Results 21 to 30 of about 370,744 (189)

Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies

Ophthalmology and Therapy, 2020
Inherited retinal dystrophies (IRD) are a heterogeneous group of rare chronic disorders caused by genetically determined degeneration of photoreceptors and retinal pigment epithelium cells.
Maria Vittoria Cicinelli, Alessandro Marchese, Alessandro Bordato, Maria Pia Manitto, Francesco Bandello, Maurizio Battaglia Parodi   +5 more
doaj   +1 more source

Emerging Drug Therapies for Inherited Retinal Dystrophies

, 2020
Worldwide, 1 in 2000 people suffer from inherited retinal dystrophies (IRD). Individuals with IRD typically present with progressive vision loss that ultimately results in blindness. Unfortunately, effective treatment options are not widely available due
Sundaramurthi, Husvinee
core   +1 more source

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. [PDF]

PLoS ONE, 2015
This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families extensively screened for known mutations or genes.
Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso   +19 more
doaj   +1 more source

Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179 [PDF]

, 2015
The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the ...
Bainbridge, James W.B., Rizzi, M, Nishiguchi, KM, James W. B. Bainbridge, Kate Powell, Joana Ribeiro, Duran, Y, Ribeiro, J, Powell, K, Luhmann, UF, Azam, Selina A., Yanai Duran, Rizzi, Matteo, Livia S. Carvalho, Smith, Alexander J., Holthaus, Sophia Martha Kleine, Robin R. Ali, Ulrich F. O. Luhmann, Carvalho, Livia S., Er J. Smith, Koji M. Nishiguchi, Powell, Kate, Matteo Rizzi, Selina A. Azam, Carvalho, LS, Ali, RR, Holthaus, SM, Sophia-martha Kleine Holthaus, Bainbridge, JW, Ali, Robin R.; id_orcid, Luhmann, Ulrich F.O., Duran, Yanai, Azam, SA, Ribeiro, Joana, Smith, AJ, Nishiguchi, Koji M.   +35 more
core   +1 more source

CRB1 mutations in inherited retinal dystrophies. [PDF]

, 2011
International audienceMutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP).
Lancelot, Marie-Elise, José-Alain Sahel, Christine Lonjou, Bujakowska, Kinga, Christina Zeitz, Mohand-Saïd, Saddek, Antonio, Aline, Zeitz, Christina, Sahel, José-Alain, Saddek Mohand-Saïd, Aline Antonio, Bhattacharya, Shomi, S., Isabelle Audo, Letexier, Mélanie, Lonjou, Christine, Wassila Carpentier, Kinga Bujakowska, Carpentier, Wassila, Marie-Elise Lancelot, Aurore Germain, Mélanie Letexier, Audo, Isabelle, Germain, Aurore, Saraiva, Jean-Paul, Léveillard, Thierry, Thierry Léveillard, Jean-Paul Saraiva, Shomi S. Bhattacharya   +27 more
core   +2 more sources

Bilateral Retinitis Pigmentosa with Bilateral Microphakia: An Uncommon Association

Delhi Journal of Ophthalmology, 2022
A series of progressive inherited retinal dystrophies known as retinitis pigmentosa include degeneration of rods followed by the loss of cone photoreceptors.
Anupriya Aggarwal, Rajwinder Kaur, Balbir Khan, Priyanka Dahiya   +3 more
doaj   +1 more source

Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies [PDF]

Molecular Therapy - Nucleic Acids
Esther Pomares
exaly   +2 more sources

Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies

Antioxidants, 2020
Oxidative stress represents one of the principal inductors of lifestyle-related and genetic diseases. Among them, inherited retinal dystrophies, such as age-related macular degeneration and retinitis pigmentosa, are well known to be susceptible to ...
Luigi Donato, Rosalia D’Angelo, Simona Alibrandi, Carmela Rinaldi, Antonina Sidoti, Concetta Scimone   +5 more
doaj   +1 more source

CRB1 mutation spectrum in inherited retinal dystrophies. [PDF]

, 2004
Contains fulltext : 57334.pdf (Publisher’s version ) (Open Access)Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa ...
Roepman, R, Koenekoop, RK, Heckenlively, J.R., Cremers, F.P.M., Zonneveld, MN, Hoyng, C.B., Davis, J., Born, L.I. van den, Heckenlively, JR, den Hollander, AI, Pierrottet, CO, Hoyng, CB, Koenekoop, R.K., Velde-Visser, S.D. van der, Pierrottet, C.O., Roepman, R., Kellner, U., Davis, J, Cremers, FP, Zonneveld-Vrieling, M.N., Handford, P.A., van der Velde-Visser, SD, Kellner, U, Handford, Penelope, Hollander, A.I. den, van den Born, LI   +25 more
core   +1 more source

Unveiling Visual Acuity in 58,712 Four-Year-Olds: Standardized Assessment Defined Normative Visual Acuity Threshold

Vision
The purpose was to define the threshold of normal visual acuity (VA), mean monocular and binocular VA, and interocular difference in the uniform cohort of healthy four-year-old children. All the children were recruited from the Croatian National Registry
Mirjana Bjeloš, Mladen Bušić, Benedict Rak, Ana Ćurić, Biljana Kuzmanović Elabjer   +4 more
doaj   +1 more source