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RETINAL NEURODEGENERATION IN HUNTINGTON'S DISEASE

Abstract

The purpose was to analyze retinal morphology and to investigate the correlation with the clinical data in Huntington's disease (HD).Material and methods. A cross-sectional study was performed to evaluate the retinal parameters in HD and healthy controls with the use of optical coherence tomography (OCT).Results. The range of the CAG (cytosine-adenine-guanine) repeat expansion size was 38-56 repeats, the range of Unified HD Rating Scale motor scores (UHDRS) was 36.3±29.7, and disease duration was 13.7±7.2 years in HD patients. A significant decreasein the ganglion cell complex thickness, average, temporal, inferior and nasal retinal nerve fiber layer in HD subjects was revealed inOCT examination in comparison with control group. An inverse correlation between the disease duration and the temporal retinal nerve fiber layer thickness was found.Conclusions. The localization of retinal thickness loss indicates a specific pattern of retinal neurodegeneration in HD, similar to Parkinson’s disease and mitochondrial diseases. The association with the disease duration confirms the progressive nature of these changes.

About the Authors

S. N. Svetozarskiy
Приволжский исследовательский медицинский университет
Russian Federation


S. V. Kopishinskaya
ФГБОУ ВО «Приволжский исследовательский медицинский университет» Минздрава России
Russian Federation


I. G. Smetankin
ФГБОУ ВО «Приволжский исследовательский медицинский университет» Минздрава России
Russian Federation


References

1. Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage / U. Shirendeb [et al.] // Hum. Mol. Genet. - 2011. - Vol. 20, №7. - P. 1438-1455

2. Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study / C. Demetriou [et al.] // Clin Genet. - 2018. - Vol. 93. - P. 656-664

3. Ghosh, R. Clinical Features of Huntington's Disease / R. Ghosh, S. Tabrizi // Adv. Exp. Med. Biol. - 2018. - Vol. 1049. - P. 1-28

4. The first data on retinal optical coherence tomography parameters in Huntington’s disease / S. Kopishinskaya [et al.] // Eur. J. Neurol. - 2014. - Vol. 21(Suppl 1). - P. 36

5. Optical coherence tomography findings in Huntington’s disease: a potential biomarker of disease progression / H. Kersten [et al.] // J. Neurol. - 2015. - Vol. 262, №11. - P. 2457-2465

6. Patterns of Retinal Ganglion Cell Damage in Neurodegenerative Disorders: Parvocellular vs Magnocellular Degeneration in Optical Coherence Tomography Studies / C. La Morgia [et al.] // Front. Neurol. - 2017. - Vol. 8. - P. 710

7. Retinal single-layer analysis with optical coherence tomography shows inner retinal layer thinning in Huntington’s disease as a potential biomarker / D. Sevim [et al.] // Int. Ophthalmol. - 2019. -Vol. 39, №3. - P. 611-621

8. Spectral-Domain Optical Coherence Tomography as a Potential Biomarker in Huntington's Disease / C. Andrade [et al.] // Mov. Disord. - 2016. - Vol. 31, №3. - P. 377-383

9. Wong-Riley, M. Energy metabolism of the visual system / M. Wong-Riley // Eye Brain. - 2010. - Vol. 2. - P. 99-116


Review

For citations:


Svetozarskiy S.N., Kopishinskaya S.V., Smetankin I.G. RETINAL NEURODEGENERATION IN HUNTINGTON'S DISEASE. Bashkortostan Medical Journal. 2020;15(4):38-40. (In Russ.)

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ISSN 1999-6209 (Print)