Yuko Wada1, Toshitaka Itabashi, Hajime Sato, Makoto Tamai. 1. Department of Ophthalmology, Tohoku University School of Medicine, 1-1, Seiryo-machi, Aoba-ku, 980-77, Sendai, Japan. yukow@oph.med.tohoku.ac.jp
Abstract
PURPOSE: To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene. METHODS: Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing. RESULTS: A Thr494Met mutation in the HPRP3 gene was found in one family and it cosegregated with ADRP in the three affected members. The ophthalmic findings were those of typical retinitis pigmentosa with rapid progression after 40-years-of-age. One patient also had retinoblastoma as a child. CONCLUSION: We conclude that the Thr494Met mutation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan.
PURPOSE: To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene. METHODS: Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing. RESULTS: A Thr494Met mutation in the HPRP3 gene was found in one family and it cosegregated with ADRP in the three affected members. The ophthalmic findings were those of typical retinitis pigmentosa with rapid progression after 40-years-of-age. One patient also had retinoblastoma as a child. CONCLUSION: We conclude that the Thr494Met mutation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan.
Authors: María Martínez-Gimeno; María José Gamundi; Imma Hernan; Miquel Maseras; Elena Millá; Carmen Ayuso; Blanca García-Sandoval; Magdalena Beneyto; Concha Vilela; Montserrat Baiget; Guillermo Antiñolo; Miguel Carballo Journal: Invest Ophthalmol Vis Sci Date: 2003-05 Impact factor: 4.799
Authors: A Wang; J Forman-Kay; Y Luo; M Luo; Y H Chow; J Plumb; J D Friesen; L C Tsui; H H Heng; J L Woolford; J Hu Journal: Hum Mol Genet Date: 1997-11 Impact factor: 6.150
Authors: A B McKie; J C McHale; T J Keen; E E Tarttelin; R Goliath; J J van Lith-Verhoeven; J Greenberg; R S Ramesar; C B Hoyng; F P Cremers; D A Mackey; S S Bhattacharya; A C Bird; A F Markham; C F Inglehearn Journal: Hum Mol Genet Date: 2001-07-15 Impact factor: 6.150
Authors: E N Vithana; L Abu-Safieh; M J Allen; A Carey; M Papaioannou; C Chakarova; M Al-Maghtheh; N D Ebenezer; C Willis; A T Moore; A C Bird; D M Hunt; S S Bhattacharya Journal: Mol Cell Date: 2001-08 Impact factor: 17.970
Authors: Christina F Chakarova; Matthew M Hims; Hanno Bolz; Leen Abu-Safieh; Reshma J Patel; Myrto G Papaioannou; Chris F Inglehearn; T Jeffrey Keen; Catherine Willis; Anthony T Moore; Thomas Rosenberg; Andrew R Webster; Alan C Bird; Andreas Gal; David Hunt; Eranga N Vithana; Shomi S Bhattacharya Journal: Hum Mol Genet Date: 2002-01-01 Impact factor: 6.150
Authors: Daniel Mordes; Xiaoyan Luo; Amar Kar; David Kuo; Lili Xu; Kazuo Fushimi; Guowu Yu; Paul Sternberg; Jane Y Wu Journal: Mol Vis Date: 2006-10-26 Impact factor: 2.367
Authors: Veronika Vaclavik; Marie-Claire Gaillard; L Tiab; Daniel F Schorderet; Francis L Munier Journal: Mol Vis Date: 2010-03-19 Impact factor: 2.367