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Longitudinal changes in the macula and optic nerve in familial dysautonomia

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A Correction to this article was published on 02 January 2021

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Abstract

Objective

Familial Dysautonomia (FD) disease, lacks a useful biomarker for clinical monitoring. In this longitudinal study we characterized the structural changes in the macula, peripapillary and the optic nerve head (ONH) regions in subjects with FD.

Methods

Data was consecutively collected from subjects attending the FD clinic between 2012 and 2019. All subjects were imaged with spectral-domain Optical Coherence Tomography (OCT). Global and sectoral measurements of mean retinal nerve fiber layer (RNFL) and macular ganglion cell and inner plexiform layer (GCIPL) thickness, and ONH parameters of rim area, average cup-to-disc (C:D) ratio, and cup volume were used for the analysis. The best fit models (linear, quadratic and broken stick linear model) were used to describe the longitudinal change in each of the parameters.

Results

91 subjects (149 eyes) with FD of ages 5–56 years were included in the analysis. The rate of change for average RNFL and average GCIPL thicknesses were significant before reaching a plateau at the age of 26.2 for RNFL and 24.8 for GCIPL (− 0.861 µm/year (95% CI − 1.026, − 0.693) and − 0.553 µm/year (95% CI − 0.645, − 0.461), respectively). Significant linear rate of progression was noted for all ONH parameters, except for a subset of subjects (24%), with no cupping that did not show progression in any of the ONH parameters.

Conclusions

The rapidly declining RNFL and GCIPL can explain the progressive visual impairment previously reported in these subjects. Among all structural parameters, ONH parameters might be most suitable for longitudinal follow-up, in eyes with a measurable cup.

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Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Code availability

Not availanble.

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Funding

NIH R01-EY013178, a grant from the Familial Dysautonomia Foundation, and unrestricted grant from Research to Prevent Blindness. The sponsor or funding organization had no role in the design or conduct of this research.

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Authors and Affiliations

  1. Department of Ophthalmology, NYU Langone Health, 222 East 41 St., New York, NY, 10017, USA

    Jonathan Kfir, Mengfei Wu, Mengling Liu, Leela Raju, Joel S. Schuman, Hiroshi Ishikawa & Gadi Wollstein

  2. Department of Population Health, NYU Langone Health, New York, NY, USA

    Mengfei Wu & Mengling Liu

  3. Department of Environmental Medicine, NYU Langone Health, New York, NY, USA

    Mengling Liu

  4. Center for Neural Science, NYU, New York, NY, USA

    Joel S. Schuman & Gadi Wollstein

  5. Department of Biomedical Engineering, NYU Tandon School of Engineering, New York, NY, USA

    Joel S. Schuman, Hiroshi Ishikawa & Gadi Wollstein

  6. Department of Neurology, NYU Langone Health, New York, NY, USA

    Isabel M. Vanegas, Carlos E. Mendoza-Santiesteban, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Barr Morgenstein & Horacio Kaufmann

  7. Bascom Palmer Eye Institute, University of Miami, Miami, FL, USA

    Carlos E. Mendoza-Santiesteban

Authors
  1. Jonathan Kfir
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  2. Mengfei Wu
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  3. Mengling Liu
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  4. Leela Raju
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  7. Isabel M. Vanegas
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  11. Barr Morgenstein
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Contributions

Conceptualization: HK; methodology: LN-K and HK; formal analysis and investigation: JK, MW, ML, and GW; writing—original draft preparation: JK and GW; writing—review and editing: LR, JSS, HI, IMV, CM-S, JAP, LN-K, BM, and HK; funding acquisition: JSS and HK.

Corresponding author

Correspondence to Joel S. Schuman.

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Conflicts of interest

Joel S. Schuman: Royalties from intellectual property licensed by Massachusetts institute of Technology and Massachusetts Eye and Ear infirmary to Zeiss. None of the other authors have any conflict of interest to declare.

Ethics approval

The institutional review board and ethics committee at NYU Langone Health approved the study. The study has been performed in accordance with the ethical standards laid down in the Declaration of Helsinki. Enrollment was voluntary and a written informed consent was obtained from all subjects or their legal proxy.

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Kfir, J., Wu, M., Liu, M. et al. Longitudinal changes in the macula and optic nerve in familial dysautonomia. J Neurol 268, 1402–1409 (2021). https://doi.org/10.1007/s00415-020-10298-4

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  • DOI: https://doi.org/10.1007/s00415-020-10298-4

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