July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ): Baseline retinal characteristics
Author Affiliations & Notes
  • Hannah M Kersten
    School of Optometry and Vision Science , University of Auckland, Auckland , Auckland, New Zealand
  • Brigid Ryan
    Centre for Brain Research, University of Auckland, Auckland, New Zealand
    Brain Research New Zealand, Rangahau Roro Aotearoa, New Zealand
  • Kiri L Brickell
    Centre for Brain Research, University of Auckland, Auckland, New Zealand
    Brain Research New Zealand, Rangahau Roro Aotearoa, New Zealand
  • Christina Ilse
    Centre for Brain Research, University of Auckland, Auckland, New Zealand
    Brain Research New Zealand, Rangahau Roro Aotearoa, New Zealand
  • Ehsan Vaghefi
    School of Optometry and Vision Science , University of Auckland, Auckland , Auckland, New Zealand
  • Donna Rose Addis
    Rotman Research Institute, Baycrest Health Sciences, Toronto, Ontario, Canada
    Centre for Brain Research, University of Auckland, Auckland, New Zealand
  • Lynette Tippett
    Centre for Brain Research, University of Auckland, Auckland, New Zealand
    Brain Research New Zealand, Rangahau Roro Aotearoa, New Zealand
  • Maurice Curtis
    Centre for Brain Research, University of Auckland, Auckland, New Zealand
    Brain Research New Zealand, Rangahau Roro Aotearoa, New Zealand
  • Helen Danesh-Meyer
    Department of Ophthalmology, University of Auckland, Auckland, New Zealand
  • Footnotes
    Commercial Relationships   Hannah Kersten, None; Brigid Ryan, None; Kiri Brickell, None; Christina Ilse, None; Ehsan Vaghefi, None; Donna Rose Addis, None; Lynette Tippett, None; Maurice Curtis, None; Helen Danesh-Meyer, None
  • Footnotes
    Support  University of Auckland FRDF New Staff Grant, Auckland Medical Research Foundation Grant, Health Research Council of New Zealand Project Grant
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 2292. doi:
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      Hannah M Kersten, Brigid Ryan, Kiri L Brickell, Christina Ilse, Ehsan Vaghefi, Donna Rose Addis, Lynette Tippett, Maurice Curtis, Helen Danesh-Meyer; The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ): Baseline retinal characteristics. Invest. Ophthalmol. Vis. Sci. 2019;60(9):2292.

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

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Abstract

Purpose : Frontotemporal dementia (FTD) is a leading cause of early-onset dementia. It is crucial to identify individuals who are in the pre-symptomatic stages of FTD, particularly with the advent of therapeutic agents for neurodegenerative disorders. Previous reports have detailed retinal layer thinning in patients with sporadic FTD, and pre-symptomatic individuals with FTD caused by progranulin mutations. The New Zealand Genetic FTD Study (FTDGeNZ) is a prospective, longitudinal study that aims to identify pre-clinical biomarkers of FTD, including retinal markers, in a large New Zealand family cohort with an autosomal dominant tau mutation that is known to cause FTD (MAPT IVS 10+16 C>T).

Methods : All participants (carriers and non-carriers) completed a comprehensive neuro-ophthalmic examination, including fundus auto-fluorescence, spectral domain optical coherence tomography (OCT) of the peripapillary retinal nerve fibre layer (RNFL) and macula, and OCT angiography (OCT-A) of the superficial retinal vessels, with the examiner masked to the gene status of participants. One eye of each participant was included in between-group analysis and age-matched paired analysis (1:1 ratio).

Results : Twenty-five members of the family cohort enrolled in the study, including 6 carriers of the genetic mutation (mean age 41.2 ± 12.0 years), and 19 non-carriers (41.3 ± 14.3 years). The two groups had similar baseline ocular and refractive characteristics. There was no statistically significant difference (p > 0.05) between carriers and non-carriers for average RNFL thickness (100.2 ± 8.1 µm vs. 94.6 ± 6.1 µm), average ganglion cell complex thickness (85.6 ± 2.8 µm vs. 82.9 ± 5.6 µm), macular vessel density (18.13 ± 0.52 mm/mm2 vs. 18.02 ± 0.89 mm/mm2) or macular perfusion (44.75 ± 1.07% vs. 44.11 ± 1.88%). Additionally, after accounting for multiple comparisons, there were no significant differences in peripapillary or macular sector results for both OCT and OCT-A. These findings were consistent across age-matched paired analysis.

Conclusions : This is the first study to report OCT and OCT-A findings in a pre-symptomatic cohort with a tau mutation. No significant differences were identified in OCT or OCT-A measurements between carriers and non-carriers at baseline. Longitudinal, within-subject analysis of this cohort will determine the role of OCT/OCT-A assessment as a potential biomarker of pre-symptomatic FTD.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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