June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Localised cone density and retinal sensitivity changes in female carriers of RPGR mutations
Author Affiliations & Notes
  • Danial Roshandel
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
  • Tina M. Lamey
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia, Australia
  • Jason Charng
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
  • Rachael C Heath Jeffery
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
  • Terri L. McLaren
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia, Australia
  • Jennifer A. Thompson
    Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia, Australia
  • John N. De Roach
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Western Australia, Australia
  • Samuel McLenachan
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
  • David A. Mackey
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
  • Fred Kuanfu Chen
    Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
    Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia
  • Footnotes
    Commercial Relationships   Danial Roshandel None; Tina Lamey None; Jason Charng None; Rachael Heath Jeffery None; Terri McLaren None; Jennifer Thompson None; John De Roach None; Samuel McLenachan None; David Mackey None; Fred Chen None
  • Footnotes
    Support  Australian National Health and Medical Research Council Grant GNT116360, GNT1188694, GNT1054712 and MRF1142962; McCusker Charitable Foundation; Retina Australia; Miocevich Retina Fellowship; and the Australian Government Research Training Program Scholarship at The University of Western Australia
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 4478 – F0265. doi:
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    • Get Citation

      Danial Roshandel, Tina M. Lamey, Jason Charng, Rachael C Heath Jeffery, Terri L. McLaren, Jennifer A. Thompson, John N. De Roach, Samuel McLenachan, David A. Mackey, Fred Kuanfu Chen; Localised cone density and retinal sensitivity changes in female carriers of RPGR mutations. Invest. Ophthalmol. Vis. Sci. 2022;63(7):4478 – F0265.

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

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Abstract

Purpose : Heterozygous RPGR mutations may cause progressive photoreceptor degeneration in female carriers. In this single-center, retrospective, observational study, we assessed retinal structure and function in female carriers of RPGR mutations.

Methods : Adaptive optics (AO) imaging and microperimetry (MAIA) were performed in female carriers of RPGR mutations. Cone density (CD) at 1.4° (4 loci/eye) and 3.2° (8 loci/eye) from the foveal center, and point-wise sensitivity (PWS) at 68 loci spanning central 20° (the 10-2 test grid) were analysed (Figure 1). Normality of measured values was defined against 10 (AO cohort) and 25 (MAIA cohort) age-matched healthy controls: normal < 1 SD, moderate defect 1–2 SD and severe defect > 2 SD from the normal average.

Results : AO and MAIA data were available in 8 and 12 patients, respectively. CD at 1.4° and 3.2° eccentricities showed severe defect in at least 2 locations in 4/8 and 5/8 patients, respectively (overall 38 locations at both eccentricities across the cohort). Severe PWS defect at 1.4° and 3.2° eccentricities was observed in at least 2 locations in 3/12 and 4/12 patients, respectively. Overall, PWS was normal in 25/38 (66%) loci with severe CD defect within the central 3.2° across the cohort (Figure 2). In addition, PWS showed at least moderate defect in ≥ 10/68 loci in 9/12 patients.

Conclusions : AO imaging and microperimetry detected localised defects in cone mosaic and retinal sensitivity in RPGR mutation carriers. Severe cone loss in locations with normal PWS in the parafoveal region suggests that structural damage preceded functional loss in this cohort.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

 

Figure 1. Locations of cone density (CD) and pointwise sensitivity (PWS) measurements. Solid circles show the locations of MAIA 10-2 grid (N = 68 locations). CD measurement was performed on solid points located within the dotted area. Horizontal and vertical axes show the distance to foveal center (for CD) or preferred retinal locus (for PWS) in degree units. The circle located at the center represents 0, 0 coordinate.

Figure 1. Locations of cone density (CD) and pointwise sensitivity (PWS) measurements. Solid circles show the locations of MAIA 10-2 grid (N = 68 locations). CD measurement was performed on solid points located within the dotted area. Horizontal and vertical axes show the distance to foveal center (for CD) or preferred retinal locus (for PWS) in degree units. The circle located at the center represents 0, 0 coordinate.

 

Figure 2. Pointwise sensitivity (PWS) map (A, E), cone density (CD) map (B, F), PWS deviation map (C, G) and CD deviation map (D, H) in a 36 y/o (A-D) and a 26 y/o (E-H) patient. Deviation maps were calculated based on average and standard deviation (SD) in age-matched healthy controls. Severe CD defect (D) despite normal PWS (C) was noted in the parafoveal region in both patients.

Figure 2. Pointwise sensitivity (PWS) map (A, E), cone density (CD) map (B, F), PWS deviation map (C, G) and CD deviation map (D, H) in a 36 y/o (A-D) and a 26 y/o (E-H) patient. Deviation maps were calculated based on average and standard deviation (SD) in age-matched healthy controls. Severe CD defect (D) despite normal PWS (C) was noted in the parafoveal region in both patients.

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