Skip to main content
Home

Navigation controls

  • Search
  • Menu
September 9 – 12, 2025 | NIH Main Bethesda, Campus

Social

  • Twitter
  • Facebook
  • Email

Current Research Festival

  • 2025
  • 2024
    • General Schedule of Events
    • 2024 NIH Distinguished Scholars Program
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • National Academy of Science Mini-Symposium
    • Special Wednesday Events
    • Vendor Exhibit Information
    • Green Labs Fair
    • Research Festival Committee
  • 2023
    • General Schedule of Events
    • NIH Early–Career Investigator Lectures
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • Vendor Exhibit Information
    • Research Festival Committee
  • 2021
  • 2019
    • General Schedule of Events
    • Plenary Sessions
    • Poster Session
    • Data Blitz
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committee
  • 2018
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2017
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2016
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • Browse by Presenter Name
    • Browse by Presenter IC
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Tours of the National Library of Medicine and Clinical Center
    • Research Festival Committees
  • 2015
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Workshop Sessions
    • Poster Sessions
    • Browse by Presenter Name
    • Browse by Presenter IC
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • TSA Research Festival Exhibit Show
    • NIH Tours
    • Research Festival Committees
  • 2014
  • 2013
  • 2012
  • 2011
  • 2010
  • 2009
  • 2008
  • 2007
  • 2006
  • 2005
  • 2004
  • 2003
  • 2002
  • 2001
  • 2000

Main navigation

  • All Research Festivals
    • 2025
    • 2024
    • 2023
    • 2021
    • 2019
    • 2018
    • 2017
    • 2016
    • 2015
    • 2014
    • 2013
    • 2012
    • 2011
    • 2010
    • 2009
    • 2008
    • 2007
    • 2006
    • 2005
    • 2004
    • 2003
    • 2002
    • 2001
    • 2000

NIH Research Festival

September 12 – 14, 2018

Investigating Determinants of Visual Outcome in Foveal Hypoplasia

Wednesday, September 12, 2018 – Poster Session I
12:00 – 1:30 p.m.

FAES Terrace

NEI

GEN-3

Authors

  • KD Bordonada
  • LA Huryn
  • WM Zein
  • BP Brooks
  • RB Hufnagel

Abstract

The fovea is an avascular zone of the retina rich in cone photoreceptors that plays an essential role in human vision, as it is responsible for improved visual acuity (VA) and color vision. Foveal hypoplasia (FH) is the incomplete formation of foveal architecture, including a lack of foveal depression and outer nuclear layer thickening with continuity of inner retinal layers. This disease is commonly seen with albinism or albinism-spectrum syndromes, aniridia, and as an isolated phenomenon. We analyzed data from a cohort of 209 NEI patients with FH, to describe relationships between retinal structure and visual function. Information on foveal imaging, VA, genetic testing, refractive error, and nystagmus was collected. Optical coherence tomography images were graded based on a published scale and analyzed by individual features: foveal contour; extrusion of inner retinal layers (IRL); widening of the outer nuclear layer (ONL); and lengthening of the outer segments (OS). We optimized and compared several grading schemas for FH using qualitative and quantitative measures, to find features of the fovea that are better predictors of VA. Our data show that nystagmus and foveal anatomy are independent determinants of VA, and that refractive error has higher variability with nystagmus and severe FH. Each component of FH has a different influence on the patient’s visual outcome, with IRL extrusion and ONL widening having a greater influence on VA than OS lengthening and foveal pit. We find that normalized IRL and ONL thickness provides a focused grading system that could be implemented in clinical trials and research settings.

Scientific Focus Area: Genetics and Genomics

This page was last updated on Friday, March 26, 2021

  • General Schedule of Events
  • Plenary Sessions
  • Concurrent Symposia Sessions
  • Poster Sessions
  • FARE Award Ceremony
  • Special Exhibits on Resources for Intramural Research
  • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
  • Research Festival Committees

2018 program

Download the 2018 Research Festival Schedule Overview (6 pages)

  • Email
  • Print
  • Share Twitter Facebook LinkedIn

Current Research Festival

  • 2025
  • 2024
    • General Schedule of Events
    • 2024 NIH Distinguished Scholars Program
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • National Academy of Science Mini-Symposium
    • Special Wednesday Events
    • Vendor Exhibit Information
    • Green Labs Fair
    • Research Festival Committee
  • 2023
    • General Schedule of Events
    • NIH Early–Career Investigator Lectures
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • Vendor Exhibit Information
    • Research Festival Committee
  • 2021
  • 2019
    • General Schedule of Events
    • Plenary Sessions
    • Poster Session
    • Data Blitz
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committee
  • 2018
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2017
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committees
  • 2016
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Symposia Sessions
    • Poster Sessions
    • Browse by Presenter Name
    • Browse by Presenter IC
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Tours of the National Library of Medicine and Clinical Center
    • Research Festival Committees
  • 2015
    • General Schedule of Events
    • Plenary Sessions
    • Concurrent Workshop Sessions
    • Poster Sessions
    • Browse by Presenter Name
    • Browse by Presenter IC
    • FARE Award Ceremony
    • Future Research Leaders
    • Special Exhibits on Resources for Intramural Research
    • TSA Research Festival Exhibit Show
    • NIH Tours
    • Research Festival Committees
  • 2014
  • 2013
  • 2012
  • 2011
  • 2010
  • 2009
  • 2008
  • 2007
  • 2006
  • 2005
  • 2004
  • 2003
  • 2002
  • 2001
  • 2000

Main navigation

  • All Research Festivals
    • 2025
    • 2024
    • 2023
    • 2021
    • 2019
    • 2018
    • 2017
    • 2016
    • 2015
    • 2014
    • 2013
    • 2012
    • 2011
    • 2010
    • 2009
    • 2008
    • 2007
    • 2006
    • 2005
    • 2004
    • 2003
    • 2002
    • 2001
    • 2000
  • Department of Health and Human Services
  • National Institutes of Health
  • USA.gov

Footer

  • Home
  • Contact Us
  • IRP
  • HHS Vulnerability Disclosure
  • Web Policies and Notices
  • Site Map
  • Search