June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
A natural history study of functional and structural outcome measures in PRPH2-associated retinal dystrophy
Author Affiliations & Notes
  • Rachael C Heath Jeffery
    Lions Eye Institute, Nedlands, Western Australia, Australia
  • Jennifer A. Thompson
    Lions Eye Institute, Nedlands, Western Australia, Australia
  • Ian Constable
    Lions Eye Institute, Nedlands, Western Australia, Australia
  • Ian McAllister
    Lions Eye Institute, Nedlands, Western Australia, Australia
  • Terri L. McLaren
    Lions Eye Institute, Nedlands, Western Australia, Australia
  • John N. De Roach
    Lions Eye Institute, Nedlands, Western Australia, Australia
  • Tina M. Lamey
    Lions Eye Institute, Nedlands, Western Australia, Australia
  • Fred Kuanfu Chen
    Lions Eye Institute, Nedlands, Western Australia, Australia
  • Footnotes
    Commercial Relationships   Rachael Heath Jeffery None; Jennifer Thompson None; Ian Constable None; Ian McAllister None; Terri McLaren None; John De Roach None; Tina Lamey None; Fred Chen None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 500 – A0077. doi:
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      Rachael C Heath Jeffery, Jennifer A. Thompson, Ian Constable, Ian McAllister, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Fred Kuanfu Chen; A natural history study of functional and structural outcome measures in PRPH2-associated retinal dystrophy. Invest. Ophthalmol. Vis. Sci. 2022;63(7):500 – A0077.

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

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Abstract

Purpose : Progression rates of PRPH2-associated retinal dystrophy have not been described. We used structural and functional outcome measures to establish disease progression rates in best-corrected visual acuity (BCVA), total lesion size (TLS), dark autofluorescence (DAF) area, total macular volume (TMV) and mean macular sensitivity (MMS).

Methods : In this retrospective case series, patients with confirmed heterozygous pathogenic PRPH2 variants, 6 monthly serial BCVA, ultra-widefield (UWF) fundus autofluorescence (FAF), optical coherence tomography and MAIA microperimetry with at least 1 year of follow up were included. Linear regression was performed for each eye of each subject to determine the rate of change. Changes in TMV and MMS were compared to a cohort of normal controls.

Results : A total of 12 patients (mean baseline age=55, F:M=4:8) from 10 unrelated families were followed for a mean (SD, range) of 4.7 (2.1, 1.0-8.5) years. The overall mean (SD) BCVA decline was 0.91 (1.86, OD) and 2.93 (5.34, OS) letters/year with no significant interocular difference (p=0.28). Mean (SD) effective radius expansion rates in TLS and DAF were 0.16 (0.13) and 0.10 (0.08) mm/year and 0.15 (0.14) and 0.11 (0.05) mm/year in OD and OS respectively. Mean (SD) TMV decline was 0.079 (0.053, OD) and 0.071 (0.047, OS) mm3/year with no significant interocular difference (p=0.25). Healthy controls (N=42, mean age=51) showed a mean decline of 0.006 mm3/year. Overall MMS change was +0.38 (OD) and -0.72 (OS) dB/year. Four patients showed a bilateral MSS decline of 1.90 (OD) and 1.31 (OS) dB/year. Five patients showed a bilateral MSS increase of 0.61 (OD) and 0.49 (OS) dB/year attributed to learning effects. Healthy controls (N=41, mean age=51) showed a mean (SD) MSS decline of 0.02 dB/year.

Conclusions : Patients with PRPH2-associated retinal dystrophy showed slow expansion rates in UWF-FAF derived TLS and DAF area. OCT-derived TMV may serve as an important quantitative outcome measure for future therapeutic clinical trials. Functional outcome measures however warrant further investigation given their large variability and significant learning effects.

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

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