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Select item 113479571.

Cataract surgery in retinitis pigmentosa

Omer Karti, Ali Osman Saatci

Med Hypothesis Discov Innov Ophthalmol. 2024 Summer; 13(2): 96–103. Published online 2024 Aug 14. doi: 10.51329/mehdiophthal1500

PMCID:: PMC11347957

Article PDF–1.3M

Select item 110789722.

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein

Sci Rep. 2024; 14: 10551. Published online 2024 May 8. doi: 10.1038/s41598-024-61019-0

PMCID:: PMC11078972

Article PDF–2.3M

Select item 106017973.

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 102367864.

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 99822515.

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 97918616.

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 94219387.

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 93142798.

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

PMCID:: PMC9314279

Article PDF–5.7M

Select item 89959479.

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 819885410.

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 687007911.

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 649730812.

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 643763013.

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 617521314.

Visual Evoked Potential Recovery by Subretinal Implantation of Photoelectric Dye‐Coupled Thin Film Retinal Prosthesis in Monkey Eyes With Macular Degeneration

Toshihiko Matsuo, Tetsuya Uchida, Jun Sakurai, Koichiro Yamashita, Chie Matsuo, Tomoaki Araki, Yusuke Yamashita, Kunihisa Kamikawa

Artif Organs. 2018 Aug; 42(8): E186–E203. Published online 2018 Apr 6. doi: 10.1111/aor.13120

PMCID:: PMC6175213

Article PDF–1.3M

Select item 616910415.

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 585256416.

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