June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
EYS-ASSOCIATED RETINAL DEGENERATION: NATURAL HISTORY, GENETIC LANDSCAPE AND PHENOTYPIC SPECTRUM
Author Affiliations & Notes
  • Ricardo Soares
    Ophthalmology Department, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Porto, Portugal
  • Ana Luísa Carvalho
    Medical Genetics Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal
    University Clinic of Medical Genetics, Universidade de Coimbra Faculdade de Medicina, Coimbra, Coimbra, Portugal
  • Sílvia Simão
    Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal
  • Célia Azevedo Soares
    University Clinic of Medical Genetics Jacinto Magalhães, Centro Hospitalar Universitario do Porto EPE, Porto, Porto, Portugal
    Unit for Multidisciplinary Research in Biomedicine, Universidade do Porto Instituto de Ciencias Biomedicas Abel Salazar, Porto, Porto, Portugal
  • Miguel Raimundo
    Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal
    Coimbra Institute for Clinical and Biomedical Research (iCBR), Universidade de Coimbra Faculdade de Medicina, Coimbra, Coimbra, Portugal
  • Henrique Alves
    Coimbra Institute for Clinical and Biomedical Research (iCBR), Universidade de Coimbra Faculdade de Medicina, Coimbra, Coimbra, Portugal
    Center for Innovative Biomedicine and Biotechnology (CIBB), Universidade de Coimbra, Coimbra, Coimbra, Portugal
  • António Francisco Ambrósio
    Coimbra Institute for Clinical and Biomedical Research (iCBR), Universidade de Coimbra Faculdade de Medicina, Coimbra, Coimbra, Portugal
    Center for Innovative Biomedicine and Biotechnology (CIBB), Universidade de Coimbra, Coimbra, Coimbra, Portugal
  • Joaquim Murta
    Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal
    Coimbra Institute for Clinical and Biomedical Research (iCBR), Universidade de Coimbra Faculdade de Medicina, Coimbra, Coimbra, Portugal
  • Jorge Saraiva
    Medical Genetics Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal
    University Clinic of Pediatrics, Universidade de Coimbra Faculdade de Medicina, Coimbra, Coimbra, Portugal
  • Rufino Silva
    Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal
    Coimbra Institute for Clinical and Biomedical Research (iCBR), Universidade de Coimbra Faculdade de Medicina, Coimbra, Coimbra, Portugal
  • João Pedro Marques
    Ophthalmology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Coimbra, Portugal
    Coimbra Institute for Clinical and Biomedical Research (iCBR), Universidade de Coimbra Faculdade de Medicina, Coimbra, Coimbra, Portugal
  • Footnotes
    Commercial Relationships   Ricardo Soares None; Ana Luísa Carvalho None; Sílvia Simão None; Célia Azevedo Soares None; Miguel Raimundo None; Henrique Alves None; António Ambrósio None; Joaquim Murta None; Jorge Saraiva None; Rufino Silva None; João Pedro Marques None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 4663. doi:
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      Ricardo Soares, Ana Luísa Carvalho, Sílvia Simão, Célia Azevedo Soares, Miguel Raimundo, Henrique Alves, António Francisco Ambrósio, Joaquim Murta, Jorge Saraiva, Rufino Silva, João Pedro Marques; EYS-ASSOCIATED RETINAL DEGENERATION: NATURAL HISTORY, GENETIC LANDSCAPE AND PHENOTYPIC SPECTRUM. Invest. Ophthalmol. Vis. Sci. 2023;64(8):4663.

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

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Abstract

Purpose : To describe the natural history, genetic landscape and phenotypic spectrum of EYS-associated retinal degeneration (EYS-RD).

Methods : Retrospective, single-center cohort study complemented by a cross-sectional examination. Patients with biallelic EYS variants recruited at an inherited retinal degeneration (IRD) referral center in Portugal underwent a cross-sectional examination comprising a comprehensive ophthalmologic examination including best-corrected visual acuity (BCVA), dilated slit-lamp anterior segment and fundus biomicroscopy; ultra-widefield color fundus photography and fundus autofluorescence imaging; and spectral-domain optical coherence tomography (SD-OCT). In the setting of a retinitis pigmentosa (RP) diagnosis, every patient was classified as typical or atypical RP according to imaging criteria. Baseline demographics, age at onset of symptoms, family history, history of consanguinity, symptoms, age at diagnosis, BCVA at baseline and throughout follow-up, and EYS variants were collected from each individual patient file.
Clinical/demographic, genetic, multimodal imaging data (ellipsoid zone widths) and BCVA variation were compared between typical and atypical RP. Additionally, BCVA variation during follow-up was used as an endpoint to describe EYS-RD natural history.

Results : Fifty-eight patients (59% males; mean age 52±14 years) from 48 Caucasian families of Portuguese ancestry were included. Twenty distinct EYS variants were identified, eight of which are novel. In 32.8% patients, onset of symptoms was in early adulthood (21-30 years). A clinical diagnosis of RP was established in 57 patients and cone-rod dystrophy in one patient. Regarding RP, 75.0% of the patients were graded as typical and 25.0% as atypical. Atypical EYS-RP commonly presents with inferior crescent-shaped macular atrophy with superior mid-peripheral sparing. In EYS-RD, a negative correlation was found between age and BCVA (r=-0.50; p<0.001), with an average loss of 1.45 letters per year. When stratifying for RP phenotype, lower average loss of letters per year (p<0.001), higher BCVA (p<0.001) and larger ellipsoid zone (EZ) widths (p<0.001) were found in atypical RP.

Conclusions : This study expands the genetic spectrum of EYS-RD by reporting 8 novel variants. A high frequency of atypical phenotypes was identified. These patients have better BCVA and larger EZ widths, thus presenting an overall better prognosis.

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

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