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Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study

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Abstract

Background

Adrenoleukodystrophy (ALD) encompasses different neurological phenotypes, ranging from the most severe cerebral forms (C-ALD) to the less severe adrenomyeloneuropathy (AMN). As visual system can be varyingly involved, we aimed at exploring whether optical coherence tomography (OCT) may detect retinal abnormalities and their longitudinal changes in adult ALD patients.

Methods

In this cross-sectional and longitudinal study, we measured the thicknesses of peripapillary retinal nerve fiber layer (pRNFL), macular ganglion cell complex (mGCC), and segmented inner and outer macula at baseline and their changes over time in 11 symptomatic adult ALD males and 10 age- and sex-matched healthy controls. Statistical analyses were performed for the patients as complete group, and splitting them into two subgroups, one (C-ALD) with and the other (AMN) without cerebral parieto-occipital white matter (WM) lesions.

Results

In the complete ALD group and in the C-ALD subgroup, the average pRNFL, mGCC, and inner macula were significantly thinner than in controls (p ≤ 0.01), whereas in the AMN subgroup, they were constantly, though non-significantly, thinner. Significant outer macula thinning was also observed (p < 0.01). In the complete ALD group, follow-up assessment (mean 26.8 months, range 8–48) showed mildly progressive thinning of inferior pRNFL, average mGCC, and inner macula.

Conclusions

In adult ALD patients, OCT can reveal retinal abnormalities which are prominent in the more compromised patients, namely those with parieto-occipital WM lesions. The inferior pRNFL, average mGCC and inner macula thicknesses might be sensitive-to-change OCT parameters, but their utility and consistency for short-term longitudinal studies deserve further investigations.

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Funding

This study was partially funded by the Italian Ministry of Health (Current Research Funds and grant RF-2016-02361285).

Author information

Author notes

  1. Stefania Bianchi-Marzoli and Silvia Fenu contributed equally to this work.

Authors and Affiliations

  1. Neuro-ophthalmology Center and Ocular Electrophysiology Laboratory, Istituto Auxologico Italiano IRCCS Capitanio Hospital, Milan, Italy

    Stefania Bianchi-Marzoli, Lisa Melzi & Gemma Tremolada

  2. Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy

    Silvia Fenu, Chiara Benzoni, Elena Mauro, Davide Pareyson & Ettore Salsano

  3. Centre Inria Lille – Nord Europe, Villeneuve d’Ascq, France

    Filippo Antonazzo

  4. Unit of Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

    Eugenia Tomas Roldan

  5. Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

    Laura Farina

  6. Neuroimaging Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy

    Laura Farina

  7. Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

    Viviana Pensato & Cinzia Gellera

  8. Neuroscience PhD Program, University of Milano-Bicocca, Monza, Italy

    Ettore Salsano

Authors
  1. Stefania Bianchi-Marzoli
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  2. Silvia Fenu
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  3. Lisa Melzi
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  4. Chiara Benzoni
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  5. Filippo Antonazzo
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  6. Eugenia Tomas Roldan
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  7. Laura Farina
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  8. Gemma Tremolada
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  9. Elena Mauro
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  10. Viviana Pensato
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  11. Cinzia Gellera
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  12. Davide Pareyson
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  13. Ettore Salsano
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Corresponding author

Correspondence to Ettore Salsano.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

This study was performed as per local ethics committee-approved guidelines in accordance with the Declaration of Helsinki principles, and all the involved patients gave their written informed consent..

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Bianchi-Marzoli, S., Fenu, S., Melzi, L. et al. Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study. Neurol Sci 42, 235–241 (2021). https://doi.org/10.1007/s10072-020-04576-2

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  • DOI: https://doi.org/10.1007/s10072-020-04576-2

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