June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Outer retinal microcavitations: an OCT finding in RP1-associated retinitis pigmentosa
Author Affiliations & Notes
  • Ioannis Dimopoulos
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Laryssa Huryn
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Catherine A Cukras
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Brian Patrick Brooks
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Robert B. Hufnagel
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Aime Agather
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Delphine Blain
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Wadih M Zein
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Footnotes
    Commercial Relationships   Ioannis Dimopoulos None; Laryssa Huryn None; Catherine Cukras None; Brian Brooks None; Robert Hufnagel None; Aime Agather None; Delphine Blain None; Wadih Zein None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 3422. doi:
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    • Get Citation

      Ioannis Dimopoulos, Laryssa Huryn, Catherine A Cukras, Brian Patrick Brooks, Robert B. Hufnagel, Aime Agather, Delphine Blain, Wadih M Zein; Outer retinal microcavitations: an OCT finding in RP1-associated retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 2023;64(8):3422.

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

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Abstract

Purpose : To describe a novel OCT finding of outer retina microcavitations in a cohort of patients with retinitis pigmentosa (RP) associated with RP1 mutations.

Methods : Medical charts and SD-OCT images of 29 patients with a clinical diagnosis of RP and at least one pathogenic variant in RP1 were reviewed. Outer retina microcavitations were defined as at least 30μm diameter hyporeflective structures on OCT between the ellipsoid zone (EZ) and retinal pigment epithelium (RPE). En-face OCT images were constructed to better delineate microcavitations within a 6mm x 6mm macular region (Zeiss HD-OCT 5000). Patients with no preserved EZ in the macular region or macular edema were excluded. Presence or absence of outer retinal microcavitations was correlated with: (i) best-corrected visual acuity (BCVA) and color discrimination errors on Farnsworth–Munsell D-15 test; and (ii) structural measures on OCT, including central subfield (CSF) thickness, average macular thickness (AMT) and maintained EZ band width. Mann-Whitney two-tailed tests were used for comparisons. Significance was set at P<0.05.

Results : Thirteen patients were excluded due to advanced degeneration with no preserved EZ in the macular region. Among included patients, 10/16 showed outer retinal OCT microcavitations in at least one eye, with biallelic pathogenic RP1 variants present in 4/10. Age at first examination was not significantly different between the two groups (47.5 vs. 49 years of age; p=0.78). Outer retinal OCT microcavitations were associated with worse BCVA (0.20 vs. 0 logMAR; p<0.001) and increased errors on D-15 testing (6 vs. 0 errors; p=0.02). Both CSF thickness (237 vs. 293 μm; p<0.001) and AMT (232 vs. 270μm; p=0.02) were significantly reduced in eyes with outer retinal microcavitations. Shorter EZ widths (1.65mm vs. 4.88mm; p<0.001) were measured in patients with outer retinal microcavitations, independent of the number of RP1 variants present (1.44 vs. 2.06mm if bi-/mono-allelic, respectively; p=0.20).

Conclusions : A novel OCT finding of microcavitations in the outer retina was observed in patients with RP associated with RP1 mutations. Presence of microcavitations correlated with worse visual function and central retinal structure in this cohort of patients. Although likely not specific to RP1-related disease, these structures can be associated with early macular involvement in RP and reflect greater disease severity.

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

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