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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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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.
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.
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.
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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