Suzanne de Bruijn

31 General introduction REFERENCES 1. Keller, B.K., Morton, J.L., Thomas, V.S. & Potter, J.F. The effect of visual and hearing impairments on functional status. Journal of the American Geriatrics Society 47 , 1319-1325 (1999). 2. Mener, D.J., Betz, J., Genther, D.J., Chen, D. & Lin, F.R. Hearing loss and depression in older adults. Journal of the American Geriatrics Society 61 , 1627-1629 (2013). 3. Arlinger, S. Negative consequences of uncorrected hearing loss--a review. International Journal of Audiology 42 , 2S17-2S20 (2003). 4. Korver, A.M., Smith, R.J., Van Camp, G., Schleiss, M.R., Bitner-Glindzicz, M.A., Lustig, L.R. et al. Congenital hearing loss. Nature reviews. Disease primers 3 , 16094 (2017). 5. Purves, D., Augustine, G., Fitzpatrick, D., Hall, W., Lamantia, A. & White, L. Vision: the eye. in Neuroscience (eds. Purves, D. & Augustine, G.) 229-256 (Sinauer Associates Inc, 2012). 6. Snell, R.S. & Lemp, M.A. The eyeball. in Clinical Anatomy of the Eye 132-213 (1997). 7. Kolb, H. Gross anatomy of the eye. in Webvision: The Organization of the Retina and Visual System (eds. Kolb, H., Fernandez, E. & Nelson, R.) (University of Utah Health Sciences Center, 1995). 8. Hartong, D.T., Berson, E.L. & Dryja, T.P. Retinitis pigmentosa. Lancet 368 , 1795-1809 (2006). 9. Wheway, G., Parry, D.A. & Johnson, C.A. The role of primary cilia in the development and disease of the retina. Organogenesis 10 , 69-85 (2014). 10. Strauss, O. The retinal pigment epithelium in visual function. Physiological Reviews 85 , 845- 881 (2005). 11. Berger, W., Kloeckener-Gruissem, B. & Neidhardt, J. The molecular basis of human retinal and vitreoretinal diseases. Progress in Retinal and Eye Research 29 , 335-375 (2010). 12. den Hollander, A.I., Black, A., Bennett, J. & Cremers, F.P.M. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. The Journal of Clinical Investigation 120 , 3042-3053 (2010). 13. RetNet. Available from: https://sph.uth.edu/RetNet/. 14. Chen, E.Y., Tan, C.M., Kou, Y., Duan, Q., Wang, Z., Meirelles, G.V. et al. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool. BMC Bioinformatics 14 , 128 (2013). 15. Verbakel, S.K., van Huet, R.A.C., Boon, C.J.F., den Hollander, A.I., Collin, R.W.J., Klaver, C.C.W. et al. Non-syndromic retinitis pigmentosa. Progress in Retinal and Eye Research 66 , 157-186 (2018). 16. Hamel, C. Retinitis pigmentosa. Orphanet Journal of Rare Diseases 1 , 40-40 (2006). 17. Stone, E.M., Andorf, J.L., Whitmore, S.S., DeLuca, A.P., Giacalone, J.C., Streb, L.M. et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology 124 , 1314-1331 (2017). 18. Toualbi, L., Toms, M. & Moosajee, M. USH2A-retinopathy: from genetics to therapeutics. Experimental Eye Research 201 , 108330 (2020). 19. Khateb, S., Kowalewski, B., Bedoni, N., Damme, M., Pollack, N., Saada, A. et al. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genetics in Medicine 20 , 1004-1012 (2018).

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