June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Auditory and olfactory findings from the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) study
Author Affiliations & Notes
  • Alessandro Iannaccone
    Duke University, Durham, North Carolina, United States
  • Carmen C. Brewer
    National Institute on Deafness and Other Communication Disorders, Bethesda, Maryland, United States
  • Peiyao Cheng
    Jaeb Centre for Health Research, Tampa, Florida, United States
  • Jacque L Duncan
    University of California San Francisco, San Francisco, California, United States
  • Maureen G Maguire
    University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Isabelle Audo
    Institut de la vision, Paris, Île-de-France, France
  • Allison Ayala
    Jaeb Centre for Health Research, Tampa, Florida, United States
  • Paul S Bernstein
    University of Utah Health, Salt Lake City, Utah, United States
  • Gavin M. bidelman
    The University of Memphis, Memphis, Tennessee, United States
  • Janet K Cheetham
    Foundation Fighting Blindness Inc, Columbia, Maryland, United States
  • Richard L. Doty
    University of Pennsylvania, Philadelphia, Pennsylvania, United States
  • Todd Durham
    Foundation Fighting Blindness Inc, Columbia, Maryland, United States
  • Robert B Hufnagel
    National Eye Institute, Bethesda, Maryland, United States
  • Mark H. Myers
    The University of Tennessee Health Science Center, Memphis, Tennessee, United States
  • Wadih M Zein
    National Eye Institute, Bethesda, Maryland, United States
  • Footnotes
    Commercial Relationships   Alessandro Iannaccone, Acucela (F), Alia Therapeutics (S), Allergan/Retrosense (F), Applied Genetic Technologies (F), Applied Genetic Technologies (C), Astellas (C), ClearView Healthcare Partners (C), Editas Medicine (C), Endogena (C), Evolution Medical (C), Frontera Therapeutics (C), GLG Group (C), Guidepoint Clinical (C), Gyroscope (C), Huron Consulting Group (C), IQVIA (C), Kairos Ventures (C), Rhythm Pharmaceuticals (C), Riovant Pharma (C), Teladoc Health (C); Carmen Brewer, None; Peiyao Cheng, None; Jacque Duncan, 4D Therapeutics (C), Acucela (F), AGTC (C), Allergan/Abbvie (F), Astellas (C), Biogen/Nightstarx Therapeutics (F), DTx Therapeutics (C), Editas (C), Eloxx (C), Eyevensys (C), Gyroscope (C), Horama (C), Neurotech USA (F), Partner-RxSight (I), ProQR Therapeutics (C), Second Sight Medical Products (F), Sparing Vision (C), Spark Therapeutics (C), Vedere Bio (C); Maureen Maguire, None; Isabelle Audo, Agence Nationale de la Recherche within the Investissements d'Avenir program [ANR-11-IDEX-0004-0] (F), Biogen (C), Gamut Tx (C), IHU FOReSIGHT [ANR-18-IAHU-0001] (F), LABEX LIFESENSES [reference ANR-10-LABX-65] (F), MeiraGTX (C), Novartis (C), Retina France (F), Roche (C); Allison Ayala, None; Paul Bernstein, None; Gavin bidelman, None; Janet Cheetham, Abbvie (I); Richard Doty, Cambridge University Press (I), Eisai Co. ltd. (C), Elsevier (I), John Hopkins University Press (I), Johnson & Johnson (C), John Wiley & Sons, Inc (I), McGraw-Hill (I), Merck Pharmaceuticals (C), Michael J. Fox Foundation (C), Sensonics International (S), Sensonics International (I); Todd Durham, None; Robert Hufnagel, None; Mark Myers, None; Wadih Zein, None
  • Footnotes
    Support  Foundation Fighting Blindness
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 1537. doi:
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      Alessandro Iannaccone, Carmen C. Brewer, Peiyao Cheng, Jacque L Duncan, Maureen G Maguire, Isabelle Audo, Allison Ayala, Paul S Bernstein, Gavin M. bidelman, Janet K Cheetham, Richard L. Doty, Todd Durham, Robert B Hufnagel, Mark H. Myers, Wadih M Zein; Auditory and olfactory findings from the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) study. Invest. Ophthalmol. Vis. Sci. 2021;62(8):1537.

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

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Abstract

Purpose : While sensorineural hearing loss (SNHL) is a characteristic of Usher syndrome type 2 (USH2), less is known about SNHL in USH2A-associated non-syndromic autosomal recessive retinitis pigmentosa (ARRP) and olfaction in USH2A-associated retinal degeneration. We investigate SNHL and olfaction in patients with USH2A-related disease using cross-sectional baseline data collected in a multicenter natural history study.

Methods : The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) study enrolled 127 participants, 80 USH2 and 47 ARRP (male/female = 59/68, 113 White). Hearing was measured by pure-tone thresholds and word recognition score, and olfaction by the University of Pennsylvania Smell Identification Test (UPSIT). Associations of participant characteristics with SNHL and UPSIT scores were assessed by linear regression models. Correlation of UPSIT scores with different visual measures were assessed by Spearman correlation coefficients. UPSIT scores were also compared to historical healthy control subjects of similar age and gender.

Results : SNHL was moderate in 72% of USH2 participants and severe or profound in 25%, while 9% of ARRP participants had moderate adult-onset sensorineural hearing loss. Pure-tone thresholds increased (worsened) with age in ARRP (p<0.001) but not in USH2 participants (p=0.46). The degree of SNHL was not significantly associated with gender, race/ethnicity or smoking status. Among 14 USH2 participants reporting newborn hearing screening results, 7 reported passing. Among RUSH2A participants, 7% had mild microsmia and 5% had moderate or severe microsmia; however, their mean (±SD) UPSIT score was 35 (±3), similar to healthy controls [34 (±3); p=0.39]. Smell function differed by country (p=0.02), but was not significantly associated with clinical diagnosis, age, gender, race/ethnicity, smoking status, visual measures, or hearing function.

Conclusions : Hearing loss in USH2A-related USH2 did not increase with age. ARRP patients do not appear to be at risk for significant hearing loss beyond that associated with aging. Newborn hearing screening did not identify all USH2-related hearing loss. Olfaction was not significantly worse than normal in participants with USH2A-related retinal degeneration. Pathogenic variants in USH2A variably affect auditory hair cells but have no significant impact on olfaction.

This is a 2021 ARVO Annual Meeting abstract.

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