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MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis

  • Neurophthalmology
  • Published:
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Abstract

Purpose

To investigate the alterations in extraocular muscles (EOMs) by magnetic resonance imaging (MRI) among patients diagnosed with Duane retraction yndrome (DRS) and congenital fibrosis of the extraocular muscles (CFEOM), who present with various cranial nerve anomalies in an attempt to enhance the clinical diagnostic process.

Methods

A case–control study was conducted to evaluate 27 patients with DRS and 14 patients with CFEOM. All patients underwent MRI scans of the brainstem and orbital examination. Neurodevelopmental assessments were conducted through MRI, and maximum cross-sectional area and volumes of EOMs were obtained. Three types of models were constructed using machine learning decision tree algorithms based on EOMs to predict disease diagnosis, cranial nerve abnormalities, and clinical subtypes.

Results

Patients with bilateral CN VI abnormalities had smaller volumes of LR, MR, and IR muscles compared to those with unilateral involvement (P < 0.05). Similarly, patients with CFEOM and unilateral third cranial nerve abnormalities had a smaller maximum cross-section of the affected eye's SR compared to the contralateral eye (P < 0.05). In patients with both CN III and CN VI abnormalities, the volume of SR was smaller than in patients with CN III abnormalities alone (P < 0.05). The prediction model using EOMs volume showed a diagnostic precision of 82.5% for clinical cases and 60.1% for predicting cranial nerve abnormalities. Nonetheless, the precision for identifying clinical subtypes was relatively modest, at only 41.7%.

Conclusion

The distinctive volumetric alterations in EOMs among individuals exhibiting distinct cranial nerve anomalies associated with DRS or CFEOM provide valuable diagnostic insights into to Congenital Cranial Neurodevelopmental Disorders (CCDDs). MRI analysis of EOMs should thus be regarded as a crucial diagnostic modality.

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Data availability

All data involved in this study can be obtained by contacting the corresponding author.

Abbreviations

MRI:

Magnetic resonance imaging

EOMs:

Extraocular muscles

CN:

Cranial nerve

DRS:

Duane's Retraction Syndrome

CFEOM:

Congenital fibrosis of the extraocular muscles

LR:

Lateral rectus

MR:

Medial rectus

IR:

Inferior rectus

SR:

Superior rectus

SO:

Superior oblique

CN VI:

The sixth cranial nerve

CN III:

The third cranial nerve

CCDDs:

Congenital cranial dysinnervation disorders

MbS:

Moebius syndrome

HGPPS:

Horizontal gaze palsy with progressive scoliosis

BSAS/ABDS:

Bosley-Salih-Alorainy syndrome/ Athabaskan brainstem dysgenesis syndrome

PCTD:

Pontine cap tegmental dysplasia

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Acknowledgements

None.

Funding

This study was supported by Tianjin Municipal Science and Technology Commission | Tianjin Research Program of Application Foundation 22JCZDJC00160 (W.Z.); Nankai University Eye Institute NKYKD202202 (W.Z.); General Project of Tianjin Health Science and Technology Fund Grant TJWJ2021MS041 (R.H.); Tianjin key Medical Discipline (Specialty) Construction Project Grant TJYXZDXK-016A (R.H.)

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Authors and Affiliations

  1. Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China

    Tiantian Yang, Kailei Wang, Rui Hao & Wei Zhang

  2. Nankai University Affiliated Tianjin Eye Hospital, Tianjin, China

    Xiaotong Li, Rui Hao & Wei Zhang

  3. Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Hospital, Tianjin Eye Institute, No. 4, Gansu Road, Heping District, Tianjin, 300022, China

    Tiantian Yang, Xiaotong Li, Kailei Wang, Rui Hao & Wei Zhang

  4. Department of Radiology, Characteristic Medical Center of Chinese People’s Armed Police Force, Tianjin, China

    Quan Zhang

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Contributions

Tiantian Yang participated in writing and revising the manuscript. Xiaotong Li participated in analysis and interpretation of data, and writing the manuscript. Rui Hao participated in conceptualization, drafting. Kailei Wang and Quan Zhang participated in analysis of image pictures. Wei Zhang participated in conceptualization and study design. All authors have approved the fnal submitted version and have agreed to be personally accountable for each contribution.

Corresponding authors

Correspondence to Rui Hao or Wei Zhang.

Ethics declarations

Ethics approval and consent to participate

The study was conducted in accordance with the Declaration of Helsinki and was approved by the institutional review board of the Tianjin Eye Hospital (IRB No.2022067).

Consent for publication

The informed consent from patients was waived by the IRB because this study was based on the retrospective chart review and involves no more than minimal risk.

Competing interests

No conflicting relationship exists for any author.

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Tiantian Yang and Xiaotong Li are co-first authors.

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Yang, T., Li, X., Wang, K. et al. MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis. Graefes Arch Clin Exp Ophthalmol (2024). https://doi.org/10.1007/s00417-024-06454-5

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  • DOI: https://doi.org/10.1007/s00417-024-06454-5

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