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Original Article

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

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Pages 13-25 | Received 13 Mar 2012, Accepted 07 Jun 2012, Published online: 25 Jan 2013

REFERENCES

  • Traboulsi, EI. Hope and major strides for genetic diseases of the eye. J Genet, 2009 Dec;88(4):395–397
  • Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis 2006 Oct 11;1:40
  • Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M. Update on Usher syndrome. Curr Opin Neurol 2009 Feb;22(1):19–27
  • Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies – disease mechanisms and therapeutic strategies. Prog Retin Eye Res 2011 Mar;30(2):81–114
  • Zhou ZJ, Lee S. Synaptic physiology of direction selectivity in the retina. J Physiol 2008 Sep 15;586(Pt 18):4371–4376
  • Sitorus RS, Abidin MS, Prihartono J. Causes and temporal trends of childhood blindness in Indonesia: study at schools for the blind in Java. Br J Ophthalmol 2007 Sep;91(9):1109–1113
  • Sen P, Bhargava A, George R, et al. Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic Epidemiol 2008 Jul–Aug;15(4):279–281
  • Sia DI, Muecke J, Hammerton M, et al. A survey of visual impairment and blindness in children attending four schools for the blind in Cambodia. Ophthalmic Epidemiol 2010 Aug;17(4):225–233
  • Puech B, Kostrubiec B, Hache JC, François P. [Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France]. J Fr Ophtalmol 1991;14(3):153–164
  • Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl 2002;(233):1–34
  • Hata H, Yonezawa M, Nakanishi T, et al. Causes of entering institutions for visually handicapped persons during the past fifteen years. Jpn J Clin Ophthalmol 2003;57:259–262
  • Al-Merjan JI, Pandova MG, Al-Ghanim M, et al. Registered blindness and low vision in Kuwait. Ophthalmic Epidemiol 2005 Aug;12(4):251–257
  • Tous HM, Izquierdo NJ. Retinitis pigmentosa in Puerto Rico. P R Health Sci J 2006 Dec;25(4):315–318
  • Xu L, Hu L, Ma K, et al. Prevalence of retinitis pigmentosa in urban and rural adult Chinese: the Beijing Eye Study. Eur J Ophthalmol 2006 Nov–Dec;16(6):865–866
  • Sen P, Bhargava A, George R, et al. Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic Epidemiol 2008 Jul–Aug;15(4):279–281
  • Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 2009 Feb;118(1):69–77
  • Preferred test conditions for determining hearing thresholds for standardization. ISO/TC 43/WG 1 Threshold of hearing. International Organization for Standardization Technical Committee 43. Scand Audiol 1996;25(1):45–52
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 Feb 11;16(3):1215
  • Haddad MA, Sei M, Sampaio MW, Kara-José N. Causes of visual impairment in children: a study of 3,210 cases. J Pediatr Ophthalmol Strabismus 2007 Jul–Aug;44(4):232–240
  • Sitorus RS, Abidin MS, Prihartono J. Causes and temporal trends of childhood blindness in Indonesia: study at schools for the blind in Java. Br J Ophthalmol 2007 Sep;91(9):1109–1113
  • Ayuso C, Garcia-Sandoval B, Najera C, et al. Retinitis pigmentosa in Spain. The Spanish multicentric and multidisciplinary group for research into retinitis pigmentosa. Clin Genet 1995 Sep;48(3):120–122
  • Rebello MT, Greenberg LJ, Ramesar RS. A computer-based register for inherited retinal dystrophies in Southern Africa. Ophthalmic Genet 2002 Mar;23(1):61–65
  • Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol 1982 Jul;66(7):405–416
  • Kaplan J, Bonneau D, Frézal J, et al. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 1990 Oct;85(6):635–642
  • Nájera C, Millán JM, Beneyto M, Prieto F. Epidemiology of retinitis pigmentosa in the Valencian community (Spain). Genet Epidemiol 1995;12(1):37–46
  • Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006;368:1795–1809
  • Hanein S, Perrault I, Gerber S, et al. Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA. Adv Exp Med Biol 2006;572:15–20
  • den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008 Jul;27(4):391–419
  • Michaelides M, Hunt DM, Moore AT. The genetics of inherited macular dystrophies. J Med Genet 2003 Sep;40(9):641–650
  • Hamel CP, Griffoin JM, Bazalgette C, et al. [Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]. J Fr Ophtalmol 2000 Dec;23(10):985–995
  • Sohocki MM, Daiger SP, Bowne SJ, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat 2001;17(1):42–51
  • Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007 Feb;125(2):151–158
  • Stone EM. Genetic testing for inherited eye disease. Arch Ophthalmol 2007;125:205–212
  • Rooryck C, Morice-Picard F, Elçioglu NH, et al. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res 2008 Oct;21(5):583–587
  • Besnard T, Vaché C, Baux D, et al. Non-USH2A mutations in USH2 patients. Hum Mutat 2012 Mar;33(3):504–510
  • Mockel A, Perdomo Y, Stutzmann F, et al. Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. Prog Retin Eye Res 2011 Jul;30(4):258–274
  • Roux AF, Faugère V, Vaché C, et al. Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci 2011 Jun 8;52(7):4063–4071
  • Vozzi D, Aaspõllu A, Athanasakis E, et al. Molecular epidemiology of Usher syndrome in Italy. Mol Vis 2011;17:1662–1668
  • Meunier I, Sénéchal A, Dhaenens CM, et al. Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology 2011 Jun;118(6):1130–1136
  • Neidhardt J, Glaus E, Lorenz B, et al. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis 2008 Jun 6;14:1081–1093
  • Hayakawa M, Fujiki K, Kanai A, et al. Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa. Jpn J Ophthalmol 1997 Jan-Feb;41(1):7–11
  • Ziviello C, Simonelli F, Testa F, et al. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J Med Genet 2005 Jul;42(7):e47
  • Clark GR, Crowe P, Muszynska D, et al. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. Ophthalmology 2010 Nov;117(11):2169–2177
  • Ávila-Fernández A, Cantalapiedra D, Aller E, et al. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis 2010 Dec 3;16:2550–2558
  • González-del Pozo M, Borrego S, Barragán I, et al. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS One 2011;6(12):e27894
  • Audo I, Bujakowska KM, Leveillard T, et al. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis 2012 Jan 25;7(1):8
  • Neveling K, Collin RW, Gilissen C, et al. Next generation genetic testing for retinitis pigmentosa. Hum Mutat 2012 Jun;33(6):963–972

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