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)

• Published in: American journal of medical genetics. Part A 2021-12, Vol.185 (12), p.3717-3727
• Main 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.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age; Age of Onset; autosomal recessive retinitis pigmentosa; Extracellular Matrix Proteins - genetics; Female; Genetic Predisposition to Disease; Hearing loss; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - pathology; Humans; Language; Male; Medical screening; Middle Aged; Mutation; Olfaction; Patients; Pattern recognition; Pedigree; Retina; Retinal degeneration; Retinal Degeneration - diagnosis; Retinal Degeneration - genetics; Retinal Degeneration - pathology; Retinitis; Retinitis pigmentosa; Retinitis Pigmentosa - diagnosis; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - pathology; sensorineural hearing loss; Smell - genetics; USH2A protein; Usher syndrome type 2; Usher Syndromes - diagnosis; Usher Syndromes - genetics; Usher Syndromes - pathology; Young Adult
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.62437

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