June 2020
Volume 61, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2020
Visual Acuity in a Large USH2A Cohort
Author Affiliations & Notes
  • Rosalie Nolen
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Robert Hufnagel
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Amy Turriff
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Thomas Friedman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Bethesda, Maryland, United States
  • Ehsan Ullah
    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 Cukras
    Division of Epidemiology and Clinical Applications, National Eye Institute, Maryland, United States
  • Brett Jeffrey
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Ekaterini Tsilou
    CBER, FDA, Maryland, United States
  • Brian Brooks
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Wadih Zein
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland, United States
  • Footnotes
    Commercial Relationships   Rosalie Nolen, None; Robert Hufnagel, None; Amy Turriff, None; Thomas Friedman, None; Ehsan Ullah, None; Laryssa Huryn, None; Catherine Cukras, None; Brett Jeffrey, None; Ekaterini Tsilou, None; Brian Brooks, None; Wadih Zein, None
  • Footnotes
    Support  NEI Intramural Program
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 3021. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Rosalie Nolen, Robert Hufnagel, Amy Turriff, Thomas Friedman, Ehsan Ullah, Laryssa Huryn, Catherine Cukras, Brett Jeffrey, Ekaterini Tsilou, Brian Brooks, Wadih Zein; Visual Acuity in a Large USH2A Cohort. Invest. Ophthalmol. Vis. Sci. 2020;61(7):3021.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : To describe a large cohort of Usher syndrome (USH) and non-syndromic retinitis pigmentosa (RP) due to disease-causing variants in USH2A.

Methods : Patients with Usher syndrome or non-syndromic RP caused by pathogenic or likely pathogenic variants in USH2A were enrolled under protocols dedicated to study USH or RP and clinical data was collected prospectively between 2004 and 2019 in the Ophthalmic Genetics clinic of the National Eye Institute. Patients underwent ophthalmologic evaluations including visual acuity and field testing. Audiology was performed on patients with a diagnosis of USH. Molecular diagnosis was established through Sanger sequencing of USH genes or Next-Generation Sequencing.

Results : Sixty-seven patients with disease-causing variants in USH2A were enrolled, of which 49 (73.1%) had clinical diagnoses of USH and 18 (26.9%) non-syndromic RP. Forty-one (61.2%) were female, and 26 (38.8%) were male. Forty-six (68.7%) patients were followed longitudinally for a median of three visits and five years. The average age at last visit was 42.3 years (SD=15.6). At last visit, the average logMAR best corrected visual acuity in the better seeing eye was 0.38 (SD=0.66). Patients younger than 50 years of age (n=44) had an average logMAR of 0.15 in the better acuity eye and 0.25 in the worse acuity eye. Better eye logMAR was 0.53 for patients between 50 and 59 years of age (n=11) and 1.07 for patients older than 60 years. The most prevalent disease-causing variants were c.2299delG and p.C759F. Eleven (22.4%) patients with USH had one truncating variant and 29 (59.2%) had two. No patients with non-syndromic RP had two truncating variants.

Conclusions : Our cohort has a diverse profile of genetic variants in USH2A. Despite progressive visual field loss, note is made of relative visual acuity preservation at least through the fifth decade of life in this cohort of USH2A patients. This has implications for visual function prognostication and for planning of therapeutic clinical trials.

This is a 2020 ARVO Annual Meeting abstract.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×