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Genetic testing for central areolar choroidal dystrophy

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EBTNA Utility Gene Test on Ophthalmology

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1. Ashton N. Central areolar choroidal sclerosis; a histopathological study. Br J Ophthalmol. 1953 Mar; 37(3):140-7. PubMed PMID: 13032370; PubMed Central PMCID: PMC1324084.10.1136/bjo.37.3.140Search in Google Scholar

2. Carr RE. Central areolar choroidal dystrophy. Arch Ophthalmol. 1965 Jan; 73:32-5. PubMed PMID: 14220602.10.1001/archopht.1965.00970030034008Search in Google Scholar

3. Ferry AP, Llovera I, Shafer DM. Central areolar choroidal dystrophy. Arch Ophthalmol. 1972 Jul; 88(1):39-43. PubMed PMID: 5049453.10.1001/archopht.1972.01000030041008Search in Google Scholar

4. Hoyng CB, Deutman AF. The development of central areolar choroidal dystrophy. Graefes Arch Clin Exp Ophthalmol. 1996 Feb; 234(2):87-93. PubMed PMID: 8720677.10.1007/BF00695246Search in Google Scholar

5. Downes SM, Fitzke FW, Holder GE, Payne AM, Bessant DA, Bhattacharya SS, et al. Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families. Arch Ophthalmol. 1999 Oct; 117(10):1373-83. PubMed PMID: 10532447.10.1001/archopht.117.10.1373Search in Google Scholar

6. Keilhauer CN, Meigen T, Weber BH. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. Arch Ophthalmol. 2006 Jul; 124(7):1020-7. PubMed PMID: 16832026.10.1001/archopht.124.7.1020Search in Google Scholar

7. Krill AE, Archer D. Classification of the choroidal atrophies. Am J Ophthalmol. 1971 Sep; 72(3):562-85. PubMed PMID: 5315093.10.1016/0002-9394(71)90854-3Search in Google Scholar

8. Keilhauer CN, Meigen T, Stohr H, Weber BH. Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. Ophthalmic Genet. 2006 Dec; 27(4):139-44. PubMed PMID: 17148040.10.1080/1381681060097682217148040Search in Google Scholar

9. Klevering BJ, van Driel M, van Hogerwou AJ, van De Pol DJ, Deutman AF, Pinckers AJ, et al. Central areolar choroidal dystrophy associated with dominantly inherited drusen. Br J Ophthalmol. 2002 Jan; 86(1):91-6. PubMed PMID: 11801511; PubMed Central PMCID: PMC1770981.10.1136/bjo.86.1.91177098111801511Search in Google Scholar

10. de Jong PT. Age-related macular degeneration. N Engl J Med. 2006 Oct 5; 355(14):1474-85. Review. PubMed PMID: 17021323. 10.1056/NEJMra06232617021323Search in Google Scholar

11. Khani SC, Karoukis AJ, Young JE, Ambasudhan R, Burch T, Stockton R, et al. Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene. Invest Ophthalmol Vis Sci. 2003 Aug; 44(8):3570-7. PubMed PMID: 12882809; PubMed Central PMCID: PMC2581458.10.1167/iovs.02-1287258145812882809Search in Google Scholar

12. Apfelstedt-Sylla E, Theischen M, Ruther K, Wedemann H, Gal A, Zrenner E. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. Br J Ophthalmol. 1995 Jan; 79(1):28-34. PubMed PMID: 7880786; PubMed Central PMCID: PMC505014.10.1136/bjo.79.1.285050147880786Search in Google Scholar

13. Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, et al. Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br J Ophthalmol. 2007 Nov; 91(11):1504-11. Epub 2007 May 15. PubMed PMID: 17504850; PubMed Central PMCID: PMC2095453.10.1136/bjo.2007.115659209545317504850Search in Google Scholar

14. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol. 1993 Nov; 111(11):1531-42. PubMed PMID: 8240110.10.1001/archopht.1993.010901100970338240110Search in Google Scholar

15. Hughes AE, Meng W, Lotery AJ, Bradley DT. A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. Invest Ophthalmol Vis Sci. 2012 Jul 12; 53(8):4748-53. doi: 10.1167/iovs.12-10061. PubMed PMID: 22695961.Search in Google Scholar

16. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good Laboratoty Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep. 2009 Jun 12; 58 (RR-6):1-29. PubMed PMID: 19521335.Search in Google Scholar

17. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov; 119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.Search in Google Scholar

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