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Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease

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Abstract

Purpose

This study aimed to explore the ocular characteristics of neuronal intranuclear inclusion disease (NIID), caused by GGC repeat expansion in the NOTCH2NLC gene, combined with the systemic clinical manifestations, and propose early diagnostic features of NIID.

Methods

Six patients (12 eyes) were enrolled in this study. In vivo corneal confocal microscopy (IVCCM), fundus photography, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), full-field electroretinography (ERG), and electromyography were performed.

Results

The average corneal nerve fiber density (CNFD) was 6.83 ± 4.96 number/mm2, and the corneal nerve fiber length (CNFL) was 6.76 ± 1.96 mm/mm2. The nerves were looser and more curved in affected individuals. Dendritic cells were observed in patients with NIID. Chorioretinal atrophy, hyper-AF spots, and outer retinal abnormalities were observed during FAF imaging and OCT examinations. In full-field ERGs, the amplitudes of the a-wave and b-wave reduced or extinguished over time. The compound muscle action potential and motor nerve conduction velocity of the left common peroneal nerve decreased substantially.

Conclusion

The findings of IVCCM and retinal changes should be included in the diagnostic criteria for NIID. Corneal confocal characteristics may precede the systemic neurological manifestations and provide a clinical basis for the early treatment and staging of the disease.

ClincalTrials.gov. Identifier: ChiCTR21000500227.

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Data availability

All data generated or analysed during this study are included in this submitted article.

Code availability

All code generated or used during the study appear in the submitted article.

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Funding

This work is supported by the National Natural Science Foundation of China (grant no. 81973910) (China) and the Clinical Study of Shanghai Municipal Health Commission (grant no. 20194Y0290) (China). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Xuhui District, 600 Yishan Road, Shanghai, 200233, China

    Chang Liu, Xiaohong Liu, Xiangning Wang, Xuan Cai, Tingting Li & Da Long

  2. Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Xuhui District, 600 Yishan Road, Shanghai, 200233, China

    Xinghua Luan & Li Cao

Authors
  1. Chang Liu
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  2. Xinghua Luan
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  3. Xiaohong Liu
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  4. Xiangning Wang
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  5. Xuan Cai
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  6. Tingting Li
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  7. Li Cao
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  8. Da Long
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Contributions

Li Cao and Da Long contributed to the conception of the study; Chang Liu and Xinghua Luan performed the experiment and wrote the manuscript; Xiaohong Liu and Xiangning Wang contributed significantly to analysis and manuscript preparation; Tingting Li performed the data analyses; Xuan Cai helped perform the analysis with constructive discussions.

Corresponding author

Correspondence to Da Long.

Ethics declarations

Ethics approval

This study was approved by the Ethical Committee of Shanghai Jiao Tong University Affiliated Sixth People’s Hospital (no. 2021-KY-041(K)). The study was conducted in accordance with the tenets of the Declaration of Helsinki.

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Every participant have signed an informed consent form.

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Not applicable.

Competing interests

The authors declare no competing interests.

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Chang Liu and Xinghua Luan contributed equally to this work.

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Cite this article

Liu, C., Luan, X., Liu, X. et al. Characteristics of ocular findings of patients with neuronal intranuclear inclusion disease. Neurol Sci 43, 3231–3237 (2022). https://doi.org/10.1007/s10072-021-05748-4

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  • DOI: https://doi.org/10.1007/s10072-021-05748-4

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