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Results: 1 to 20 of 151

1.

Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).

Soumplis V, Sergouniotis PI, Robson AG, Michaelides M, Moore AT, Holder GE, Webster AR.

Acta Ophthalmol. 2013 May;91(3):e191-5. doi: 10.1111/aos.12010. Epub 2013 Jan 7.

PMID:
23289492
[PubMed - indexed for MEDLINE]
2.

The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.

Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E.

Retina. 2012 Sep;32(8):1643-51. doi: 10.1097/IAE.0b013e318240a574.

PMID:
22277927
[PubMed - indexed for MEDLINE]
3.

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. doi: 10.1016/j.ophtha.2008.12.019. Epub 2009 Feb 25.

PMID:
19243827
[PubMed - indexed for MEDLINE]
4.

Hyperautofluorescent ring in autoimmune retinopathy.

Lima LH, Greenberg JP, Greenstein VC, Smith RT, Sallum JM, Thirkill C, Yannuzzi LA, Tsang SH.

Retina. 2012 Jul;32(7):1385-94. doi: 10.1097/IAE.0b013e3182398107.

PMID:
22218149
[PubMed - indexed for MEDLINE]
5.

Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.

Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A.

Invest Ophthalmol Vis Sci. 2011 Mar 1;52(3):1557-66. doi: 10.1167/iovs.10-6549.

PMID:
21071739
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Multimodal fundus imaging in Best vitelliform macular dystrophy.

Ferrara DC, Costa RA, Tsang S, Calucci D, Jorge R, Freund KB.

Graefes Arch Clin Exp Ophthalmol. 2010 Oct;248(10):1377-86. doi: 10.1007/s00417-010-1381-2. Epub 2010 Apr 23.

PMID:
20414784
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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]
8.

Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography.

Cho SC, Woo SJ, Park KH, Hwang JM.

Korean J Ophthalmol. 2013 Feb;27(1):19-27. doi: 10.3341/kjo.2013.27.1.19. Epub 2013 Jan 15.

PMID:
23372375
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography.

Park SJ, Woo SJ, Park KH, Hwang JM, Chung H.

Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3673-9. doi: 10.1167/iovs.09-4169. Epub 2010 Feb 17.

PMID:
20164460
[PubMed - indexed for MEDLINE]
Free Article
10.

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT.

Br J Ophthalmol. 2012 Feb;96(2):213-7. doi: 10.1136/bjo.2011.203638. Epub 2011 May 10.

PMID:
21558291
[PubMed - indexed for MEDLINE]
11.

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.

Ophthalmology. 2007 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.

PMID:
17320181
[PubMed - indexed for MEDLINE]
12.

Analysis of retinal flecks in fundus flavimaculatus using high-definition spectral-domain optical coherence tomography.

Voigt M, Querques G, Atmani K, Leveziel N, Massamba N, Puche N, Bouzitou-Mfoumou R, Souied EH.

Am J Ophthalmol. 2010 Sep;150(3):330-7. doi: 10.1016/j.ajo.2010.04.001. Epub 2010 Jun 25.

PMID:
20579629
[PubMed - indexed for MEDLINE]
13.

Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).

Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H.

Optom Vis Sci. 2012 May;89(5):684-91. doi: 10.1097/OPX.0b013e31824eea32.

PMID:
22504327
[PubMed - indexed for MEDLINE]
14.

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.

Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5944-54. doi: 10.1167/iovs.09-3982. Epub 2009 Jul 2.

PMID:
19578027
[PubMed - indexed for MEDLINE]
Free Article
15.

Retinal fluorescein and indocyanine green angiography and spectral-domain optical coherence tomography findings in acute retinal pigment epitheliitis.

Baillif S, Wolff B, Paoli V, Gastaud P, Mauget-Faÿsse M.

Retina. 2011 Jun;31(6):1156-63. doi: 10.1097/IAE.0b013e3181fbcea5.

PMID:
21293312
[PubMed - indexed for MEDLINE]
16.

Sveinsson chorioretinal atrophy: the mildest changes are located in the photoreceptor outer segment/retinal pigment epithelium junction.

Jonasson F, Sander B, Eysteinsson T, Jörgensen T, Klintworth GK.

Acta Ophthalmol Scand. 2007 Dec;85(8):862-7. Epub 2007 Aug 7.

PMID:
17683515
[PubMed - indexed for MEDLINE]
17.

Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.

Wang NK, Chuang LH, Lai CC, Chou CL, Chu HY, Yeung L, Chen YP, Chen KJ, Wu WC, Chen TL, Chao AN, Hwang YS.

Doc Ophthalmol. 2012 Aug;125(1):51-62. doi: 10.1007/s10633-012-9336-z. Epub 2012 Jun 6. Review.

PMID:
22669287
[PubMed - indexed for MEDLINE]
18.

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. doi: 10.1016/j.ajo.2008.09.007. Epub 2008 Nov 26.

PMID:
19038374
[PubMed - indexed for MEDLINE]
19.

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR.

Ophthalmology. 2005 Aug;112(8):1442-7.

PMID:
15953638
[PubMed - indexed for MEDLINE]
20.

Macular dystrophy in Heimler syndrome.

Lima LH, Barbazetto IA, Chen R, Yannuzzi LA, Tsang SH, Spaide RF.

Ophthalmic Genet. 2011 Jun;32(2):97-100. doi: 10.3109/13816810.2010.551797. Epub 2011 Mar 2.

PMID:
21366429
[PubMed - indexed for MEDLINE]
Free PMC Article

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