References
- Yan D, Liu XZ. Genetics and pathological mechanisms of Usher syndrome. J Hum Genet. 2010;55(6):327–335.
- Ahmed ZM, Riazuddin S, Ahmad J, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003;12(24):3215–3223.
- Astuto LM, Bork JM, Weston MD, et al. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet. 2002;71(2):262–275.
- Rivolta C, Sweklo EA, Berson EL, et al. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet. 2000;66(6):1975–1978.
- Yoshimura H, Iwasaki S, Nishio SY, et al. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. PLoS One. 2014;9(3):e90688.
- Moteki H, Yoshimura H, Azaiez H, et al. USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. Ann Otol Rhinol Laryngol. 2015;124(Suppl 1):123S–128S.
- Yoshimura H, Iwasaki S, Kanda Y, et al. An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. Int J Pediatr Otorhinolaryngol. 2013;77(2):298–302.
- Nakamura Y, the Study Group on Epidemiologic Research for Instractable Diseases. A manual of a nationwide epidemiological survey for estimating the number of patients and assessing clinico-epidemiological characteristics of patients with intractable diseases (3rd edition) [in Japanese]. 2017. Available at: http://www.jichi.ac.jp/dph/nanbyou/manual_2017.pdf (Accessed 12 August, 2021).
- Ohfuji S, Furuichi Y, Akahoshi T, et al. Japanese periodical nationwide epidemiologic survey of aberrant portal hemodynamics. Hepatol Res. 2019;49(8):890–901.
- Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36(8):595–603.
- Grondahl J. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet. 1987;31(4):255–264.
- Pakarinen L, Karjalainen S, Simola KO, et al. Usher’s syndrome type 3 in Finland. Laryngoscope. 1995;105(6):613–617.
- Rosenberg T, Haim M, Hauch AM, et al. The prevalence of usher syndrome and other retinal dystrophy-hearing impairment associations. Clin Genet. 1997;51(5):314–321.
- Hope CI, Bundey S, Proops D, et al. Usher syndrome in the city of Birmingham-prevalence and clinical classification. Br J Ophthalmol. 1997;81(1):46–53.
- Spandau UH, Rohrschneider K. Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol. 2002;240(6):495–498.
- Jouret G, Poirsier C, Spodenkiewicz M, et al. Genetics of Usher syndrome: new insights from a Meta-analysis. Otol Neurotol. 2019;40(1):121–129.