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Items: 1 to 20 of 216

1.
Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case
Ghufran Alarfaj, Hassan Alhashim, Horia M Alotaibi, Mahdi Almubarak, Jinan Alhamad
Cureus. 2024 Feb; 16(2): e53891. Published online 2024 Feb 9. doi: 10.7759/cureus.53891
PMCID:
PMC10924645
AbstractArticlePDF–1.3M
2.
Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity
Herman E. Talsma, Charlotte C. Kruijt, Gerard C. de Wit, Stefan H. L. Zwerver, Maria M. van Genderen
Invest Ophthalmol Vis Sci. 2023 Dec; 64(15): 30. Published online 2023 Dec 22. doi: 10.1167/iovs.64.15.30
PMCID:
PMC10746925
AbstractArticlePDF–1.0M
3.
Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?
Line Kessel, Christine Dahlgren Bohnsack Kjølholm, Joaquim Torner Jordana
Children (Basel) 2023 Dec; 10(12): 1910. Published online 2023 Dec 11. doi: 10.3390/children10121910
PMCID:
PMC10741917
AbstractArticlePDF–3.8M
4.
Foveal Hypoplasia in a Child With Tyrosinase-Positive Albinism
Alexandra Kavalaraki, Konstantinos Paraskevopoulos, Marianna Kavalaraki, Christina Karakosta, Maria Liaskou
Cureus. 2023 Sep; 15(9): e44558. Published online 2023 Sep 2. doi: 10.7759/cureus.44558
PMCID:
PMC10544804
AbstractArticlePDF–373K
5.
Foveal Hypoplasia in CRB1-Related Retinopathies
Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee
Int J Mol Sci. 2023 Sep; 24(18): 13932. Published online 2023 Sep 11. doi: 10.3390/ijms241813932
PMCID:
PMC10531165
AbstractArticlePDF–1.4M
6.
Characterizing Foveal Hypoplasia Using Optical Coherence Tomography Angiography: Evaluation of Microvascular Abnormalities and Clinical Significance
Jens Julian Storp, Julian Alexander Zimmermann, Moritz Fabian Danzer, Maged Alnawaiseh, Nicole Eter, Sami Al-Nawaiseh
J Clin Med. 2023 Aug; 12(15): 4992. Published online 2023 Jul 29. doi: 10.3390/jcm12154992
PMCID:
PMC10419931
AbstractArticlePDF–4.4M
7.
A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis
Yanping Yu, Hongyan Jia, Qian Ma, Ranran Zhang, Yonghong Jiao
BMC Ophthalmol. 2023; 23: 349. Published online 2023 Aug 8. doi: 10.1186/s12886-023-03054-5
PMCID:
PMC10408164
AbstractArticlePDF–3.1M
8.
Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia
Itsuka Matsushita, Hiroto Izumi, Shinji Ueno, Takaaki Hayashi, Kaoru Fujinami, Kazushige Tsunoda, Takeshi Iwata, Yoshiaki Kiuchi, Hiroyuki Kondo
Genes (Basel) 2023 Jul; 14(7): 1483. Published online 2023 Jul 21. doi: 10.3390/genes14071483
PMCID:
PMC10379490
AbstractArticlePDF–3.7M
9.
Atypical Foveal Hypoplasia in Best Disease
Emmanuelle Moret, Raphaël Lejoyeux, Sophie Bonnin, Georges Azar, Jessica Guillaume, Chloé Le Cossec, Justine Lafolie, Anne-Sophie Alonso, Catherine Favard, Isabelle Meunier, Vivien Vasseur, Martine Mauget-Faÿsse
J Pers Med. 2023 Feb; 13(2): 337. Published online 2023 Feb 15. doi: 10.3390/jpm13020337
PMCID:
PMC9959407
AbstractArticlePDF–1.2M
10.
Foveal Hypoplasia Related to Congenital Rubella
Ana Rita Viana, Rita Basto, Renato Correia Barbosa, Alexandre Silva, Carla Teixeira
Cureus. 2022 Nov; 14(11): e31766. Published online 2022 Nov 21. doi: 10.7759/cureus.31766
PMCID:
PMC9774997
AbstractArticlePDF–677K
11.
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia
Volha V. Malechka, Dat Duong, Keyla D. Bordonada, Amy Turriff, Delphine Blain, Elizabeth Murphy, Wendy J. Introne, Bernadette R. Gochuico, David R. Adams, Wadih M. Zein, Brian P. Brooks, Laryssa A. Huryn, Benjamin D. Solomon, Robert B. Hufnagel
Ophthalmol Sci. 2023 Mar; 3(1): 100225. Published online 2022 Sep 24. doi: 10.1016/j.xops.2022.100225
PMCID:
PMC9634033
AbstractArticlePDF–1.7M
12.
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
AbstractArticlePDF–816K
13.
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
Camilla Rocca, Lucia Tiberi, Sara Bargiacchi, Viviana Palazzo, Samuela Landini, Elisa Marziali, Roberto Caputo, Francesca Tinelli, Viviana Marchi, Alessandro Benedetto, Angelica Pagliazzi, Giacomo Maria Bacci
Int J Mol Sci. 2022 Jul; 23(14): 7825. Published online 2022 Jul 15. doi: 10.3390/ijms23147825
PMCID:
PMC9317384
AbstractArticlePDF–3.6M
14.
Foveal hypoplasia and characteristics of optical components in patients with familial exudative vitreoretinopathy and retinopathy of prematurity
Pei-Ying Chen, Eugene Yu-Chuan Kang, Kuan-Jen Chen, Xiao Chun Ling, Yin-Hsi Chang, Nan-Kai Wang, Laura Liu, Yen-Po Chen, Yih-Shiou Hwang, Chi-Chun Lai, Wei-Chi Wu
Sci Rep. 2022; 12: 7694. Published online 2022 May 11. doi: 10.1038/s41598-022-11455-7
PMCID:
PMC9095679
AbstractArticlePDF–1.1M
15.
Multimodal imaging of congenital retinal macrovessel with secondary foveal hypoplasia
Piyush Kohli, Chitaranjan Mishra, Girish Baliga, Renu P Rajan
BMJ Case Rep. 2022; 15(4): e249563. Published online 2022 Apr 20. doi: 10.1136/bcr-2022-249563
PMCID:
PMC9021763
AbstractArticlePDF–1.6M
16.
Morphology of foveal hypoplasia: Hyporeflective zones in the Henle fiber layer of eyes with high-grade foveal hypoplasia
Andreas Bringmann, Thomas Barth, Focke Ziemssen
PLoS One. 2022; 17(4): e0266968. Published online 2022 Apr 13. doi: 10.1371/journal.pone.0266968
PMCID:
PMC9007365
AbstractArticlePDF–2.8M
17.
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes
Giancarlo Iarossi, Andrea Maria Coppè, Chiara Passarelli, Paolo Enrico Maltese, Lorenzo Sinibaldi, Alessandro Cappelli, Sarah Cetola, Antonio Novelli, Luca Buzzonetti
Int J Mol Sci. 2021 Aug; 22(16): 8617. Published online 2021 Aug 10. doi: 10.3390/ijms22168617
PMCID:
PMC8395340
AbstractArticlePDF–2.2M
18.
Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement
Yi Jiang, Shiqiang Li, Xueshan Xiao, Wenmin Sun, Qingjiong Zhang
Invest Ophthalmol Vis Sci. 2021 Aug; 62(10): 23. Published online 2021 Aug 20. doi: 10.1167/iovs.62.10.23
PMCID:
PMC8383911
AbstractArticlePDF–8.8M
19.
Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia
Xiying Mao, Mingkang Chen, Yan Yu, Qinghuai Liu, Songtao Yuan, Wen Fan
BMC Ophthalmol. 2021; 21: 156. Published online 2021 Mar 30. doi: 10.1186/s12886-021-01905-7
PMCID:
PMC8011130
AbstractArticlePDF–4.0M
20.
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
Dulce Lima Cunha, Nicholas Owen, Vijay Tailor, Marta Corton, Maria Theodorou, Mariya Moosajee
Eur J Hum Genet. 2021 Feb; 29(2): 349–355. Published online 2020 Oct 6. doi: 10.1038/s41431-020-00737-1
PMCID:
PMC7868363
AbstractArticlePDF–1.8M

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