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Participants were evaluated based on self\u2010reported ophthalmological history and ophthalmological investigations (computerized visual field testing, best\u2010corrected visual acuity, and ophthalmoscopic and electrophysiological examination). Optical coherence tomography and fundus autofluorescence imaging were performed when possible. Auditory and vestibular functions were evaluated. Patients were classified according to the type of variant and the protein domain where the variants were located.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Most patients displayed a typical USH1 phenotype, that is, prelingual severe\u2010profound sensorineural hearing loss, prepubertal retinitis pigmentosa (RP) and vestibular dysfunction. No statistically significant differences were observed for the variables analysed except for the onset of hearing loss due to the existence of two USH2 cases, defined as postlingual sensorineural hearing loss, postpubertal onset of RP, and absence of vestibular dysfunction, and one atypical case of USH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We were unable to find a correlation between genotype and phenotype for <jats:italic>MYO7A<\/jats:italic>. However, our findings could prove useful for the assessment of efficacy in clinical trials, since the type of <jats:italic>MYO7A<\/jats:italic> variant does not seem to change the onset, severity or course of visual disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.14795","type":"journal-article","created":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T04:51:52Z","timestamp":1613278312000},"page":"922-930","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Genotype\u2013phenotype correlation in patients with Usher syndrome and pathogenic variants in <i>MYO7A<\/i>: implications for future clinical trials"],"prefix":"10.1111","volume":"99","author":[{"given":"Lili\u00e1n","family":"Galbis\u2010Mart\u00ednez","sequence":"first","affiliation":[{"name":"Department of Genetics University Hospital Fundacion Jimenez Diaz IIS\u2010FJD UAM Madrid Spain"},{"name":"CIBERER ISCIII Madrid 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