PubMed

Genetic and phenotypic heterogeneity in pattern dystrophy.

Francis PJ, Schultz DW, Gregory AM, Schain MB, Barra R, Majewski J, Ott J, Acott T, Weleber RG, Klein ML.

Br J Ophthalmol. 2005 Sep;89(9):1115-9.PMID: 16113362 [PubMed - indexed for MEDLINE]Related articlesFree article

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM.

Ophthalmology. 1995 Feb;102(2):246-55.PMID: 7862413 [PubMed - indexed for MEDLINE]Related articles

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.

Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM.

Arch Ophthalmol. 1993 Nov;111(11):1531-42.PMID: 8240110 [PubMed - indexed for MEDLINE]Related articles

Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.

Grover S, Fishman GA, Stone EM.

Ophthalmology. 2002 Jun;109(6):1110-7.PMID: 12045052 [PubMed - indexed for MEDLINE]Related articles

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.

Fossarello M, Bertini C, Galantuomo MS, Cao A, Serra A, Pirastu M.

Arch Ophthalmol. 1996 Apr;114(4):448-56.PMID: 8602784 [PubMed - indexed for MEDLINE]Related articles

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.

Ophthalmology. 2005 Sep;112(9):1592-8.PMID: 16019073 [PubMed - indexed for MEDLINE]Related articles

Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.

Keilhauer CN, Meigen T, Weber BH.

Arch Ophthalmol. 2006 Jul;124(7):1020-7.PMID: 16832026 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.

Hoyng CB, Heutink P, Testers L, Pinckers A, Deutman AF, Oostra BA.

Am J Ophthalmol. 1996 Jun;121(6):623-9.PMID: 8644804 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant macular dystrophy in a large Canadian family.

Donoso LA, Hageman G, Frost A, Sheffield V, Beck J, Hébert M, MacDonald IM.

Can J Ophthalmol. 2003 Feb;38(1):33-40.PMID: 12608515 [PubMed - indexed for MEDLINE]Related articles

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.

Sears JE, Aaberg TA Sr, Daiger SP, Moshfeghi DM.

Am J Ophthalmol. 2001 Nov;132(5):693-9.PMID: 11704030 [PubMed - indexed for MEDLINE]Related articles

Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.

Nakazawa M, Wada Y, Tamai M.

Retina. 1995;15(6):518-23.PMID: 8747448 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.

Nakazawa M, Naoi N, Wada Y, Nakazaki S, Maruiwa F, Sawada A, Tamai M.

Retina. 1996;16(5):405-10.PMID: 8912967 [PubMed - indexed for MEDLINE]Related articles

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U.

Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. Epub 2008 Nov 26.PMID: 19038374 [PubMed - indexed for MEDLINE]Related articles

A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.

van Lith-Verhoeven JJ, van den Helm B, Deutman AF, Bergen AA, Cremers FP, Hoyng CB, de Jong PT.

Arch Ophthalmol. 2003 Oct;121(10):1452-7.PMID: 14557182 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.

Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, Cremers FP, Hoyng CB, Klevering BJ.

Br J Ophthalmol. 2007 Nov;91(11):1504-11. Epub 2007 May 15.PMID: 17504850 [PubMed - indexed for MEDLINE]Related articles

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EM.

Ophthalmic Genet. 1996 Dec;17(4):175-86.PMID: 9010868 [PubMed - indexed for MEDLINE]Related articles

Central areolar choroidal dystrophy.

Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB.

Ophthalmology. 2009 Apr;116(4):771-82, 782.e1. Epub 2009 Feb 25.PMID: 19243827 [PubMed - indexed for MEDLINE]Related articles

Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.

Wroblewski JJ, Wells JA 3rd, Eckstein A, Fitzke F, Jubb C, Keen TJ, Inglehearn C, Bhattacharya S, Arden GB, Jay M, et al.

Ophthalmology. 1994 Jan;101(1):12-22.PMID: 8302543 [PubMed - indexed for MEDLINE]Related articles

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.

Downes SM, Fitzke FW, Holder GE, Payne AM, Bessant DA, Bhattacharya SS, Bird AC.

Arch Ophthalmol. 1999 Oct;117(10):1373-83.PMID: 10532447 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.

Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M.

Arch Ophthalmol. 1996 Jan;114(1):72-8.PMID: 8540854 [PubMed - indexed for MEDLINE]Related articles