Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene
作者： Bohdan Kousal , Niki Hart-Holden , Alison J. Hardcastle , Tracy Fletcher , Michel Michaelides
DOI:
关键词:
摘要: Purpose To describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated severe visual impairment women.
molvis.org参考文章(33)
Dimitrios Spyropoulos, Pericles Kosmides, George Kampougeris, Aggeliki Zografou, Adrianna Mitropoulou, Peripapillary retinal nerve fibre layer thickness measurement with SD-OCT in normal and glaucomatous eyes: distribution and correlation with age International Journal of Ophthalmology. ,vol. 6, pp. 662- 665 ,(2013) , 10.3980/J.ISSN.2222-3959.2013.05.21
S P Daiger, L S Sullivan, S J Bowne, Genes and mutations causing retinitis pigmentosa Clinical Genetics. ,vol. 84, pp. 132- 141 ,(2013) , 10.1111/CGE.12203
Lauren N Ayton, Robyn H Guymer, Chi D Luu, Choroidal thickness profiles in retinitis pigmentosa Clinical and Experimental Ophthalmology. ,vol. 41, pp. 396- 403 ,(2013) , 10.1111/J.1442-9071.2012.02867.X
Uwe Schwahn, Steffen Lenzner, Juan Dong, Silke Feil, Bernd Hinzmann, Gerard van Duijnhoven, Renate Kirschner, Myriam Hemberger, Arthur A.B. Bergen, Thomas Rosenberg, Alfred J.L.G. Pinckers, Reinald Fundele, André Rosenthal, Frans P.M. Cremers, H.-Hilger Ropers, Wolfgang Berger, Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nature Genetics. ,vol. 19, pp. 327- 332 ,(1998) , 10.1038/1214
Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, Elena Zinovieva, Morgane Stum, Nadine Gigarel, Hélène Dollfus, Christian Hamel, Annick Toutain, Jean-Louis Dufier, Olivier Roche, Arnold Munnich, Jean-Paul Bonnefont, Josseline Kaplan, Jean-Michel Rozet, Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Human Mutation. ,vol. 28, pp. 81- 91 ,(2007) , 10.1002/HUMU.20417
Carsten M. Pusch, Martina Broghammer, Bernhard Jurklies, Dorothea Besch, Felix K. Jacobi, Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa. Human Mutation. ,vol. 20, pp. 405- 405 ,(2002) , 10.1002/HUMU.9072
Dilsher S Dhoot, Siya Huo, Alex Yuan, David Xu, Sunil Srivistava, Justis P Ehlers, Elias Traboulsi, Peter K Kaiser, Evaluation of choroidal thickness in retinitis pigmentosa using enhanced depth imaging optical coherence tomography British Journal of Ophthalmology. ,vol. 97, pp. 66- 69 ,(2013) , 10.1136/BJOPHTHALMOL-2012-301917
Wolfgang Berger, Barbara Kloeckener-Gruissem, John Neidhardt, The molecular basis of human retinal and vitreoretinal diseases. Progress in Retinal and Eye Research. ,vol. 29, pp. 335- 375 ,(2010) , 10.1016/J.PRETEYERES.2010.03.004
Akira Hagiwara, Shuichi Yamamoto, Kazuha Ogata, Takeshi Sugawara, Ayako Hiramatsu, Mamiko Shibata, Yoshinori Mitamura, Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery. Acta Ophthalmologica. ,vol. 89, ,(2011) , 10.1111/J.1755-3768.2010.01866.X
J. den Dunnen, S. Antonarakis, Nomenclature for the description of human sequence variations Human Genetics. ,vol. 109, pp. 121- 124 ,(2001) , 10.1007/S004390100505