PMC Articles for MedGen (Select 383691) - PMC

Tomas R. Burke, David W. Rhee, R. Theodore Smith, Stephen H. Tsang, Rando Allikmets, Stanley Chang, Margot A. Lazow, Donald C. Hood, Vivienne C. Greenstein

Invest Ophthalmol Vis Sci. 2011 Oct; 52(11): 8006–8015. Published online 2011 Oct 8. doi: 10.1167/iovs.11-7693

PMCID:: PMC3220414

Abstract Article PDF–2.9M

Select item 73168154.

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

Jane S. Green, Darren D. O’Rielly, Justin A. Pater, Jim Houston, Hoda Rajabi, Dante Galutira, Tammy Benteau, Amy Sheaves, Nelly Abdelfatah, Donna Bautista, Jim Whelan, Terry-Lynn Young

Eur J Hum Genet. 2020 Jul; 28(7): 925–937. Published online 2020 May 28. doi: 10.1038/s41431-020-0581-4

PMCID:: PMC7316815

Abstract Article PDF–1.8M

Select item 43636305.

Intravitreal Aflibercept Injection and Photodynamic Treatment of a Patient with Unilateral Subretinal Neovascular Membrane Associated with Fundus Flavimaculatus

Ali Osman Saatci, Ziya Ayhan, Bora Yüksel, Göktuğ Seymenoğlu, Seenu M. Hariprasad

Case Rep Ophthalmol Med. 2015; 2015: 748420. Published online 2015 Mar 2. doi: 10.1155/2015/748420

PMCID:: PMC4363630

Abstract Article PDF–3.6M

Select item 35680336.

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Ivana Peluso, Ivan Conte, Francesco Testa, Gopuraja Dharmalingam, Mariateresa Pizzo, Rob WJ Collin, Nicola Meola, Sara Barbato, Margherita Mutarelli, Carmela Ziviello, Anna Maria Barbarulo, Vincenzo Nigro, Mariarosa AB Melone, Francesca Simonelli, Sandro Banfi

Orphanet J Rare Dis. 2013; 8: 16. Published online 2013 Jan 28. doi: 10.1186/1750-1172-8-16

PMCID:: PMC3568033

Abstract Article PDF–2.3M

Select item 101373607.

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population

Shutong Yi, Yuxi Zheng, Zhen Yi, Yingwei Wang, Yi Jiang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

Genes (Basel) 2023 Apr; 14(4): 952. Published online 2023 Apr 21. doi: 10.3390/genes14040952

PMCID:: PMC10137360

Abstract Article PDF–5.4M

Select item 99991668.

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens

Mol Ther Nucleic Acids. 2023 Mar 14; 31: 674–688. Published online 2023 Feb 18. doi: 10.1016/j.omtn.2023.02.020

PMCID:: PMC9999166

Abstract Article PDF–1.9M

Select item 89617509.

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials

Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides

Br J Ophthalmol. 2022 Apr; 106(4): 445–451. Published online 2021 Mar 12. doi: 10.1136/bjophthalmol-2020-318483

PMCID:: PMC8961750

Abstract Article PDF–461K

Select item 990432810.

Repeatability of Quantitative Autofluorescence Imaging in a Multicenter Study Involving Patients With Recessive Stargardt Disease 1

Patty P. A. Dhooge, Philipp T. Möller, Nils Meland, Katarina Stingl, Camiel J. F. Boon, Andrew J. Lotery, Maurizio Battaglia Parodi, Philipp Herrmann, Wolfgang Klein, Mario G. Fsadni, Thomas H. Wheeler-Schilling, Frank G. Holz, Carel B. Hoyng, Steffen Schmitz-Valckenberg, for the Soraprazan Consortium

Transl Vis Sci Technol. 2023 Feb; 12(2): 1. Published online 2023 Feb 1. doi: 10.1167/tvst.12.2.1

PMCID:: PMC9904328

Abstract Article PDF–3.2M

Select item 438542711.

Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions

Jacques Zaneveld, Sorath Siddiqui, Huajin Li, Xia Wang, Hui Wang, Keqing Wang, Hui Li, Huanan Ren, Irma Lopez, Allison Dorfman, Ayesha Khan, Feng Wang, Jason Salvo, Violet Gelowani, Yumei Li, Ruifang Sui, Robert Koenekoop, Rui Chen

Genet Med. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Genet Med. 2015 Apr; 17(4): 262–270. Published online 2014 Dec 4. doi: 10.1038/gim.2014.174

PMCID:: PMC4385427

Abstract Article PDF–850K

Select item 209545312.

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

Camiel J F Boon, Mary J van Schooneveld, Anneke I den Hollander, Janneke J C van Lith‐Verhoeven, Marijke N Zonneveld‐Vrieling, Thomas Theelen, Frans P M Cremers, Carel B Hoyng, B Jeroen Klevering

Br J Ophthalmol. 2007 Nov; 91(11): 1504–1511. Published online 2007 May 15. doi: 10.1136/bjo.2007.115659

PMCID:: PMC2095453

Abstract Article PDF–1.7M

Select item 816478913.

Fundus flavimaculatus-like in myotonic dystrophy: a case report

Eric Kirkegaard-Biosca, Mònica Berges-Marti, Brahim Azarfane, Esther Cilveti, Laura Distefano, Jose García-Arumí

BMC Ophthalmol. 2021; 21: 240. Published online 2021 May 29. doi: 10.1186/s12886-021-02002-5

PMCID:: PMC8164789

Abstract Article PDF–3.2M

Select item 277156414.

Lipofuscin & Autofluorescence Metrics in progressive STGD

R.T. Smith, N.L. Gomes, G. Barile, M. Busuioc, N. Lee, A. Laine

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Nov 2.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Aug; 50(8): 3907–3914. Published online 2009 Apr 22. doi: 10.1167/iovs.08-2448

PMCID:: PMC2771564

Abstract Article PDF–2.0M

Select item 361927715.

Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy

Sreemathi Logan, Martin-Paul Agbaga, Michael D. Chan, Nabila Kabir, Nawajes A. Mandal, Richard S. Brush, Robert E. Anderson

Proc Natl Acad Sci U S A. 2013 Apr 2; 110(14): 5446–5451. Published online 2013 Mar 18. doi: 10.1073/pnas.1217251110

PMCID:: PMC3619277

Abstract Article PDF–713K

Select item 280164016.

In vivo visualization of photoreceptor layer and lipofuscin accumulation in stargardt’s disease and fundus flavimaculatus by high resolution spectral-domain optical coherence tomography

Giuseppe Querques, Rosy Prato, Gabriel Coscas, Gisèle Soubrane, Eric H Souied

Clin Ophthalmol. 2009; 3: 693–699. Published online 2009 Dec 29. doi: 10.2147/opth.s7894

PMCID:: PMC2801640

Abstract Article PDF–5.7M

Select item 303304117.

Interactive Image Analysis in Age-related Macular Degeneration (AMD) and Stargardt Disease (STGD)

Prof. R. Theodore Smith, Noah Lee, Jian Chen, Mihai Busuioc, Prof. Andrew F. Laine

Conf Rec Asilomar Conf Signals Syst Comput. Author manuscript; available in PMC 2011 Feb 3.

Published in final edited form as: Conf Rec Asilomar Conf Signals Syst Comput. 2008 Oct 26; 42: 651–654. doi: 10.1109/ACSSC.2008.5074487

PMCID:: PMC3033041

Abstract Article PDF–1.1M

Select item 497701518.

Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy

Rupert W. Strauss, Beatriz Muñoz, Anamika Jha, Alexander Ho, Artur V. Cideciyan, Melissa L. Kasilian, Yulia Wolfson, SriniVas Sadda, Sheila West, Hendrik P.N. Scholl, Michel Michaelides

Am J Ophthalmol. 2016 Aug; 168: 269–278. doi: 10.1016/j.ajo.2016.06.003

PMCID:: PMC4977015

Abstract Article PDF–904K

Select item 494113619.

Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography

Rupert W Strauss, Beatriz Muñoz, Yulia Wolfson, Raafay Sophie, Emily Fletcher, Millena G Bittencourt, Hendrik P N Scholl

Br J Ophthalmol. 2016 Jul; 100(7): 956–962. Published online 2015 Nov 14. doi: 10.1136/bjophthalmol-2015-307035

PMCID:: PMC4941136

Abstract Article PDF–968K

Select item 823264120.

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens

Int J Mol Sci. 2021 Jun; 22(12): 6410. Published online 2021 Jun 15. doi: 10.3390/ijms22126410

PMCID:: PMC8232641

Abstract Article PDF–1.6M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 212

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity