subramony serves on the Speaker bureau for Athena diagnostics and receives research support from Friedreich Ataxia Research Alliance, Muscular Dystrophy Association, NIH grant no. 1R21AG044449-01A1, ISIS pharmaceuticals and Reatta pharmaceuticals.

Acknowledgements

Study funding: Study was supported by Luckyday Foundation, Jackson, MS.

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