June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Longitudinal Analysis of Progression Biomarkers in Autosomal Dominant Optic Atrophy (ADOA) using SD-OCT and OCTA
Author Affiliations & Notes
  • Karsten Hufendiek
    Department of Ophthalmology, Medizinische Hochschule Hannover, Hannover, Niedersachsen, Germany
  • Laura Hoffmann
    Department of Ophthalmology, Medizinische Hochschule Hannover, Hannover, Niedersachsen, Germany
  • Bettina Hohberger
    Department of Ophthalmology, Friedrich-Alexander-Universitat Erlangen-Nurnberg, Erlangen, Bayern, Germany
  • Christian Y Mardin
    Department of Ophthalmology, Friedrich-Alexander-Universitat Erlangen-Nurnberg, Erlangen, Bayern, Germany
  • Sami Hosari
    Department of Surgery, Friedrich-Alexander-Universitat Erlangen-Nurnberg, Erlangen, Bayern, Germany
  • Mareile Wiezorrek
    Department of Ophthalmology, Medizinische Hochschule Hannover, Hannover, Niedersachsen, Germany
  • Christina Jacobsen
    Department of Ophthalmology, Medizinische Hochschule Hannover, Hannover, Niedersachsen, Germany
  • Heidi Stoehr
    Institute of Human Genetics, Universitat Regensburg, Regensburg, Bayern, Germany
  • Teresa Neuhann
    Medizinisch Genetisches Zentrum, Munchen, Bayern, Germany
  • Carsten Framme
    Department of Ophthalmology, Medizinische Hochschule Hannover, Hannover, Niedersachsen, Germany
  • Katerina Hufendiek
    Department of Ophthalmology, Medizinische Hochschule Hannover, Hannover, Niedersachsen, Germany
  • Footnotes
    Commercial Relationships   Karsten Hufendiek None; Laura Hoffmann None; Bettina Hohberger None; Christian Mardin None; Sami Hosari None; Mareile Wiezorrek None; Christina Jacobsen None; Heidi Stoehr None; Teresa Neuhann None; Carsten Framme None; Katerina Hufendiek None
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 4672. doi:
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      Karsten Hufendiek, Laura Hoffmann, Bettina Hohberger, Christian Y Mardin, Sami Hosari, Mareile Wiezorrek, Christina Jacobsen, Heidi Stoehr, Teresa Neuhann, Carsten Framme, Katerina Hufendiek; Longitudinal Analysis of Progression Biomarkers in Autosomal Dominant Optic Atrophy (ADOA) using SD-OCT and OCTA. Invest. Ophthalmol. Vis. Sci. 2023;64(8):4672.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To investigate longitudinal changes in peripapillary/macular microvasculature and retinal layer thickness in patients with ADOA using SD-OCT and OCTA and to explore a reliable disease-monitoring biomarker

Methods : Prospective study of 30 eyes with genetically confirmed diagnosis of ADOA (OPA-1 mutation) followed up for 23 months (range 5-73). Beside BCVA, OCTA and SD-OCT scans were obtained using SPECTRALIS® (Heidelberg Engineering, Germany). After autosegmentation by manual adjustment all scans were analyzed with Heidelberg Eye Explorer. OCTA images (2.9x2.9 mm) were analyzed using EA-Tool. Macular Vessel Density (MVD) was measured from Superficial Vascular Plexus (SVP), Intermediate Capillary Plexus (ICP) and Deep Capillary Plexus (DCP)) in circles (full, c1, c2, and c3). Radial peripapillary capillary (RPC) density was measured in SVP. Foveal Avascular Zone (FAZ), horizontal and vertical diameters were manually measured in SVP, ICP and DCP.

Results : FAZ enlarged over time in SVP (p<0.03) with focus on horizontal diameter (p<0.02) without significant enlargement in deep layers. Strong positive correlation of FAZ and MVD was found in SVP (|r|=0.9) at follow-up. RPC decreased over time in SVP in full radius (p<0.02) and inner circle c1 (p<0.03), predominantly in nasal segments (p<0.02). Peripapillary RNFL (pRNFL) decreased globally (p<0.02) and in the temporal sector (p<0.02). BMO-MRW decreased in both temporal and nasal segments (p<0.01). GCL reduction was found in temporal inner/outer inferior segment at follow up (p<0.04). Baseline BCVA was 0.33 (logMAR) and 0.42 at follow up (p>0.05).

Conclusions : Enlarged FAZ in SVP, positive correlation of FAZ and MVD in SVP as well as reduced RPC in SVP indicate alteration of peripapillary/macular microvasculature in the course of ADOA. Thinning of BMO-MRW was accompanied by loss of pRNFL and GCL. GCL loss in the temporal inner segment was associated with reduced MVD in the temporal sector in SVP, which might suggest increased vulnerability of macular temporal segments to subclinical damage over time. Loss of GCL, FAZ enlargement and reduced RPC could be related to the stage of disease and used as progression biomarkers. Further studies are needed to validate required visits for monitoring changes by SD-OCT and OCTA and predict the rate of disease progression in light of genotype-related variation in this mitochondrial disease.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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