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Items: 1 to 20 of 52

1.
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
AbstractArticlePDF–1.3M
2.
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang
Orphanet J Rare Dis. 2024; 19: 149. Published online 2024 Apr 8. doi: 10.1186/s13023-024-03150-9
PMCID:
PMC11000329
AbstractArticlePDF–1.7M
3.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo, María Pilar Martin-Gutierrez, Pablo Minguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud T. Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
Int J Mol Sci. 2024 Mar; 25(5): 2913. Published online 2024 Mar 2. doi: 10.3390/ijms25052913
PMCID:
PMC10931554
AbstractArticlePDF–1.5M
4.
Deep Learning–Facilitated Study of the Rate of Change in Photoreceptor Outer Segment Metrics in RPGR-Related X-Linked Retinitis Pigmentosa
Yi-Zhong Wang, Katherine Juroch, Yineng Chen, Gui-Shuang Ying, David G. Birch
Invest Ophthalmol Vis Sci. 2023 Nov; 64(14): 31. Published online 2023 Nov 21. doi: 10.1167/iovs.64.14.31
PMCID:
PMC10668621
AbstractArticlePDF–746K
5.
Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study
Marie Burstedt, James H. Whelan, Jane S. Green, Karen Holopigian, Claudio Spera, Erin Greco, Jean-Yves Deslandes, Michael Wald, Cynthia Grosskreutz, Xiao Ni, Guillaume Normand, Michael Maker, Arnaud Charil, Michael Rosol, Yunsheng He, Kalliopi Stasi
Invest Ophthalmol Vis Sci. 2023 Oct; 64(13): 42. Published online 2023 Oct 26. doi: 10.1167/iovs.64.13.42
PMCID:
PMC10615144
AbstractArticlePDF–794K
6.
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15
Matthew D. Benson, Souvick Mukherjee, Aime R. Agather, Delphine Blain, Denise Cunningham, Robert Mays, Xun Sun, Tiansen Li, Robert B. Hufnagel, Brian P. Brooks, Laryssa A. Huryn, Wadih M. Zein, Catherine A. Cukras
Invest Ophthalmol Vis Sci. 2023 Sep; 64(12): 19. Published online 2023 Sep 11. doi: 10.1167/iovs.64.12.19
PMCID:
PMC10501488
AbstractArticlePDF–2.7M
7.
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa
Carina Kelbsch, Melanie Kempf, Ronja Jung, Friederike Kortüm, Milda Reith, Laura Kuehlewein, Susanne Kohl, Torsten Strasser, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Krunoslav Stingl, Katarina Stingl
Invest Ophthalmol Vis Sci. 2023 Aug; 64(11): 18. Published online 2023 Aug 14. doi: 10.1167/iovs.64.11.18
PMCID:
PMC10431211
AbstractArticlePDF–1.7M
8.
Phenotypic heterogeneity in family members of patients with retinitis pigmentosa
Rajasekar Loheshwari Kuppuraj, Neriyanuri Srividya, Sathyaprasath Mathangi, Arunacahalam Jayamuruga Pandian, Verma Adithya, Raman Rajiv
Indian J Ophthalmol. 2023 Jun; 71(6): 2504–2511. Published online 2023 Jun 14. doi: 10.4103/ijo.IJO_1853_22
PMCID:
PMC10418025
AbstractArticlePDF–3.2M
9.
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing
Maria Areblom, Sten Kjellström, Sten Andréasson, Anders Öhberg, Lotta Gränse, Ulrika Kjellström
Genes (Basel) 2023 Jul; 14(7): 1413. Published online 2023 Jul 8. doi: 10.3390/genes14071413
PMCID:
PMC10379620
AbstractArticlePDF–744K
10.
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
Kirk A. J. Stephenson, Laura Whelan, Julia Zhu, Adrian Dockery, Niamh C. Wynne, Rebecca M. Cairns, Claire Kirk, Jacqueline Turner, Emma S. Duignan, James J. O'Byrne, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan
Invest Ophthalmol Vis Sci. 2023 Jul; 64(10): 23. Published online 2023 Jul 19. doi: 10.1167/iovs.64.10.23
PMCID:
PMC10362925
AbstractArticlePDF–794K
11.
Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports
Yi-shuang Xiao, Wen-Ji He, Hong-chao Jiang, Li Tan, Jing Ma, Zhen Zhang
J Med Case Rep. 2023; 17: 226. Published online 2023 Jun 2. doi: 10.1186/s13256-023-03830-3
PMCID:
PMC10236786
AbstractArticlePDF–1.6M
12.
Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration
Dawiyat Massoudi, Seán Gorman, Yien-Ming Kuo, Takao Iwawaki, Scott A. Oakes, Feroz R. Papa, Douglas B. Gould
Invest Ophthalmol Vis Sci. 2023 Apr; 64(4): 30. Published online 2023 Apr 25. doi: 10.1167/iovs.64.4.30
PMCID:
PMC10148664
AbstractArticlePDF–3.6M
13.
Thicknesses of the retina and choroid in children with retinitis pigmentosa
Cheng Li, Chunxia Peng, Chengyue Zhang, Ningdong Li
BMC Ophthalmol. 2023; 23: 25. Published online 2023 Jan 17. doi: 10.1186/s12886-023-02772-0
PMCID:
PMC9843954
AbstractArticlePDF–1.8M
14.
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review
Joseph Griffith, III, Kareem Sioufi, Laurie Wilbanks, George N. Magrath, Emil A. T. Say, Michael J. Lyons, Meg Wilkes, Gurpur Shashidhar Pai, Mae Millicent Winfrey Peterseim
Genes (Basel) 2022 Aug; 13(8): 1490. Published online 2022 Aug 20. doi: 10.3390/genes13081490
PMCID:
PMC9407983
AbstractArticlePDF–788K
15.
Andrographolide Inhibits Epstein–Barr Virus Lytic Reactivation in EBV-Positive Cancer Cell Lines through the Modulation of Epigenetic-Related Proteins
Praphatson Malat, Tipaya Ekalaksananan, Chukkris Heawchaiyaphum, Supawadee Suebsasana, Sittiruk Roytrakul, Yodying Yingchutrakul, Chamsai Pientong
Molecules. 2022 Jul; 27(14): 4666. Published online 2022 Jul 21. doi: 10.3390/molecules27144666
PMCID:
PMC9316603
AbstractArticlePDF–1.9M
16.
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene
David G. Birch, Lassana Samarakoon, Michele Melia, Jacque L. Duncan, Allison R. Ayala, Isabelle Audo, Janet K. Cheetham, Todd A. Durham, Alessandro Iannaccone, Mark E. Pennesi, Katarina Stingl, for the Foundation Fighting Blindness Consortium Investigator Group
Invest Ophthalmol Vis Sci. 2022 Mar; 63(3): 17. Published online 2022 Mar 16. doi: 10.1167/iovs.63.3.17
PMCID:
PMC8944389
AbstractArticlePDF–1.7M
17.
Characterization of Retinal Function Using Microperimetry-Derived Metrics in Both Adults and Children With RPGR-Associated Retinopathy
Evgenia Anikina, Michalis Georgiou, James Tee, Andrew R. Webster, Richard G. Weleber, Michel Michaelides
Am J Ophthalmol. 2022 Feb; 234: 81–90. doi: 10.1016/j.ajo.2021.07.018
PMCID:
PMC8847997
AbstractArticlePDF–1.4M
18.
Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
Jin Ha Kim, Jung Woo Han, Eun Woo Choi, Ji Hong Bang, Hee Jeong Shin, Mi-Ae Jang, Jong-Young Lee, Jeong Nam Choi, Hun Soo Chang, Tae Kwann Park
J Korean Med Sci. 2022 Jan 17; 37(3): e5. Published online 2021 Nov 30. doi: 10.3346/jkms.2022.37.e5
PMCID:
PMC8763878
AbstractArticlePDF–2.5M
19.
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
Ana Fakin, Crystel Bonnet, Anne Kurtenbach, Saddek Mohand-Said, Ditta Zobor, Katarina Stingl, Francesco Testa, Francesca Simonelli, José-Alain Sahel, Isabelle Audo, Eberhart Zrenner, Marko Hawlina, Christine Petit
Int J Mol Sci. 2021 Oct; 22(19): 10352. Published online 2021 Sep 26. doi: 10.3390/ijms221910352
PMCID:
PMC8509029
AbstractArticlePDF–2.0M
20.
Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia
Rachael C. Heath Jeffery, Syed Aqif Mukhtar, Ian L. McAllister, William H. Morgan, David A. Mackey, Fred K. Chen
Ophthalmic Genet. 2021; 42(4): 431–439. Published online 2021 May 3. doi: 10.1080/13816810.2021.1913610
Correction in:
Ophthalmic Genet. 2021; 42(6): 790.
PMCID:
PMC8315212
AbstractArticlePDF–3.2M

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