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The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: florijn rj. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free article.
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M. van Genderen MM, et al. Among authors: florijn rj. Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896109 Free PMC article.
Clinical course of cone dystrophy caused by mutations in the RPGR gene.
Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC. Thiadens AA, et al. Among authors: florijn rj. Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25. Graefes Arch Clin Exp Ophthalmol. 2011. PMID: 21866333 Free PMC article.
Cone-rod dystrophy can be a manifestation of Danon disease.
Thiadens AA, Slingerland NW, Florijn RJ, Visser GH, Riemslag FC, Klaver CC. Thiadens AA, et al. Among authors: florijn rj. Graefes Arch Clin Exp Ophthalmol. 2012 May;250(5):769-74. doi: 10.1007/s00417-011-1857-8. Graefes Arch Clin Exp Ophthalmol. 2012. PMID: 22290069 Free PMC article.
48 results