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Items: 1 to 20 of 53

1.
AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration
David Li, Chongfei Jin, Xiaodong Jiao, Lin Li, Tahmina Bushra, Muhammad Asif Naeem, Nadeem H. Butt, Tayyab Husnain, Paul A. Sieving, Sheikh Riazuddin, S. Amer Riazuddin, J. Fielding Hejtmancik
Mol Vis. 2014; 20: 1–14. Published online 2014 Jan 6.
PMCID:
PMC3888496
AbstractArticlePDF–4.4M
2.
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management
Malena Daich Varela, Giovanni Marco Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Viet Tran, Michel Michaelides
Ophthalmology. 2023 Dec; 130(12): 1327–1335. doi: 10.1016/j.ophtha.2023.07.027
PMCID:
PMC10937259
AbstractArticlePDF–1.4M
3.
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency
Lizhu Yang, Kaoru Fujinami, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Mineo Kondo, Atsushi Mizota, Nobuhisa Naoi, Kei Shinoda, Shuhei Kameya, Yu Fujinami-Yokokawa, Xiao Liu, Gavin Arno, Nikolas Pontikos, Taro Kominami, Hiroko Terasaki, Hiroyuki Sakuramoto, Satoshi Katagiri, Kei Mizobuchi, Natsuko Nakamura, Go Mawatari, Toshihide Kurihara, Kazuo Tsubota, Yozo Miyake, Kazutoshi Yoshitake, Takeshi Iwata, Kazushige Tsunoda, JEGC study group
Sci Rep. 2020; 10: 5497. Published online 2020 Mar 26. doi: 10.1038/s41598-020-62119-3
PMCID:
PMC7099090
AbstractArticlePDF–1.5M
4.
Neural correlates of visual search in patients with hereditary retinal dystrophies
Tina Plank, Jozef Frolo, Fatima Farzana, Sabine Brandl‐Rühle, Agnes B. Renner, Mark W. Greenlee
Hum Brain Mapp. 2013 Oct; 34(10): 2607–2623. Published online 2012 Apr 16. doi: 10.1002/hbm.22088
PMCID:
PMC6870079
AbstractArticlePDF–1.1M
5.
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Elise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Int J Mol Sci. 2019 Oct; 20(19): 4854. Published online 2019 Sep 30. doi: 10.3390/ijms20194854
PMCID:
PMC6801687
AbstractArticlePDF–19M
6.
The Mouse Crx 5′-Upstream Transgene Sequence Directs Cell-Specific and Developmentally Regulated Expression in Retinal Photoreceptor Cells
Akiko Furukawa, Chieko Koike, Pia Lippincott, Constance L. Cepko, Takahisa Furukawa
J Neurosci. 2002 Mar 1; 22(5): 1640–1647. doi: 10.1523/JNEUROSCI.22-05-01640.2002
PMCID:
PMC6758905
AbstractArticlePDF–1.0M
7.
Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy
Frederick T. Collison, Gerald A. Fishman, Takayuki Nagasaki, Jana Zernant, J. Jason McAnany, Jason C. Park, Rando Allikmets
Invest Ophthalmol Vis Sci. 2019 May; 60(6): 2347–2356. doi: 10.1167/iovs.19-26993
PMCID:
PMC6538366
AbstractArticlePDF–1.2M
8.
A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis
Jiewen Fu, Lu Ma, Jingliang Cheng, Lisha Yang, Chunli Wei, Shangyi Fu, Hongbin Lv, Rui Chen, Junjiang Fu
J Cell Mol Med. 2018 Nov; 22(11): 5662–5669. Published online 2018 Aug 30. doi: 10.1111/jcmm.13841
PMCID:
PMC6201214
AbstractArticlePDF–968K
9.
GUCY2D Cone–Rod Dystrophy-6 Is a “Phototransduction Disease” Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1
Shinya Sato, Igor V. Peshenko, Elena V. Olshevskaya, Vladimir J. Kefalov, Alexander M. Dizhoor
J Neurosci. 2018 Mar 21; 38(12): 2990–3000. doi: 10.1523/JNEUROSCI.2985-17.2018
PMCID:
PMC5864148
AbstractArticlePDF–2.8M
10.
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark
Marianne N. Hove, Kevser Z. Kilic-Biyik, Alana Trotter, Karen Grønskov, Birgit Sander, Michael Larsen, Joseph Carroll, Torben Bech-Hansen, Thomas Rosenberg
Invest Ophthalmol Vis Sci. 2016 Dec; 57(15): 6861–6869. doi: 10.1167/iovs.16-19445
PMCID:
PMC5215230
AbstractArticlePDF–1.1M
11.
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies
Maho Oishi, Akio Oishi, Norimoto Gotoh, Ken Ogino, Koichiro Higasa, Kei Iida, Yukiko Makiyama, Satoshi Morooka, Fumihiko Matsuda, Nagahisa Yoshimura
Mol Vis. 2016; 22: 150–160. Published online 2016 Feb 20.
PMCID:
PMC4764614
AbstractArticlePDF–2.3M
12.
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy
Osnat Eidinger, Rina Leibu, Hadas Newman, Leah Rizel, Ido Perlman, Tamar Ben-Yosef
Mol Vis. 2015; 21: 1295–1306. Published online 2015 Dec 8.
PMCID:
PMC4676936
AbstractArticlePDF–3.4M
13.
Effect of Reduced Retinal VLC-PUFA on Rod and Cone Photoreceptors
Lea D. Bennett, Richard S. Brush, Michael Chan, Todd A. Lydic, Kristen Reese, Gavin E. Reid, Julia V. Busik, Michael H. Elliott, Robert E. Anderson
Invest Ophthalmol Vis Sci. 2014 May; 55(5): 3150–3157. Published online 2014 May 19. doi: 10.1167/iovs.14-13995
PMCID:
PMC4027810
AbstractArticlePDF–639K
14.
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
Erin Zampaglione, Benyam Kinde, Emily M. Place, Daniel Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J. Alex Mazzone, Caitlin Finn, Dana Schlegel, Jason Comander, Eric A. Pierce, Kinga M. Bujakowska
Genet Med. 2020; 22(6): 1079–1087. Published online 2020 Feb 10. doi: 10.1038/s41436-020-0759-8
PMCID:
PMC7272325
AbstractArticlePDF–1.6M
15.
Mutations in RD3 Are Associated with an Extremely Rare and Severe Form of Early Onset Retinal Dystrophy
Markus N. Preising, Nora Hausotter-Will, Manuel C. Solbach, Christoph Friedburg, Franz Rüschendorf, Birgit Lorenz
Invest Ophthalmol Vis Sci. 2012 Jun; 53(7): 3463–3472. Published online 2012 Jun 8. doi: 10.1167/iovs.12-9519
PMCID:
PMC3390007
AbstractArticlePDF–787K
16.
Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency
Marija Mihelec, Rachael A. Pearson, Scott J. Robbie, Prateek K. Buch, Selina A. Azam, James W.B. Bainbridge, Alexander J. Smith, Robin R. Ali
Hum Gene Ther. 2011 Oct; 22(10): 1179–1190. Published online 2011 Jun 14. doi: 10.1089/hum.2011.069
PMCID:
PMC3205803
AbstractArticlePDF–1.2M
17.
Clinical course of cone dystrophy caused by mutations in the RPGR gene
Alberta A. H. J. Thiadens, Gyan G. Soerjoesing, Ralph J. Florijn, A. G. Tjiam, Anneke I. den Hollander, L. Ingeborgh van den Born, Frans C. Riemslag, Arthur A. B. Bergen, Caroline C. W. Klaver
Graefes Arch Clin Exp Ophthalmol. 2011; 249(10): 1527–1535. Published online 2011 Aug 25. doi: 10.1007/s00417-011-1789-3
PMCID:
PMC3178018
AbstractArticlePDF–701K
18.
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
Gaël Manes, Maxime Hebrard, Béatrice Bocquet, Isabelle Meunier, Delphine Coustes-Chazalette, Audrey Sénéchal, Anne Bolland-Augé, Diana Zelenika, Christian P Hamel
BMC Med Genet. 2011; 12: 54. Published online 2011 Apr 15. doi: 10.1186/1471-2350-12-54
PMCID:
PMC3102607
AbstractArticlePDF–1.1M
19.
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies
Maria Garcia-Hoyos, Carmen Laura Auz-Alexandre, Berta Almoguera, Diego Cantalapiedra, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Ascension Gimenez, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Maria Jose Trujillo-Tiebas, Blanca Garcia-Sandoval, Carmen Ramos, Carmen Ayuso
Mol Vis. 2011; 17: 1103–1109. Published online 2011 Apr 29.
PMCID:
PMC3087450
AbstractArticlePDF–682K
20.
Peripapillary Retinal Nerve Fiber Layer Thinning in Patients With Autosomal Recessive Cone-Rod Dystrophy
SIRICHAI PASADHIKA, GERALD A. FISHMAN, RANDO ALLIKMETS, EDWIN M. STONE
Am J Ophthalmol. Author manuscript; available in PMC 2010 Nov 9.
Published in final edited form as: Am J Ophthalmol. 2009 Aug; 148(2): 260–265.e1. Published online 2009 May 5. doi: 10.1016/j.ajo.2009.03.001
PMCID:
PMC2976650
AbstractArticlePDF–108K

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