PMC Articles for MedGen (Select 416519) - PMC

Links from MedGen

Items: 1 to 20 of 90

<< First< Prev

Page of 5

Select item 111494571.

Elaborate Evaluation of Farnsworth Dichotomous D-15 Panel Test Can Help Differentiate between Best Vitelliform Macular Dystrophy and Autosomal Recessive Bestrophinopathy

Katarzyna Nowomiejska, Fadi Nasser, Agnieszka Brzozowska, Robert Rejdak, Eberhart Zrenner

Ophthalmic Res. Author manuscript; available in PMC 2024 Jun 4.

Published in final edited form as: Ophthalmic Res. 2023; 66(1): 481–488. Published online 2023 Jan 12. doi: 10.1159/000528615

PMCID:: PMC11149457

Abstract Article PDF–551K

Select item 109372592.

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

Abstract Article PDF–1.4M

Select item 106686133.

Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis

Mohamad Sobh, Pamela S. Lagali, Maryam Ghiasi, Joshua Montroy, Michael Dollin, Bernard Hurley, Brian C. Leonard, Ioannis Dimopoulos, Mackenzie Lafreniere, Dean A. Fergusson, Manoj M. Lalu, Catherine Tsilfidis

Transl Vis Sci Technol. 2023 Nov; 12(11): 24. Published online 2023 Nov 20. doi: 10.1167/tvst.12.11.24

PMCID:: PMC10668613

Abstract Article PDF–2.4M

Select item 106071664.

Prevalence of Congenital Color Vision Deficiency in Southern Taiwan and Detection of Female Carriers by Visual Pigment Gene Analysis

Hsi-Kung Kuo, Shih-Ting Tsao, Pei-Chang Wu

Int J Mol Sci. 2023 Oct; 24(20): 15247. Published online 2023 Oct 17. doi: 10.3390/ijms242015247

PMCID:: PMC10607166

Abstract Article PDF–794K

Select item 101486635.

Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism

Yingwei Wang, Wenmin Sun, Xueshan Xiao, Yi Jiang, Jiamin Ouyang, Junwen Wang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang

Invest Ophthalmol Vis Sci. 2023 Apr; 64(4): 29. Published online 2023 Apr 25. doi: 10.1167/iovs.64.4.29

PMCID:: PMC10148663

Abstract Article PDF–6.5M

Select item 99575376.

Clinical and Genetic Features of Korean Patients with Achromatopsia

Yong Je Choi, Kwangsic Joo, Hyun Taek Lim, Sung Soo Kim, Jinu Han, Se Joon Woo

Genes (Basel) 2023 Feb; 14(2): 519. Published online 2023 Feb 18. doi: 10.3390/genes14020519

PMCID:: PMC9957537

Abstract Article PDF–2.3M

Select item 97895267.

Quantitative and Qualitative Characterization of Retinal Dystrophies in Canine Models of Inherited Retinal Diseases Using Spectral Domain Optical Coherence Tomography (SD-OCT)

Shin Ae Park, Jamie Rhodes, Simone Iwabe, Gui-Shuang Ying, Wei Pan, Jiayan Huang, András M. Komáromy

Exp Eye Res. Author manuscript; available in PMC 2023 Jul 1.

Published in final edited form as: Exp Eye Res. 2022 Jul; 220: 109106. Published online 2022 May 16. doi: 10.1016/j.exer.2022.109106

PMCID:: PMC9789526

Abstract Article PDF–2.0M

Select item 96148658.

The limitation of standard pseudo-isochromatic plates in identifying colour vision deficiencies when compared with genetic testing

Solveig Arnegard, Rigmor C. Baraas, Jay Neitz, Lene A. Hagen, Maureen Neitz

Acta Ophthalmol. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: Acta Ophthalmol. 2022 Nov; 100(7): 805–812. Published online 2022 Feb 3. doi: 10.1111/aos.15103

PMCID:: PMC9614865

Abstract Article PDF–632K

Select item 93636769.

Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia

Magdalini Triantafylla, Eleni Papageorgiou, Mervyn G. Thomas, Rebecca McLean, Susanne Kohl, Viral Sheth, Zhanhan Tu, Frank A. Proudlock, Irene Gottlob

Invest Ophthalmol Vis Sci. 2022 Aug; 63(9): 6. Published online 2022 Aug 5. doi: 10.1167/iovs.63.9.6

PMCID:: PMC9363676

Abstract Article PDF–1.8M

Select item 934739110.

Gene Therapy in Opn1mw^−/−/Opn1sw^−/− Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations

Xiajie Ma, Emily R. Sechrest, Diego Fajardo, Ping Zhu, Frank Dyka, Yixiao Wang, Ekaterina Lobanova, Shannon E. Boye, Wolfgang Baehr, Wen-Tao Deng

Hum Gene Ther. July 2022; 33(13-14): 708–718. Published online 2022 Jul 13. doi: 10.1089/hum.2021.298

PMCID:: PMC9347391

Abstract Article PDF–1.3M

Select item 934124011.

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study

Helen J Kuht, Gail DE Maconachie, Jinu Han, Line Kessel, Maria M van Genderen, Rebecca J McLean, Michael Hisaund, Zhanhan Tu, Richard W Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K Chen, Rachael C Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C Engle, Frank A Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G Thomas

Ophthalmology. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Ophthalmology. 2022 Jun; 129(6): 708–718. Published online 2022 Feb 11. doi: 10.1016/j.ophtha.2022.02.010

PMCID:: PMC9341240

Abstract Article PDF–816K

Select item 922473912.

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger

Int J Mol Sci. 2022 Jun; 23(12): 6868. Published online 2022 Jun 20. doi: 10.3390/ijms23126868

PMCID:: PMC9224739

Abstract Article PDF–1.7M

Select item 920639313.

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Katie M. Williams, Michalis Georgiou, Angelos Kalitzeos, Isabelle Chow, Pirro G. Hysi, Anthony G. Robson, Gareth Lingham, Fred K. Chen, David A. Mackey, Andrew R. Webster, Christopher J. Hammond, Polina Prokhoda, Joseph Carroll, Michel Michaelides, Omar A. Mahroo

Invest Ophthalmol Vis Sci. 2022 Jun; 63(6): 15. Published online 2022 Jun 15. doi: 10.1167/iovs.63.6.15

PMCID:: PMC9206393

Abstract Article PDF–2.0M

Select item 903312514.

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Julia Zhu, Kirk A. J. Stephenson, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, Susan Fitzsimon, G. Jane Farrar, D. Ian Flitcroft, David J. Keegan

Genes (Basel) 2022 Apr; 13(4): 615. Published online 2022 Mar 29. doi: 10.3390/genes13040615

PMCID:: PMC9033125

Abstract Article PDF–620K

Select item 894245315.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

Samer Khateb, Aya Shemesh, Ashly Offenheim, Ruth Sheffer, Tamar Ben-Yosef, Itay Chowers, Rina Leibu, Britta Baumann, Bernd Wissinger, Susanne Kohl, Eyal Banin, Dror Sharon

Mol Vis. 2022; 28: 21–28. Published online 2022 Feb 22.

PMCID:: PMC8942453

Abstract Article PDF–1.8M

Select item 888876116.

Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel

Xiangdong Zheng, Huan Li, Zhengshan Hu, Deyuan Su, Jian Yang

Commun Biol. 2022; 5: 190. Published online 2022 Mar 1. doi: 10.1038/s42003-022-03120-6

PMCID:: PMC8888761

Abstract Article PDF–4.8M

Select item 862051917.

CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle

Irene M. Häfliger, Emma Marchionatti, Michele Stengård, Sonja Wolf-Hofstetter, Julia M. Paris, Joana G. P. Jacinto, Christine Watté, Katrin Voelter, Laurence M. Occelli, András M. Komáromy, Anna Oevermann, Christine Goepfert, Angelica Borgo, Raphaël Roduit, Mirjam Spengeler, Franz R. Seefried, Cord Drögemüller

Int J Mol Sci. 2021 Nov; 22(22): 12440. Published online 2021 Nov 18. doi: 10.3390/ijms222212440

PMCID:: PMC8620519

Abstract Article PDF–2.8M

Select item 847798718.

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

Hamzah Aweidah, Manar Salameh, Claudia Yahalom, Anat Blumenfeld, Michal Macarov, Nicole Weisschuh, Susanne Kohl, Eyal Banin, Dror Sharon

Mol Vis. 2021; 27: 588–600. Published online 2021 Sep 22.

PMCID:: PMC8477987

Abstract Article PDF–1.0M

Select item 829122119.

Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy

Jin Kyun Oh, Joseph Ryu, Jose Ronaldo Lima de Carvalho, Jr, Sarah R. Levi, Winston Lee, Emmanouil Tsamis, Vivienne C. Greenstein, Vinit B. Mahajan, Rando Allikmets, Stephen H. Tsang

Am J Ophthalmol. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Am J Ophthalmol. 2020 Oct; 218: 40–53. Published online 2020 May 21. doi: 10.1016/j.ajo.2020.05.016

PMCID:: PMC8291221

Abstract Article PDF–1.8M

Select item 828679920.

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

Anna M. Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jabłońska, Małgorzata Rydzanicz, Piotr Stawiński, Elżbieta Ciara, Beata S. Lipska-Ziętkiewicz, Muhammad Imran Khan, Frans P.M. Cremers, Rafał Płoski, Krystyna H. Chrzanowska

Mol Vis. 2021; 27: 457–465. Published online 2021 Jul 16.

PMCID:: PMC8286799

Abstract Article PDF–1.0M

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 90

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity