PMC Articles for MedGen (Select 892617) - PMC

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 93412402.

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 65943183.

Characterization of Retinal Structure in ATF6-Associated Achromatopsia

Rebecca R. Mastey, Michalis Georgiou, Christopher S. Langlo, Angelos Kalitzeos, Emily J. Patterson, Thomas Kane, Navjit Singh, Ajoy Vincent, Anthony T. Moore, Stephen H. Tsang, Jonathan H. Lin, Marielle P. Young, M. Elizabeth Hartnett, Elise Héon, Susanne Kohl, Michel Michaelides, Joseph Carroll

Invest Ophthalmol Vis Sci. 2019 Jun; 60(7): 2631–2640. doi: 10.1167/iovs.19-27047

PMCID:: PMC6594318

Abstract Article PDF–1.4M

Select item 65164614.

Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration

Daniela Ferrara, Johanna M. Seddon

JAMA Ophthalmol. Author manuscript; available in PMC 2019 May 14.

Published in final edited form as: JAMA Ophthalmol. 2015 Jul; 133(7): 785–791. doi: 10.1001/jamaophthalmol.2015.0814

PMCID:: PMC6516461

Abstract Article PDF–943K

Select item 58735175.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

Nashila Hirji, Patrick D. Bradley, Shuning Li, Ajoy Vincent, Mark E. Pennesi, Akshay S. Thomas, Elise Heon, Aparna Bhan, Omar A. Mahroo, Anthony Robson, Chris F. Inglehearn, Anthony T. Moore, Michel Michaelides

Am J Ophthalmol. 2018 Apr; 188: 123–130. doi: 10.1016/j.ajo.2018.01.029

PMCID:: PMC5873517

Abstract Article PDF–2.1M

Select item 53604536.

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

Miguel de Sousa Dias, Christian P. Hamel, Isabelle Meunier, Juliette Varin, Steven Blanchard, Fiona Boyard, José-Alain Sahel, Christina Zeitz

Mol Vis. 2017; 23: 131–139. Published online 2017 Mar 18.

PMCID:: PMC5360453

Abstract Article PDF–1.4M

Select item 52830897.

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses

Anna Majander, Catarina João, Andrew T. Rider, G. Bruce Henning, Marcela Votruba, Anthony T. Moore, Patrick Yu-Wai-Man, Andrew Stockman

Invest Ophthalmol Vis Sci. 2017 Jan; 58(1): 502–516. doi: 10.1167/iovs.16-20309

PMCID:: PMC5283089

Abstract Article PDF–1.5M

Select item 45832688.

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment

Naoto Tanaka, Emily V. Dutrow, Keiko Miyadera, Lucie Delemotte, Christopher M. MacDermaid, Shelby L. Reinstein, William R. Crumley, Christopher J. Dixon, Margret L. Casal, Michael L. Klein, Gustavo D. Aguirre, Jacqueline C. Tanaka, Karina E. Guziewicz

PLoS One. 2015; 10(9): e0138943. Published online 2015 Sep 25. doi: 10.1371/journal.pone.0138943

PMCID:: PMC4583268

Abstract Article PDF–8.3M

Select item 44237549.

Spectral-Domain Optical Coherence Tomography Staging and Autofluorescence Imaging in Achromatopsia

Jonathan P. Greenberg, Jerome Sherman, Sandrine A. Zweifel, Royce W. S. Chen, Tobias Duncker, Susanne Kohl, Britta Baumann, Bernd Wissinger, Lawrence A. Yannuzzi, Stephen H. Tsang

JAMA Ophthalmol. Author manuscript; available in PMC 2015 May 7.

Published in final edited form as: JAMA Ophthalmol. 2014 Apr 1; 132(4): 437–445. doi: 10.1001/jamaophthalmol.2013.7987