Search

Your search keyword '"Mezer Eedy"' showing total 292 results
Start Over Author "Mezer Eedy"
292 results on '"Mezer Eedy"'

7. Binocular Home Treatment for Amblyopia: Gains Stable for One Year

Author

Spierer, Abraham, Wygnanski-Jaffe, Tamara, Zitzer, Nethanel, Cohen, Dan, Shpigelman, Ahuva, Hadash, Maoz, Ortenberg, Ilya, Cohen, Rinat, Leib, Hana, Arow, Majd, Parness, Reut, Rodov, Luba, Goz, Alexandra, Katz, Haia, Bazov, Anabel, Nissen, Chaim, Avraham, Gabriel, Borsha, Emad, Keynann, Idit, Aviv, Tali, Corcos, Nathalie, Roll, Keren, Mezer, Eedy, Brucker, Vered, Abecassis, Meital, Rabinovich, Ronen, Laster, Eran, Politi, Ronit, Givoni, Hila, Amitirat, Ahed, Barrett, Chiya Robert, Zioni, Adelina, Kuperman, Katty, Crocos, Yael, Moshkovitz, Avital, Kushner, Burton J., Belkin, Michael, and Yehezkel, Oren

Published
2024
Full Text
View/download PDF

9. Eight previously unidentified mutations found in the OA1 ocular albinism gene

Author

Dufier Jean-Louis, Kaplan Josseline, Mezer Eedy, Said Edith, Lacombe Didier, Sutherland Joanne, Levin Alex V, Héon Elise, Bonneau Dominique, Munier Francis L, Schorderet Daniel F, Dollfus Hélène, Marchant Dominique, Jaliffa Carolina, Vêtu Christelle, Roche Olivier, Mayeur Hélène, Marsac Cécile, Menasche Maurice, and Abitbol Marc

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. Methods The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. Results We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. Conclusion The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.

Published
2006
Full Text
View/download PDF

10. The impact of the first peak of the COVID-19 pandemic on childhood myopia control practice patterns among ophthalmologists—an international pediatric ophthalmology and strabismus council global perspective

Author

Kfir, Jonathan, Wygnanski-Jaffe, Tamara, Farzavandi, Sonal, Wei, Zhang, Yam, Jason C., de Faber, Jan Tjeerd, Orge, Faruk H., Aznauryan, Igor, Tsai, Chong-Bin, de Liano, Rosario Gomez, Natarajan, Sundaram, Dadeya, Subhash C., Agrawal, Siddharth, Sato, Miho, Shemesh, Rachel, and Mezer, Eedy

Published
2023
Full Text
View/download PDF

11. An Eye-Tracking–Based Dichoptic Home Treatment for Amblyopia: A Multicenter Randomized Clinical Trial

Author

Gan, Ramat, Spierer, Abraham, Wygnanski-Jaffe, Tamara, Zitzer, Nethanel, Cohen, Dan, Shpigelman, Ahuva, Hadash, Maoz, Ortenberg, Ilya, Cohen, Rinat, Leib, Hana, Arow, Majd, Parness, Reut, Rodov, Luba, Goz, Alexandra, Katz, Haia, Bazov, Anabel, Nissen, Chaim, Avraham, Gabriel, Borsha, Emad, Keynann, Idit, Aviv, Tali, Corcos, Nathalie, Roll, Keren, Mezer, Eedy, Brucker, Vered, Abecassis, Meital, Rabinovich, Ronen, Laster, Eran, Politi, Ronit, Givoni, Hila, Amitirat, Ahed, Barrett, Chiya Robert, Zioni, Adelina, Kuperman, Katty, Crocus, Yael, Kushner, Burton J., Moshkovitz, Avital, Belkin, Michael, and Yehezkel, Oren

Published
2023
Full Text
View/download PDF

13. Have gender and ethnic disparities in ophthalmology disappeared? Insights from a workforce-based study in Israel (2006–2021).

Author

Israeli, Asaf, Blumenthal, Eytan Z., Nemet, Achia, Zayit-Soudry, Shiri, Pizem, Hadas, and Mezer, Eedy

Subjects
DIVERSITY in the workplace, ETHNIC differences, GENDER inequality, OPHTHALMOLOGISTS, PHYSICIANS
Abstract

Background: Workforce diversity in healthcare has been shown to improve the quality of patient care. A paucity of data exists globally on this subject in ophthalmology. The purpose of this study was to analyze nationwide trends in gender-, ethnic- and country of graduation disparities among ophthalmologists in Israel. Methods: Cross-sectional, workforce-based study using data retrieved from the Israeli Ministry of Health. Data included gender, ethnicity, and medical graduation country. Proportions and trends among new residents and board-certified ophthalmologists (BCO) were assessed. Results: During 2006–2021, 18,624 medical licenses were issued (41.7% Israeli Medical Graduates (IsrMGs), 42.2% female), average yearly increase (AYI) was 6.9%, females and IsrMGs had an average yearly decrease of 1% and 0.53%, respectively. 561 physicians began ophthalmology residency (57.5% male, 75% Jewish, 69.9% IsrMGs), reflecting a 6.2% total AYI, but 8.1% and 4.8% for female versus male residents, respectively. There were fewer female residents despite population and graduate pool adjustments (p = 0.002 and p = 0.002, respectively), but differences disappeared after 2015 (p = 0.52). Arab and Jewish residents AYIs were 6.4% and 5.7% respectively, with ethnic differences elucidated by adjusting for population sizes (p = 0.097). BCO densities in 2006 and 2021 were 7.5 and 9.06, respectively, with a 1.3% AYI (p < 0.001). Proportions of female and Arab BCO were lower than expected based on population proportions. (p < 0.001 and p < 0.001, respectively). Gender-differences remained after adjusting for population sizes (p < 0.001), but AYIs for female and male BCO were 1.38% and 1.15%, respectively. AYIs for Arab and Jewish BCO were 12% and 0.61%, respectively. Conclusions: Jewish and male dominance was seen among Israeli BCOs and was unrelated to population size or graduate distribution. Among new ophthalmology residents, Arab representation was adequate to their population proportion. In early years, male predominance was noted, however this disparity was no longer evident after 2015. These trends are encouraging, and efforts should be made to ensure the field remains inclusive and representative of the broader population. [ABSTRACT FROM AUTHOR]

Published
2025
Full Text
View/download PDF

28. An Eye-Tracking–Based Dichoptic Home Treatment for Amblyopia

Author

Wygnanski-Jaffe, Tamara, primary, Kushner, Burton J., additional, Moshkovitz, Avital, additional, Belkin, Michael, additional, Yehezkel, Oren, additional, Gan, Ramat, additional, Spierer, Abraham, additional, Wygnanski-Jaffe, Tamara, additional, Zitzer, Nethanel, additional, Cohen, Dan, additional, Shpigelman, Ahuva, additional, Hadash, Maoz, additional, Ortenberg, Ilya, additional, Cohen, Rinat, additional, Leib, Hana, additional, Arow, Majd, additional, Parness, Reut, additional, Rodov, Luba, additional, Goz, Alexandra, additional, Katz, Haia, additional, Bazov, Anabel, additional, Nissen, Chaim, additional, Avraham, Gabriel, additional, Borsha, Emad, additional, Keynann, Idit, additional, Aviv, Tali, additional, Corcos, Nathalie, additional, Roll, Keren, additional, Mezer, Eedy, additional, Brucker, Vered, additional, Abecassis, Meital, additional, Rabinovich, Ronen, additional, Laster, Eran, additional, Politi, Ronit, additional, Givoni, Hila, additional, Amitirat, Ahed, additional, Barrett, Chiya Robert, additional, Zioni, Adelina, additional, Kuperman, Katty, additional, and Crocus, Yael, additional

Published
2023
Full Text
View/download PDF

37. A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

Author

Tatour, Yasmin, Tamaiev, Jonathan, Shamaly, Shamaly, Colombo, Roberto, Bril, Ephrat, Rabinowitz, Tom, Yaakobi, Alona, Mezer, Eedy, Leibu, Rina, Tiosano, Beatrice, Shomron, Noam, Chowers, Itay, Banin, Eyal, Dror Sharon, and Ben-Yosef, Tamar

Subjects
Adult, Male, PDE6B, lcsh:QH426-470, Gene Expression, Genes, Recessive, Linkage Disequilibrium, Retina, whole exome sequencing, retinitis pigmentosa, Exome Sequencing, Electroretinography, Humans, Frameshift Mutation, lcsh:QH301-705.5, Aged, Cyclic Nucleotide Phosphodiesterases, Type 6, Homozygote, Computational Biology, Exons, Middle Aged, Founder Effect, Introns, Siberia, lcsh:Genetics, lcsh:Biology (General), Jews, Evoked Potentials, Visual, Female, RNA Splice Sites, Tomography, Optical Coherence, Research Article
Abstract

Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potentials (VEP). Genetic analysis was performed with a combination of whole exome sequencing (WES) and Sanger sequencing. Bioinformatic analysis of the WES results was performed via a customized pipeline. Pathogenicity of the identified intronic variant was evaluated in silico using the web tool Human Splicing Finder, and in vitro, using a minigene-based splicing assay. Linkage disequilibrium (LD) analysis was used to demonstrate a founder effect, and the decay of LD over generations around the mutation in Caucasus Jewish chromosomes was modeled to estimate the age of the most recent common ancestor. Results: In eight patients with RP from six unrelated families, all of Caucasus Jewish ancestry, we identified a novel homozygous intronic variant, located at position −9 of PDE6B intron 15. The c.1921–9C>G variant was predicted to generate a novel acceptor splice site, nine bases upstream of the original splice site of intron 15. In vitro splicing assay demonstrated that this novel acceptor splice site is used instead of the wild-type site, leading to an 8-bp insertion into exon 16, which is predicted to cause a frameshift. The presence of a common ancestral haplotype in mutation-bearing chromosomes was compatible with a founder effect. Conclusions: The PDE6B c.1921–9C>G intronic mutation is a founder mutation that accounts for at least 40% (6/15 families) of autosomal recessive RP among Caucasus Jews. This result is highly important for molecular diagnosis, carrier screening, and genetic counseling in this population.

Published
2019

38. Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

Author

Yosef, Tamar Ben, Banin, Eyal, Chervinsky, Elana, Shalev, Stavit A., Leibu, Rina, Mezer, Eedy, Rotenstreich, Ygal, Goldenberg-Cohen, Nitza, Weiss, Shirel, Khan, Muhammad Imran, Panneman, Daan M., Hitti-Malin, Rebekkah J., Weiner, Chen, Roosing, Susanne, Cremers, Frans P. M., Pras, Eran, Zur, Dinah, Newman, Hadas, Deitch, Iris, and Sharon, Dror

Published
2023

42. Pediatric ophthalmology at the cutting edge: 2021

Author

Pineles, Stacy L., primary, Alkharashi, Maan, additional, Bachar, Anat Zipori, additional, Brooks, Steven, additional, Jain, Saurabh, additional, Mezer, Eedy, additional, Wygnanski-Jaffe, Tamara, additional, Yang, Michael, additional, and Campomanes, Alejandra de Alba, additional

Published
2021
Full Text
View/download PDF

43. IPOSC workshop: nightmares in strabismus

Author

Orge, Faruk H., primary, Holmes, Jonathan M., additional, Farzavandi, Sonal, additional, deFaber, Jan Tjeerd, additional, Wygnanski, Tamara, additional, Sprunger, Derek, additional, and Mezer, Eedy, additional

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results