June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Inflammatory Findings in Autosomal Recessive Retinitis Pigmentosa (ARRP) Associated with EYS Gene Mutations
Author Affiliations & Notes
  • Oleg Alekseev
    Ophthalmology, Duke University, Durham, North Carolina, United States
  • Grazyna Adamus
    Ophthalmology, Oregon Health & Science University Casey Eye Institute, Portland, Oregon, United States
  • Alessandro Iannaccone
    Ophthalmology, Duke University, Durham, North Carolina, United States
  • Footnotes
    Commercial Relationships   Oleg Alekseev, None; Grazyna Adamus, None; Alessandro Iannaccone, None
  • Footnotes
    Support  Research to Prevent Blindness, Inc. New York, NY (Unrestricted Grant to Duke Eye Center), Duke Retinal Degenerations Research Fund, Duke Retina Genetics Research Fund
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 3234. doi:
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    • Get Citation

      Oleg Alekseev, Grazyna Adamus, Alessandro Iannaccone; Inflammatory Findings in Autosomal Recessive Retinitis Pigmentosa (ARRP) Associated with EYS Gene Mutations. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3234.

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

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Abstract

Purpose : To report the characteristics of inflammatory features seen in EYS-associated ARRP.

Methods : We retrospectively identified 20 subjects (M=8/F=12, age 23-80), all of whom had undergone a complete eye examination, inclusive of visual fields (VFs) and flash ERGs, macular (n=20) and optic nerve (n=13) spectral domain optical coherence tomography (SD-OCT) and, in 12 of them, fluorescein angiography (FA) and CLIA-certified testing for circulating auto-antibodies (AAbs) against retinal and/or retrobulbar optic nerve antigens by either immunoblot or Western blot, as well as retinal immunohistochemistry (IHC).

Results : All 12 patients who underwent FA showed optic nerve head leakage, involving also the vascular arcades in 4 cases. RNFL was thickened, most often sectorally, in 12 of 13 patients assessed, and correlated well with FA leakage, helping explain disproportionate visual acuity losses compared to foveal findings or disproportionate VF loss compared to retinal imaging or functional findings. Cystoid macular edema (CME) was seen by SD-OCT in only 3 patients. AAbs were identified in all tested subjects. Anti-retinal AAbs were found in 11 of the 12 tested patients [most common: anti enolase (8/12) and TULP1 (4/12)]. AAbs recognizing anti-optic nerve antigens were found in 8 out of 9 tested patients. AAbs against both tissues were seen in 6 patients. Retinal IHC showed positive staining in 9 of 12 cases, predominantly labeling photoreceptors (8/12) and less frequently ganglion cells and RNFL. Altogether, 70% (14/20) of patients exhibited signs of overt inflammation and, in 12 of them, they were associated with an autoimmune component that correlated closely with imaging and functional findings. These patients received intravitreal and/or sub-Tenon steroid injections, with both subjective and measurable increase in vision (acuity, visual field, or both), associated with improved OCT and IVFA characteristics achieved in most.

Conclusions : Inflammation involving both retina and/or optic nerve (disc, RNFL, RGC) appears to be a common yet underdiagnosed feature of EYS-associated ARRP, affecting the majority of patients. These changes can be readily detected with OCT and FA, and can be further confirmed by AAb/IHC testing. Identification of these complications is clinically and prognostically important, as meaningful vision improvement can be achieved with peri/intraocular steroid injections.

This is a 2021 ARVO Annual Meeting abstract.

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