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Select item 97918611.

Gene therapy in hereditary retinal dystrophy

Jia-Ying Chien, Shun-Ping Huang

Tzu Chi Med J. 2022 Oct-Dec; 34(4): 367–372. Published online 2022 Aug 23. doi: 10.4103/tcmj.tcmj_78_22

PMCID:: PMC9791861

Article PDF–903K

Select item 94219382.

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy

Neslihan Sinim Kahraman, Ayşe Öner, Yusuf Özkul, Munis Dündar

Turk J Ophthalmol. 2022 Aug; 52(4): 270–275. Published online 2022 Aug 25. doi: 10.4274/tjo.galenos.2021.74944

PMCID:: PMC9421938

Article PDF–706K

Select item 89959473.

Prevalence and associated relating factors in patients with hereditary retinal dystrophy: a nationwide population-based study in Taiwan

Peng Yeong Woon, Jia-Ying Chien, Jen-Hung Wang, Yu-Yau Chou, Mei-Chen Lin, Shun-Ping Huang

BMJ Open. 2022; 12(4): e054111. Published online 2022 Apr 8. doi: 10.1136/bmjopen-2021-054111

PMCID:: PMC8995947

Article PDF–817K

Select item 41521514.

Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss

Akhila Alapati, Kerry Goetz, John Suk, Mili Navani, Amani Al-Tarouti, Thiran Jayasundera, Santa J. Tumminia, Pauline Lee, Radha Ayyagari

Invest Ophthalmol Vis Sci. 2014 Sep; 55(9): 5510–5521. Published online 2014 Sep 2. doi: 10.1167/iovs.14-14359

PMCID:: PMC4152151

Article PDF–685K

Select item 102367865.

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports

Yi-shuang Xiao, Wen-Ji He, Hong-chao Jiang, Li Tan, Jing Ma, Zhen Zhang

J Med Case Rep. 2023; 17: 226. Published online 2023 Jun 2. doi: 10.1186/s13256-023-03830-3

PMCID:: PMC10236786

Article PDF–1.6M

Select item 93142796.

Retinoschisin and novel Na/K-ATPase interaction partners Kv2.1 and Kv8.2 define a growing protein complex at the inner segments of mammalian photoreceptors

Verena Schmid, Alexander Wurzel, Christian H. Wetzel, Karolina Plössl, Astrid Bruckmann, Patricia Luckner, Bernhard H. F. Weber, Ulrike Friedrich

Cell Mol Life Sci. 2022; 79(8): 448. Published online 2022 Jul 25. doi: 10.1007/s00018-022-04409-9

PMCID:: PMC9314279

Article PDF–5.7M

Select item 68700797.

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

Article PDF–1.1M

Select item 64973088.

Identification of the retinoschisin-binding site on the retinal Na/K-ATPase

Karolina Plössl, Kristina Straub, Verena Schmid, Franziska Strunz, Jens Wild, Rainer Merkl, Bernhard H. F. Weber, Ulrike Friedrich

PLoS One. 2019; 14(5): e0216320. Published online 2019 May 2. doi: 10.1371/journal.pone.0216320

PMCID:: PMC6497308

Article PDF–2.4M

Select item 64376309.

Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice

Smriti Agrawal Zaneveld, Aiden Eblimit, Qingnan Liang, Renae Bertrand, Nathaniel Wu, Hehe Liu, Quynh Nguyen, Jacques Zaneveld, Keqing Wang, Yumei Li, Rui Chen

Hum Gene Ther. 2019 Mar 1; 30(3): 302–315. Published online 2019 Mar 8. doi: 10.1089/hum.2018.078

PMCID:: PMC6437630

Article PDF–1.5M

Select item 616910410.

Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report

Angelo Maria Minnella, Valeria Pagliei, Maria Cristina Savastano, Matteo Federici, Matteo Bertelli, Paolo Enrico Maltese, Giorgio Placidi, Giovanni Corbo, Benedetto Falsini, Aldo Caporossi

J Med Case Rep. 2018; 12: 287. Published online 2018 Oct 3. doi: 10.1186/s13256-018-1819-4

PMCID:: PMC6169104

Article PDF–4.7M

Select item 561081111.

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis

Jinu Han, John Hoon Rim, In Sik Hwang, Jieun Kim, Saeam Shin, Seung-Tae Lee, Jong Rak Choi

Mol Vis. 2017; 23: 649–659. Published online 2017 Sep 20.

PMCID:: PMC5610811

Article PDF–1.1M

Select item 553173412.

Retinoschisin is linked to retinal Na/K-ATPase signaling and localization

Karolina Plössl, Melanie Royer, Sarah Bernklau, Neslihan N. Tavraz, Thomas Friedrich, Jens Wild, Bernhard H. F. Weber, Ulrike Friedrich

Mol Biol Cell. 2017 Aug 1; 28(16): 2178–2189. doi: 10.1091/mbc.E17-01-0064

PMCID:: PMC5531734

Article PDF–1.6M

Select item 449869513.

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Wei Xin, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang

PLoS One. 2015; 10(7): e0132635. Published online 2015 Jul 10. doi: 10.1371/journal.pone.0132635

PMCID:: PMC4498695

Article PDF–1.2M

Select item 441558814.

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing

Yan Xu, Liping Guan, Xueshan Xiao, Jianguo Zhang, Shiqiang Li, Hui Jiang, Xiaoyun Jia, Jianhua Yang, Xiangming Guo, Ye Yin, Jun Wang, Qingjiong Zhang

Mol Vis. 2015; 21: 477–486. Published online 2015 Apr 28.

PMCID:: PMC4415588

Article PDF–2.3M

Select item 309434615.

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik

PLoS One. 2011; 6(5): e19458. Published online 2011 May 13. doi: 10.1371/journal.pone.0019458

PMCID:: PMC3094346

Article PDF–100K

Select item 168459716.

Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

R L Nussbaum, R A Lewis, J G Lesko, R Ferrell

Am J Hum Genet. 1985 May; 37(3): 473–481.

PMCID:: PMC1684597

Summary Page Browse PDF–1.0M

Select item 1060179717.

Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation

Ágnes Jánossy, Eszter Vizvári, Máté Lőrincz, Szilvia Pál, Dóra Nagy, György Benedek, Edit Tóth-Molnár, Márta Janáky

Case Rep Ophthalmol. 2023 Jan-Dec; 14(1): 454–461. Published online 2023 Sep 19. doi: 10.1159/000530086

PMCID:: PMC10601797

Article PDF–792K

Select item 998225118.

Diffuse Pigmented Lesions in the Outer Retina: An Unusual Fundus Appearance

Matthew D. Benson, Uriel Rubin, Marvi Cheema, Ian M. MacDonald, Matthew T.S. Tennant, Brad J. Hinz, Rizwan Somani

J Vitreoretin Dis. 2020 Jun; 4(3): 243–247. Published online 2019 Oct 16. doi: 10.1177/2474126419873547

PMCID:: PMC9982251

Article PDF–440K

Select item 819885419.

Visual Outcome after Intravitreal Anti-VEGF Therapy for Macular Neovascularisation Secondary to Sorsby’s Fundus Dystrophy: A Systematic Review

Arthur Baston, Christin Gerhardt, Souska Zandi, Justus G. Garweg

J Clin Med. 2021 Jun; 10(11): 2433. Published online 2021 May 30. doi: 10.3390/jcm10112433

PMCID:: PMC8198854

Article PDF–2.7M

Select item 585256420.

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

Karin W. Littink, Patricia T. Y. Stappers, Frans C. C. Riemslag, Herman E. Talsma, Maria M. van Genderen, Frans P. M. Cremers, Rob W. J. Collin, L. Ingeborgh van den Born

Genes (Basel) 2018 Feb; 9(2): 68. Published online 2018 Jan 30. doi: 10.3390/genes9020068