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Items: 1 to 20 of 442

1.
Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups
Clare Quigley, Kirk A. J. Stephenson, Paul Kenna, Lorraine Cassidy
Int J Mol Sci. 2023 Jan; 24(2): 1068. Published online 2023 Jan 5. doi: 10.3390/ijms24021068
PMCID:
PMC9864201
AbstractArticlePDF–4.7M
2.
DICER1 Syndrome: Characterization of the ocular phenotype in a family-based cohort study
Laryssa A Huryn, Amy Turriff, Laura A Harney, Ann Garrity Carr, Chevez-Barrios Patricia, Dan S. Gombos, Radha Ram, Robert B Hufnagel, D. Ashley Hill, Wadih M Zein, Kris Ann P Schultz, Rachel Bishop, Douglas R Stewart
Ophthalmology. Author manuscript; available in PMC 2020 Feb 1.
Published in final edited form as: Ophthalmology. 2019 Feb; 126(2): 296–304. Published online 2018 Oct 17. doi: 10.1016/j.ophtha.2018.09.038
PMCID:
PMC6348055
AbstractArticlePDF–488K
3.
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients
Dorothée C. van Trier, Ineke van der Burgt, Renske W. Draaijer, Johannes R. M. Cruysberg, Cees Noordam, Jos M. Draaisma
Eur J Pediatr. 2018; 177(8): 1293–1298. Published online 2018 Jun 9. doi: 10.1007/s00431-018-3183-1
PMCID:
PMC6061046
AbstractArticlePDF–387K
4.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia A. L. Ruivenkamp, Paulien Terhal, Marleen E. H. Simon, Rosemarie Smith, Jane A. Hurst, The DDD study, Heather McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly A. Dubbs, Xilma R. Ortiz-Gonzalez, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper
Hum Genet. 2018; 137(5): 375–388. Published online 2018 May 8. doi: 10.1007/s00439-018-1887-y
PMCID:
PMC5973976
AbstractArticlePDF–2.6M
5.
p38MAPK plays a critical role in induction of a pro-inflammatory phenotype of retinal Müller cells following Zika virus infection
Shuang Zhu, Huanle Luo, Hua Liu, Yonju Ha, Elizabeth R. Mays, Ryan E. Lawrence, Evandro Winkelmann, Alan D. Barrett, Sylvia B. Smith, Min Wang, Tian Wang, Wenbo Zhang
Antiviral Res. Author manuscript; available in PMC 2018 Sep 1.
Published in final edited form as: Antiviral Res. 2017 Sep; 145: 70–81. Published online 2017 Jul 21. doi: 10.1016/j.antiviral.2017.07.012
PMCID:
PMC5576517
AbstractArticlePDF–920K
6.
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
Jessica Duis, Shannon Dean, Carolyn Applegate, Amy Harper, Rui Xiao, Weimin He, James D. Dollar, Lisa R. Sun, Marta Biderman Waberski, Thomas O. Crawford, Ada Hamosh, Carl E. Stafstrom
Ann Neurol. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Ann Neurol. 2016 Oct; 80(4): 633–637. Published online 2016 Aug 24. doi: 10.1002/ana.24744
PMCID:
PMC5042851
AbstractArticlePDF–267K
7.
NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
Daniëlle G.M. Bosch, F. Nienke Boonstra, Claudia Gonzaga-Jauregui, Mafei Xu, Joep de Ligt, Shalini Jhangiani, Wojciech Wiszniewski, Donna M. Muzny, Helger G. Yntema, Rolph Pfundt, Lisenka E.L.M. Vissers, Liesbeth Spruijt, Ellen A.W. Blokland, Chun-An Chen, Baylor-Hopkins Center for Mendelian Genomics, Richard A. Lewis, Sophia Y. Tsai, Richard A. Gibbs, Ming-Jer Tsai, James R. Lupski, Huda Y. Zoghbi, Frans P.M. Cremers, Bert B.A. de Vries, Christian P. Schaaf
Am J Hum Genet. 2014 Feb 6; 94(2): 303–309. doi: 10.1016/j.ajhg.2014.01.002
PMCID:
PMC3928641
AbstractArticlePDF–828K
8.
Ophthalmologic findings in Aicardi syndrome
Gary Fruhman, Tanya N. Eble, Nikki Gambhir, V. Reid Sutton, Ignatia B. Van den Veyver, Richard A. Lewis
J AAPOS. Author manuscript; available in PMC 2013 Jun 1.
Published in final edited form as: J AAPOS. 2012 Jun; 16(3): 238–241. doi: 10.1016/j.jaapos.2012.01.008
PMCID:
PMC3650611
AbstractArticlePDF–40K
9.
Absence of NR2E1 mutations in patients with aniridia
Ximena Corso-Díaz, Adrienne E. Borrie, Russell Bonaguro, Johanna M. Schuetz, Thomas Rosenberg, Hanne Jensen, Brian P. Brooks, Ian M. MacDonald, Francesca Pasutto, Michael A. Walter, Karen Grønskov, Angela Brooks-Wilson, Elizabeth M. Simpson
Mol Vis. 2012; 18: 2770–2782. Published online 2012 Nov 22.
PMCID:
PMC3513187
AbstractArticlePDF–800K
10.
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction
Luciani R. Carvalho, Kathryn S. Woods, Berenice B. Mendonca, Nathalie Marcal, Andrea L. Zamparini, Stefano Stifani, Joshua M. Brickman, Ivo J.P. Arnhold, Mehul T. Dattani
J Clin Invest. 2003 Oct 15; 112(8): 1192–1201. doi: 10.1172/JCI18589
PMCID:
PMC213489
AbstractArticlePDF–1.8M
11.
Zika Virus Infects Trabecular Meshwork and Causes Trabeculitis and Glaucomatous Pathology in Mouse Eyes
Pawan Kumar Singh, Ramesh B. Kasetti, Gulab S. Zode, Anju Goyal, Mark S. Juzych, Ashok Kumar
mSphere. 2019 May-Jun; 4(3): e00173-19. Published online 2019 May 8. doi: 10.1128/mSphere.00173-19
PMCID:
PMC6506617
AbstractArticlePDF–3.2M
12.
Optic Nerve Head and Retinal Changes in Idiopathic Intracranial Hypertension: Correlation with Short-Term Cerebrospinal Fluid Pressure Monitoring
Mario Damiano Toro, Niccolò Castellino, Andrea Russo, Davide Scollo, Teresio Avitabile, Robert Rejdak, Magdalena Rejdak, Vincenzo Cimino, Ciro Costagliola, Adriano Carnevali, Clara Grazia Chisari
J Clin Med. 2024 Jan; 13(2): 562. Published online 2024 Jan 18. doi: 10.3390/jcm13020562
PMCID:
PMC10816298
AbstractArticlePDF–1.2M
13.
Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis
Djamaa Atamena, Venu Gurram, Petnoï Petsophonsakul, Farnoosh Khosrobakhsh, Macarena S. Arrázola, Marlène Botella, Bernd Wissinger, Marion Szelechowski, Pascale Belenguer
Front Mol Neurosci. 2023; 16: 1241222. Published online 2023 Sep 6. doi: 10.3389/fnmol.2023.1241222
PMCID:
PMC10510408
AbstractArticlePDF–3.6M
14.
The Ophthalmic Manifestations of Down Syndrome
Emily Sun, Courtney L. Kraus
Children (Basel) 2023 Feb; 10(2): 341. Published online 2023 Feb 9. doi: 10.3390/children10020341
PMCID:
PMC9955748
AbstractArticlePDF–2.8M
15.
Ophthalmologic Manifestations in Autism Spectrum Disorder
Carlota Gutiérrez, Jorge Luis Marquez Santoni, Pilar Merino, Pilar Gómez de Liaño
Turk J Ophthalmol. 2022 Aug; 52(4): 246–251. Published online 2022 Aug 25. doi: 10.4274/tjo.galenos.2021.46588
PMCID:
PMC9421935
AbstractArticlePDF–600K
16.
Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7
David Atac, Lucas Mohn, Silke Feil, Kevin Maggi, Dominik Haenni, Britta Seebauer, Samuel Koller, Wolfgang Berger
Int J Mol Sci. 2022 Feb; 23(3): 1053. Published online 2022 Jan 19. doi: 10.3390/ijms23031053
PMCID:
PMC8834682
AbstractArticlePDF–3.9M
17.
Zika-Associated Birth Defects Reported in Pregnancies with Laboratory Evidence of Confirmed or Possible Zika Virus Infection — U.S. Zika Pregnancy and Infant Registry, December 1, 2015–March 31, 2018
Nicole M. Roth, Megan R. Reynolds, Elizabeth L. Lewis, Kate R. Woodworth, Shana Godfred-Cato, Augustina Delaney, Amanda Akosa, Miguel Valencia-Prado, Maura Lash, Amanda Elmore, Peter Langlois, Salma Khuwaja, Aifili Tufa, Esther M. Ellis, Eirini Nestoridi, Caleb Lyu, Nicole D Longcore, Monika Piccardi, Leah Lind, Sharon Starr, Loletha Johnson, Shea E. Browne, Michael Gosciminski, Paz E. Velasco, Fern Johnson-Clarke, Autumn Locklear, Mary Chan, Jane Fornoff, Karrie-Ann E. Toews, Julius Tonzel, Natalie S. Marzec, Shelby Hale, Amy E. Nance, Teri Willabus, Dianna Contreras, Sowmya N. Adibhatla, Lisa Iguchi, Emily Potts, Elizabeth Schiffman, Katherine Lolley, Brandi Stricklin, Elizabeth Ludwig, Helentina Garstang, Meghan Marx, Emily Ferrell, Camille Moreno-Gorrin, Kimberly Signs, Paul Romitti, Vinita Leedom, Brennan Martin, Louisa Castrodale, Amie Cook, Carolyn Fredette, Lindsay Denson, Laura Cronquist, John F. Nahabedian, III, Neha Shinde, Kara Polen, Suzanne M. Gilboa, Stacey W. Martin, Janet D. Cragan, Dana Meaney-Delman, Margaret A. Honein, Van T. Tong, Cynthia A. Moore
MMWR Morb Mortal Wkly Rep. 2022 Jan 21; 71(3): 73–79. Published online 2022 Jan 21. doi: 10.15585/mmwr.mm7103a1
PMCID:
PMC8774158
ArticlePDF–214K
18.
A Novel Radiologic Finding to Predict Ophthalmic Abnormalities in Children With Congenital Zika Syndrome
Virginia Vilar Sampaio, Adriana S O Melo, Anne L Coleman, Fei Yu, Sarah Rogeria Martins, Luciana Portela Rabello, Jousilene Sales Tavares, Karin Nielsen-Saines
J Pediatric Infect Dis Soc. 2021 Jun; 10(6): 730–737. Published online 2021 May 20. doi: 10.1093/jpids/piab010
PMCID:
PMC8562332
AbstractArticlePDF–23M
19.
Neuro-Ophthalmological Manifestations in Children with Down Syndrome: Current Perspectives
Lavinia Postolache, Anne Monier, Sophie Lhoir
Eye Brain. 2021; 13: 193–203. Published online 2021 Jul 21. doi: 10.2147/EB.S319817
PMCID:
PMC8311006
AbstractArticlePDF–953K
20.
A population-based study on the prevalence and causes of childhood blindness and visual impairment in North India
Meenakshi Wadhwani, Praveen Vashist, Suraj Singh Senjam, Vivek Gupta, Rohit Saxena, Radhika Tandon
Indian J Ophthalmol. 2021 Jun; 69(6): 1381–1387. Published online 2021 May 21. doi: 10.4103/ijo.IJO_2408_20
PMCID:
PMC8302266
AbstractArticlePDF–631K

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