June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Correlation of hyperautofluorescent ring with outer retinal anatomy in rod-cone dystrophy
Author Affiliations & Notes
  • Salwah Rehman
    Oxford Eye Hospital, Oxford, Oxfordshire, United Kingdom
    University of Oxford Nuffield Laboratory of Ophthalmology, Oxford, Oxfordshire, United Kingdom
  • Robert E MacLaren
    Oxford Eye Hospital, Oxford, Oxfordshire, United Kingdom
    University of Oxford Nuffield Laboratory of Ophthalmology, Oxford, Oxfordshire, United Kingdom
  • Footnotes
    Commercial Relationships   Salwah Rehman None; Robert MacLaren None
  • Footnotes
    Support  NIHR Oxford Biomedical Research Centre
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 615 – A0330. doi:
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    • Get Citation

      Salwah Rehman, Robert E MacLaren; Correlation of hyperautofluorescent ring with outer retinal anatomy in rod-cone dystrophy. Invest. Ophthalmol. Vis. Sci. 2022;63(7):615 – A0330.

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

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Abstract

Purpose : Rod cone dystrophies typically result in progressive concentric loss of visual field which correlates closely to the photoreceptor degeneration as it progresses from the periphery. A recent study noted that photoreceptors at the edge of the degeneration may regrow outer segment processes following successful gene therapy, resulting in some reversal of field loss (Cehajic-Kapetanovic et al., 2020). Within this zone, photoreceptors exist in the outer nuclear layer but without defined inner or outer segment processes. On imaging with fundus autofluorescence (FAF), this zone of partially degenerate photoreceptors can be identified by a fluorescent ring. We, therefore, explored this ring sign further in order to understand its anatomical relationship to outer retinal degeneration.

Methods : We identified 59 patients who had rod-cone dystrophy and fluorescent rings on FAF retrospectively from our clinical database and categorised the rings according to disease progression. The images were analysed using measurements of horizontal fluorescent ring radius from fovea along with ellipsoid zone (EZ) and external limiting membrane (ELM) line width from spectral domain optical coherence tomography (OCT).

Results : The majority of patients had mutations in RPGR (18) or USH2A (18) and the remainder had identified mutations in RHO (5), RP1 (5), SNRNP200 (4), PRPF8 (2), EYS (2), FLVCR1 (2), RP2 (1) and PRPF31 (1). Three distinct stages of ring were evident: early-stage large irregular ring involving the optic disc,10(17%), mid-stage circumferential fluorescent ring around the fovea, 19(32%), and late-stage pattern of diffuse irregular hyperautofluorescence in the central macula, 30 (51%). A high correlation between internal ring radius to EZ width (r=0.94) and external ring radius to ELM width (r=0.97) in all 29 patients with early-mid stage of disease was evident. Fluorescent ring thickness was also strongly correlated with loss of EZ on OCT (r=0.92) in these patients.

Conclusions : Our results suggest that patients with rod-cone dystrophy may exhibit a pattern of fluorescent rings on FAF. Early and mid-stage rings correlated with inner and outer segment loss and got smaller as the degeneration progressed. This may represent a useful biomarker with which to assess the progression of retinitis pigmentosa and may represent a zone in which reversal of visual field loss is most likely to be seen following gene therapy.

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

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