PubMed

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

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

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

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

Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR.

Ophthalmology. 1994 Aug;101(8):1409-21.PMID: 8058286 [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

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

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

Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

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

Arch Ophthalmol. 2007 Aug;125(8):1100-6.PMID: 17698758 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

Leroy BP, Kailasanathan A, De Laey JJ, Black GC, Manson FD.

Br J Ophthalmol. 2007 Jan;91(1):89-93. Epub 2006 Aug 17.PMID: 16916875 [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

[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes]

Benítez Del Castillo JM, Trujillo MJ, Del Río T, García B, Ayuso C, García Sánchez J.

Arch Soc Esp Oftalmol. 2000 Apr;75(4):281-6. Spanish. PMID: 11151159 [PubMed - indexed for MEDLINE]Related articlesFree article

Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.

Fishman GA, Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS.

Ophthalmology. 1997 Feb;104(2):299-306.PMID: 9052636 [PubMed - indexed for MEDLINE]Related articles

Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).

Schatz P, Abrahamson M, Eksandh L, Ponjavic V, Andréasson S.

Acta Ophthalmol Scand. 2003 Oct;81(5):500-7.PMID: 14510799 [PubMed - indexed for MEDLINE]Related articles

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E.

Br J Ophthalmol. 1995 Jan;79(1):28-34.PMID: 7880786 [PubMed - indexed for MEDLINE]Related articlesFree article

Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.

Simonelli F, Testa F, Marini V, Interlandi E, Rossi S, Pognuz DR, Virgili G, Garrè C, Bandello F.

Ophthalmic Res. 2007;39(5):255-9. Epub 2007 Sep 12.PMID: 17851265 [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