# Eye manifestations in Huntington’s disease: an update on the potential of ocular biomarkers

**Authors:** William A. Woods, Roger A. Barker

PMC · DOI: 10.1007/s00415-025-13600-4 · Journal of Neurology · 2026-01-08

## TL;DR

This review explores how eye-related changes might serve as biomarkers for Huntington’s disease, but their usefulness is still uncertain.

## Contribution

The paper systematically evaluates ocular abnormalities as potential biomarkers for Huntington’s disease.

## Key findings

- Ocular abnormalities can be identified in Huntington’s disease patients.
- The clinical utility of these ocular biomarkers remains unclear.
- Longitudinal studies in large gene-positive cohorts are needed for further evaluation.

## Abstract

Huntington’s disease (HD) remains a devastating neurodegenerative disorder caused by CAG repeat expansion in the HTT gene. Biomarkers are urgently needed to facilitate more accurate evaluation of disease onset, progression, and response to interventions. Characteristic clinical features of the disease are secondary to neuronal dysfunction, and the eye provides a potential window to characterize these changes. In this review, we systematically evaluate clinical studies examining ocular abnormalities in HD, including oculomotor function and retinal anatomy assessed by optical coherence tomography. Findings indicate that while ocular abnormalities can be identified in HD, their clinical utility remains unclear. Further evaluation in large cohorts of gene-positive individuals followed longitudinally is required.

## Linked entities

- **Genes:** HTT (huntingtin) [NCBI Gene 3064]
- **Diseases:** Huntington’s disease (MONDO:0007739)

## Full-text entities

- **Genes:** HTT (huntingtin) [NCBI Gene 3064] {aka HD, IT15, LOMARS}
- **Diseases:** HD (MESH:D006816), neurodegenerative disorder (MESH:D019636), neuronal dysfunction (MESH:D009461), ocular abnormalities (MESH:D005124)

## Full text

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## Figures

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## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC12783263/full.md

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Source: https://tomesphere.com/paper/PMC12783263