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Retinal dysfunction in a presymptomatic patient with Huntington’s disease

  • Clinical Case Report
  • Published:
Documenta Ophthalmologica Aims and scope Submit manuscript

Abstract

Purpose

Huntington’s disease (HD) is an autosomal dominant, neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Studies have shown retinal abnormalities in patients and mouse models with HD; however, to our knowledge, no prior research papers evaluated retinal structure and function in a presymptomatic patient with HD. The aim of this report is to present a case of retinal dysfunction in a presymptomatic patient with HD.

Methods

We investigated retinal structure and function in a 25-year-old male who tested positive for the gene that causes HD, but did not have any symptoms normally associated with HD. Vision and ocular testing included a comprehensive dilated ophthalmic examination, 24-2 full-threshold Humphrey visual field, spectral-domain optical coherence tomography (SD-OCT), fundus photography, full-field electroretinogram (ERG), and multifocal electroretinogram (mfERG).

Results

Visual electrophysiology testing showed rod and cone functional anomalies in both eyes. Full-field ERG amplitudes were subnormal in both eyes for the dark-adapted (DA) 0.01 ERG, DA 3 ERG, DA 3 oscillatory potentials (OPs), DA 10 ERG, light-adapted (LA) 3 ERG, and LA 30 Hz flicker, but peak times for the six standard ERG responses were not significantly different from normals. mfERGs revealed functional anomalies of the central retina with attenuated P1 amplitudes for five of the six concentric rings in the right eye and all six rings in the left eye. mfERG P1 peak times were normal at all eccentricities. Dilated fundus examination, SD-OCT, and fundus photography were unremarkable in both eyes. The visual field was normal in the right eye, but there was a mild paracentral field defect in the left eye.

Conclusions

Our results illustrate that the ERG and mfERG detected early retinal dysfunction in a presymptomatic patient with HD consistent with electroretinogram findings in animal models of HD. However, our report was limited to one patient and additional studies are needed to verify whether the ERG and/or mfERG can uncover neural dysfunction before motor, behavioral, and cognitive abnormalities are discernible in patients with HD.

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Funding

This study was partially funded by the American Academy of Optometry Career Development Award.

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Authors and Affiliations

  1. The Ohio State University College of Optometry, 338 West 10th Avenue, Columbus, OH, 43210, USA

    Jonelle Knapp, Dean A. VanNasdale & Keith Ramsey

  2. Department of Ophthalmology, Nationwide Children’s Hospital, 555 South 18th Street, Suite D, Columbus, OH, 43205, USA

    Julie Racine

Authors
  1. Jonelle Knapp
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  2. Dean A. VanNasdale
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  3. Keith Ramsey
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  4. Julie Racine
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Corresponding author

Correspondence to Jonelle Knapp.

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Conflict of interest

The authors declare that they have no conflict of interest.

Statement of human rights

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all participants in this study. Additional informed consent was obtained from the participant for whom identifying information is included in this article and he consented to the submission of this case report to the journal.

Statement on the welfare of animals

There were no tests on animals in this case report.

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Knapp, J., VanNasdale, D.A., Ramsey, K. et al. Retinal dysfunction in a presymptomatic patient with Huntington’s disease. Doc Ophthalmol 136, 213–221 (2018). https://doi.org/10.1007/s10633-018-9632-3

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  • DOI: https://doi.org/10.1007/s10633-018-9632-3

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