Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A). Issue 12 (30th July 2021)

• Record Type: Journal Article
• Authors: Iannaccone, Alessandro; Brewer, Carmen C.; Cheng, Peiyao; Duncan, Jacque L.; Maguire, Maureen G.; Audo, Isabelle; Ayala, Allison R.; Bernstein, Paul S.; Bidelman, Gavin M.; Cheetham, Janet K.; Doty, Richard L.; Durham, Todd A.; Hufnagel, Robert B.; Myers, Mark H.; Stingl, Katarina; Zein, Wadih M.
• Is Part Of: American journal of medical genetics. Volume 185:Issue 12(2021)
• Page Start: 3717
• Page End: 3727
• Publication Date: 2021-07-30
• Subjects: autosomal recessive retinitis pigmentosa -- olfaction -- sensorineural hearing loss -- Usher syndrome type 2; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62437
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Sensorineural hearing loss (SNHL) is characteristic of Usher syndrome type 2 (USH2), but less is known about SNHL in nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) and olfaction in USH2A ‐associated retinal degeneration. The Rate of Progression of USH2A ‐related Retinal Degeneration (RUSH2A) is a natural history study that enrolled 127 participants, 80 with USH2 and 47 with ARRP. Hearing was measured by pure‐tone thresholds and word recognition scores, and olfaction by the University of Pennsylvania Smell Identification Test (UPSIT). SNHL was moderate in 72% of USH2 participants and severe or profound in 25%, while 9% of ARRP participants had moderate adult‐onset SNHL. Pure‐tone thresholds worsened with age in ARRP but not in USH2 participants. The degree of SNHL was not associated with other participant characteristics in either USH2 or ARRP. Median pure‐tone thresholds in ARRP participants were significantly higher than the normative population ( p < 0.001). 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. Their mean (± SD ) UPSIT score was 35 (±3), similar to healthy controls (34 [±3]; p = 0.39). Olfaction differed by country ( p = 0.02), but was not significantly associated with clinical diagnosis, age, gender, race/ethnicity, smoking status, visual measures, or hearing. Hearing loss in USH2A ‐related USH2 did not progress with age. ARRP patients had higher pure‐tone thresholds than normal. Newborn hearing screening did not identify all USH2A ‐related hearing loss. Olfaction was not significantly worse than normal in participants with USH2A‐ related retinal degeneration.