Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Dec;185(12):3717-3727.
doi: 10.1002/ajmg.a.62437. Epub 2021 Jul 30.

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)

Alessandro Iannaccone  1 , Carmen C Brewer  2 , Peiyao Cheng  3 , Jacque L Duncan  4 , Maureen G Maguire  5 , Isabelle Audo  6   7 , Allison R Ayala  3 , Paul S Bernstein  8 , Gavin M Bidelman  9 , Janet K Cheetham  10 , Richard L Doty  5 , Todd A Durham  10 , Robert B Hufnagel  11 , Mark H Myers  12 , Katarina Stingl  13   14 , Wadih M Zein  11 ; Foundation Fighting Blindness Consortium Investigator Group
Affiliations

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)

Alessandro Iannaccone et al. Am J Med Genet A. 2021 Dec.

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.

Keywords: Usher syndrome type 2; autosomal recessive retinitis pigmentosa; olfaction; sensorineural hearing loss.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.. Scatter plots of the mean four frequency (0.5, 1, 2 and 4kHz) pure-tone average (4F-PTA) from ears vs age at study baseline.
A) USH2 (N=75); B) ARRP (N=47) Green indicates female and purple indicates male. Solid and dashed lines are percentile bands of normative data from ISO standards for females and males, respectively.
Figure 1.
Figure 1.. Scatter plots of the mean four frequency (0.5, 1, 2 and 4kHz) pure-tone average (4F-PTA) from ears vs age at study baseline.
A) USH2 (N=75); B) ARRP (N=47) Green indicates female and purple indicates male. Solid and dashed lines are percentile bands of normative data from ISO standards for females and males, respectively.
Figure 2.
Figure 2.
Scatter plots of mean word recognition score vs pure-tone average of 0.5, 1, 2 and 3kHz (WR-PTA) averaged from both ears at study baseline (N=87)
Figure 3.
Figure 3.
Smell function loss severity by clinical diagnosis.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Abadie C, Blanchet C, Baux D, Larrieu L, Besnard T, Ravel P, . . . Roux AF (2012). Audiological findings in 100 USH2 patients. Clin Genet, 82(5), 433–438. doi:10.1111/j.1399-0004.2011.01772.x - DOI - PubMed
    1. Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, . . . Lancet D. (2002). USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet, 10(6), 339–350. doi:10.1038/sj.ejhg.5200831 - DOI - PubMed
    1. Armel KC, & Ramachandran VS (1999). Acquired synesthesia in retinitis pigmentosa. Neurocase, 5(4), 293–296. doi:10.1080/13554799908411982 - DOI
    1. Beck RW, Moke PS, Turpin AH, Ferris FL 3rd, SanGiovanni JP, Johnson CA, . . . Kraker RT (2003). A computerized method of visual acuity testing: adaptation of the early treatment of diabetic retinopathy study testing protocol. Am J Ophthalmol, 135(2), 194–205. doi:10.1016/s0002-9394(02)01825-1 - DOI - PubMed
    1. Birch DG, Cheng P, Duncan JL, Ayala AR, Maguire MG, Audo I, . . . Group f. t. F. F. B. C. I. (2020). The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline. Transl Vis Sci Technol, 9(11), 9–9. doi:10.1167/tvst.9.11.9 - DOI - PMC - PubMed

Publication types

MeSH terms

Substances

Supplementary concepts