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Select item 56863771.

Potential role of Müller cells in the pathogenesis of macropsia associated with epiretinal membrane: a hypothesis revisited

Ahmet Colakoglu, Solmaz Balci Akar

Int J Ophthalmol. 2017; 10(11): 1759–1767. Published online 2017 Nov 18. doi: 10.18240/ijo.2017.11.19

PMCID:: PMC5686377

Abstract Article PDF–1.1M

Select item 42762972.

Clinicoradiological Correlation of Macropsia due to Acute Stroke: A Case Report and Review of the Literature

Mayra Johana Montalvo, Muhib Alam Khan

Case Rep Neurol Med. 2014; 2014: 272084. Published online 2014 Dec 9. doi: 10.1155/2014/272084

PMCID:: PMC4276297

Abstract Article PDF–630K

Select item 112183533.

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar

BMC Med Genomics. 2024; 17: 173. Published online 2024 Jul 1. doi: 10.1186/s12920-024-01942-3

PMCID:: PMC11218353

Abstract Article PDF–2.9M

Select item 112032764.

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis

Alessandra Mihalich, Gabriella Cammarata, Gemma Tremolada, Emanuela Manfredini, Stefania Bianchi Marzoli, Anna Maria Di Blasio

Genes (Basel) 2024 Jun; 15(6): 766. Published online 2024 Jun 12. doi: 10.3390/genes15060766

PMCID:: PMC11203276

Abstract Article PDF–792K

Select item 112025625.

Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders

Chloe Brotherton, Roly Megaw

Genes (Basel) 2024 Jun; 15(6): 727. Published online 2024 Jun 1. doi: 10.3390/genes15060727

PMCID:: PMC11202562

Abstract Article PDF–2.2M

Select item 111852706.

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

Francesco Testa, Ester Carreño, L. Ingeborgh van den Born, Paolo Melillo, Irene Perea-Romero, Valentina Di Iorio, Giulia Risca, Clemente Maria Iodice, Ronald J. E. Pennings, Marianthi Karali, Sandro Banfi, Alberto Auricchio, Stefania Galimberti, Carmen Ayuso, Francesca Simonelli

Invest Ophthalmol Vis Sci. 2024 Jun; 65(6): 25. Published online 2024 Jun 17. doi: 10.1167/iovs.65.6.25

PMCID:: PMC11185270

Abstract Article PDF–1.6M

Select item 111792097.

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population

Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Chen

Orphanet J Rare Dis. 2024; 19: 238. Published online 2024 Jun 15. doi: 10.1186/s13023-024-03238-2

PMCID:: PMC11179209

Abstract Article PDF–2.0M

Select item 111562068.

Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

Bela Parekh, Jacque L. Duncan, Lassana Samarakoon, Michele Melia, Maria Fernanda Abalem, Chris A. Andrews, Isabelle Audo, Allison R. Ayala, Chris Bradley, Janet K. Cheetham, Gislin Dagnelie, Todd A. Durham, Rachel M. Huckfeldt, Gabrielle D. Lacy, Brett Malbin, Michel Michaelides, David C. Musch, Nicholas Peck-Dimit, Katarina Stingl, Christina Y. Weng, Alex Z. Zmejkoski, K. Thiran Jayasundera, for the Foundation Fighting Blindness Clinical Consortium Investigator Group

Invest Ophthalmol Vis Sci. 2024 Jun; 65(6): 5. Published online 2024 Jun 4. doi: 10.1167/iovs.65.6.5

PMCID:: PMC11156206

Abstract Article PDF–929K

Select item 111494579.

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 1113964610.

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome

Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G. Schlottmann, Gavin Arno, Amjaad N. Abu Shams, Omar A. Mahroo, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Dec; 256: 186–195. doi: 10.1016/j.ajo.2023.06.026

PMCID:: PMC11139646

Abstract Article PDF–1.4M

Select item 1113747111.

Cerebral visual impairment: genetic diagnoses and phenotypic associations

Emogene Shaw, Ian Flitcroft, Richard Bowman, Kate Baker

J Med Genet. 2024 Jun; 61(6): 605–612. Published online 2024 Mar 8. doi: 10.1136/jmg-2023-109670

PMCID:: PMC11137471

Abstract Article PDF–1.2M

Select item 1112067012.

CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction

Jef Driesen, Helen Van Hoecke, Leen Maes, Sandra Janssens, Frederic Acke, Els De Leenheer

Genes (Basel) 2024 May; 15(5): 643. Published online 2024 May 19. doi: 10.3390/genes15050643

PMCID:: PMC11120670

Abstract Article PDF–3.1M

Select item 1111615413.

儿童轻中度感音神经性听力损失的遗传特征分析

周睿, 关静, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 18–22. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.003

PMCID:: PMC11116154

Abstract Article PDF–683K

Select item 1111466414.

Immunological aspects of 22q11.2 deletion syndrome

A. R. Gennery

Cell Mol Life Sci. 2012 Jan; 69(1): 17–27. Published online 2011 Oct 9. doi: 10.1007/s00018-011-0842-z

PMCID:: PMC11114664

Abstract Article PDF–297K

Select item 1111376415.

The role of genetics in the establishment and maintenance of the epigenome

Covadonga Huidobro, Agustin F. Fernandez, Mario F. Fraga

Cell Mol Life Sci. 2013 May; 70(9): 1543–1573. Published online 2013 Mar 10. doi: 10.1007/s00018-013-1296-2

PMCID:: PMC11113764

Abstract Article PDF–1.6M

Select item 1110614816.

Genetic profile of syndromic retinitis pigmentosa in Portugal

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Marta, Lilianne Duarte, Vitor Miranda, José Costa, Ana Berta Sousa, Virginie G. Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques

Graefes Arch Clin Exp Ophthalmol. 2024; 262(6): 1883–1897. Published online 2024 Jan 8. doi: 10.1007/s00417-023-06360-2

PMCID:: PMC11106148

Abstract Article PDF–1.5M

Select item 1106214617.

AAV-mediated gene therapies for glaucoma and uveitis: are we there yet?

Brenda Castro, Jason C. Steel, Christopher J. Layton

Expert Rev Mol Med. 2024; 26: e9. Published online 2024 Apr 15. doi: 10.1017/erm.2024.4

PMCID:: PMC11062146

Abstract Article PDF–541K

Select item 1105012718.

Syndromic Retinitis Pigmentosa: A 15-Patient Study

Ianne Pessoa Holanda, Priscila Hae Hyun Rim, Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner

Genes (Basel) 2024 Apr; 15(4): 516. Published online 2024 Apr 20. doi: 10.3390/genes15040516

PMCID:: PMC11050127

Abstract Article PDF–1.3M

Select item 1100507619.

Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia

Garrett Grissim, Ashleigh Walesa, Hannah M. Follett, Brian P. Higgins, Kaitlin Goetschel, Heather Heitkotter, Joseph Carroll

Invest Ophthalmol Vis Sci. 2024 Apr; 65(4): 16. Published online 2024 Apr 8. doi: 10.1167/iovs.65.4.16

PMCID:: PMC11005076

Abstract Article PDF–2.0M

Select item 1100399920.

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

Kizuki Watanabe, Shin-ya Nishio, Shin-ichi Usami, the Deafness Gene Study Consortium

Sci Rep. 2024; 14: 8326. Published online 2024 Apr 9. doi: 10.1038/s41598-024-57415-1

PMCID:: PMC11003999

Abstract Article PDF–1.1M

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