PubMed

Central areolar choroidal dystrophy associated with dominantly inherited drusen.

Klevering BJ, van Driel M, van Hogerwou AJ, van De Pol DJ, Deutman AF, Pinckers AJ, Cremers FP, Hoyng CB.

Br J Ophthalmol. 2002 Jan;86(1):91-6.PMID: 11801511 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

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 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

Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene.

Keilhauer CN, Meigen T, Stöhr H, Weber BH.

Ophthalmic Genet. 2006 Dec;27(4):139-44.PMID: 17148040 [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

Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.

Yanagihashi S, Nakazawa M, Kurotaki J, Sato M, Miyagawa Y, Ohguro H.

Arch Ophthalmol. 2003 Oct;121(10):1458-61. No abstract available. PMID: 14557183 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.

Khani SC, Karoukis AJ, Young JE, Ambasudhan R, Burch T, Stockton R, Lewis RA, Sullivan LS, Daiger SP, Reichel E, Ayyagari R.

Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3570-7.PMID: 12882809 [PubMed - indexed for MEDLINE]Related articlesFree article

Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.

Anand S, Sheridan E, Cassidy F, Inglehearn C, Williams G, Springell K, Allgar V, Kelly TL, McKibbin M.

Retina. 2009 May;29(5):682-8.PMID: 19262438 [PubMed - indexed for MEDLINE]Related articles

High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

Gamundi MJ, Hernan I, Muntanyola M, Trujillo MJ, García-Sandoval B, Ayuso C, Baiget M, Carballo M.

Mol Vis. 2007 Jun 28;13:1031-7.PMID: 17653047 [PubMed - indexed for MEDLINE]Related articlesFree article

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.

Reig C, Serra A, Gean E, Vidal M, Arumí J, De la Calzada MD, Antich J, Carballo M.

Ophthalmic Genet. 1995 Jun;16(2):39-44. Erratum in: Ophthalmic Genet 1995 Dec;16(4):179. PMID: 7493155 [PubMed - indexed for MEDLINE]Related articles

Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.

Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B.

Ophthalmic Genet. 1998 Mar;19(1):27-37.PMID: 9587927 [PubMed - indexed for MEDLINE]Related articles

A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.

Pajic B, Weigell-Weber M, Schipper I, Kryenbühl C, Büchi ER, Spiegel R, Hergersberg M.

Retina. 2006 Oct;26(8):947-53.PMID: 17031298 [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

Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene.

Khoubian FJ, Shakin EP, Tantri A, Kim DY, Edwards AO, Donoso LA.

Retina. 2005 Dec;25(8):999-1004.PMID: 16340530 [PubMed - indexed for MEDLINE]Related articles

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.

van Lith-Verhoeven JJ, Cremers FP, van den Helm B, Hoyng CB, Deutman AF.

Mol Vis. 2003 Apr 24;9:138-43.PMID: 12724643 [PubMed - indexed for MEDLINE]Related articlesFree article