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Peripapillary and macular morpho-vascular changes in patients with genetic or clinical diagnosis of autosomal dominant optic atrophy: a case-control study

  • Neuroophthalmology
  • Published:
Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

To evaluate the macular and peripapillary morpho-vascular changes in ADOA, using optical coherence tomography (OCT) and OCT angiography (OCTA).

Methods

Prospectively defined, cross-sectional case-control study. Consecutive patients with a genetic or clinical diagnosis of ADOA along with age- and sex-matched controls were included. The radial peripapillary capillary (RPC) density and vessel density (VD) in the parafoveal superficial and deep capillary plexuses (SCP and DCP, respectively) were evaluated with OCTA. The ganglion cell complex (GCC) and retinal nerve fiber layer (RNFL) thickness were determined using structural OCT. We applied a previously validated customized macro (Fiji, SciJava Consortium) to compute RPC density. The remaining parameters were calculated by the built-in software. Non-parametric methods were used for data analysis. The target α level was 0.05, which was adjusted through Bonferroni’s correction when multiple outcomes were tested.

Results

Fifty-eight eyes (n = 29 control; n = 29 ADOA) from 30 subjects (mean age 42.43 ± 15.30 years; 37.93% male) were included. Parafoveal SCP VD, GCC thickness, RPC VD in the temporal quadrant, as well as RNFL thickness in the nasal and temporal quadrants were decreased in ADOA eyes (all p < 0.001). When only patients with genetically confirmed diagnosis were included, capillary dropout in the circumpapillary superior and inferior quadrants also became evident (both p < 0.001). The GCC/parafoveal SCP ratio was increased in ADOA, relatively to matched controls. In contrast, none of the circumpapillary morpho-vascular ratios was significantly different in ADOA eyes.

Conclusions

The microvascular and structural changes found in ADOA suggest that both the macular and peripapillary regions are involved, although the threshold for damage of the structural and vascular components may be different for each region. Larger series with longitudinal follow-up may validate OCTA biomarkers helpful for disease monitoring.

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Funding

This was an academic research project, with no specific funding available.

Author information

Author notes

  1. Tiago M. Rodrigues

    Present address: Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland

  2. Michael-John Dolan

    Present address: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA

Authors and Affiliations

  1. Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3049, Coimbra, Portugal

    Amélia Martins, Tiago M. Rodrigues, Mário Soares, Joaquim N. Murta, Rufino Silva & João P. Marques

  2. Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa (FMUL), Lisbon, Portugal

    Tiago M. Rodrigues

  3. Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, VA, 20147, USA

    Michael-John Dolan

  4. Coimbra Institute for Clinical and Biomedical Research, Faculty of Medicine, University of Coimbra (iCBR-FMUC), Coimbra, Portugal

    Joaquim N. Murta, Rufino Silva & João P. Marques

  5. Association for Innovation and Biomedical Research on Light and Imaging (AIBILI), Coimbra, Portugal

    Rufino Silva & João P. Marques

Authors
  1. Amélia Martins
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Corresponding author

Correspondence to Amélia Martins.

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Conflict of interest

J.P.M. performs consulting services for Bayer. J.N.M. is a member of the scientific Advisory Board of Alcon. R.S. is a member of the Advisory Board for Bayer, Allergan, Novartis, Alcon, THEA and Alimera. The remaining authors have no conflict of interest to disclose. None of the authors has any financial or non-financial interest in the subject matter or materials discussed in this manuscript.

Ethical approval

All procedures performed in this study were in accordance with the ethical standards of the 1964 Helsinki declaration and its later amendments and this research project was approved by the institutional research committee of Centro Hospitalar e Universitário de Coimbra (CHUC).

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Oral and written informed consent was obtained from all individual participants included in this study.

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Martins, A., Rodrigues, T.M., Soares, M. et al. Peripapillary and macular morpho-vascular changes in patients with genetic or clinical diagnosis of autosomal dominant optic atrophy: a case-control study. Graefes Arch Clin Exp Ophthalmol 257, 1019–1027 (2019). https://doi.org/10.1007/s00417-019-04267-5

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  • DOI: https://doi.org/10.1007/s00417-019-04267-5

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