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Genetics February 2025

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

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Kari Branham; Lassana Samarakoon; Isabelle Audo; Allison R. Ayala; Janet K. Cheetham; Stephen P. Daiger; Patty Dhooge; Jacque L. Duncan; Todd A. Durham; Abigail T. Fahim; Rachel M. Huckfeldt; Robert B. Hufnagel; Susanne Kohl; Ramiro S. Maldonado; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Juliana M. Ferraz Sallum; Mandeep S. Singh; Dror Sharon; Kimberly Stepien; Kaylie Jones; Christina Y. Weng; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: blindness, genes, genetics, retinal diseases, social survey
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):12. https://doi.org/10.1167/iovs.66.2.12

Includes: Supplemental Content

Cornea January 2025

Distinct Ocular Surface Microbiome in Keratoconus Patients Correlate With Local Immune Dysregulation

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Nimisha Rajiv Kumar; Pooja Khamar; Ramaraj Kannan; Archana Padmanabhan; Rohit Shetty; Sharon D'Souza; Tanuja Vaidya; Swaminathan Sethu; Arkasubhra Ghosh
TAGS: immune dysregulation, keratoconus, microbiome, ocular surfaces
Invest. Ophthalmol. Vis. Sci.. 2025; 66(1):60. https://doi.org/10.1167/iovs.66.1.60

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Nationwide prevalence assessment of inherited retinal diseases in the Israeli population

Sapir Shalom; Tamar Ben-Yosef; Ifat Sher; Ygal Rotenstreich; Ohad Birk; Libe Gradstein; Miriam Ehrenberg; Iris Deitch; Eran Pras; Dinah Zur; Hadas Newman; Nitza Goldenberg-Cohen; Shiri Soudry; Ido Perlman; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3095.

ARVO Annual Meeting Abstract June 2024

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

ARVO Annual Meeting Abstract June 2024

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Dror Sharon; Tamar Hayman; Shai Ovadia; Jaya Krishnan; Manon Bouckaert; Daan Panneman; Milton English; Susanne Roosing; Frans Cremers; Tamar Ben-Yosef; Eyal Banin; Ruth Ashery-Padan; Frauke Coppieters; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4936.

ARVO Annual Meeting Abstract June 2024

The Interplay between ADAR-based RNA Editing and Splicing-related Variants in ABCA4

Nina Schneider; Johanna Valensi; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4689.

ARVO Annual Meeting Abstract June 2024

Fine-tuning of therapeutic gene regulation is essential for functional improvement in FAM161A-deficient ciliopathy

Corinne Kostic; Ning Chang; Olivier Mercey; Younes El Fersioui; Alexis-Pierre Bemelmans; Carlo Rivolta; Eyal Banin; Dror Sharon; Paul Guichard; Virginie Hamel; Yvan Arsenijevic

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5339.

ARVO Annual Meeting Abstract June 2024

An intronic REEP6 variant affecting the splicing of a retina-specific exon causes autosomal recessive retinitis pigmentosa in Palestinian patients

Manar Ismail Salameh; Daan Panneman; Susanne Roosing; Frans Cremers; Samer Khateb; Yahya Swaiti; Wissam Saleh; Eyal Banin; Alaa Talbishi; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6036.

ARVO Annual Meeting Abstract June 2024

induced pluripotent stem cells derived corneal endothelial cells to model and treat Fuchs endothelial corneal dystrophy

Koushik Chakrabarty; Divyani Nayak; Sharon dsouza; Arkasubhra Ghosh; rohit shetty

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5786.

Genetics February 2024

Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population

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Avigail Beryozkin; Ifat Sher; Miriam Ehrenberg; Dinah Zur; Hadas Newman; Libe Gradstein; Francis Simaan; Ygal Rotenstreich; Nitza Goldenberg-Cohen; Irit Bahar; Anat Blumenfeld; Antonio Rivera; Boris Rosin; Iris Deitch-Harel; Ido Perlman; Hadas Mechoulam; Itay Chowers; Rina Leibu; Tamar Ben-Yosef; Eran Pras; Eyal Banin; Dror Sharon; Samer Khateb
TAGS: best1 gene, genetic analysis, genotype-phenotype associations, mutation, prevalence, vitelliform dystrophy, proteins
Invest. Ophthalmol. Vis. Sci.. 2024; 65(2):39. https://doi.org/10.1167/iovs.65.2.39

Includes: Supplemental Content

Vision Sciences Society Annual Meeting Abstract August 2023

People remember face pareidolia more than human face images during naturalistic encoding

Olga Kreichman; Limor Brook; Susan Wardle; Sharon Gilaie-Dotan

Journal of Vision. 2023; 23(9):5224. https://doi.org/10.1167/jov.23.9.5224

Vision Sciences Society Annual Meeting Abstract August 2023

Physical image properties influence image memorability in a category-dependent manner

Sharon Gilaie-Dotan; Olga Kreichman; Limor Brook; Shaimaa Masarwa

Journal of Vision. 2023; 23(9):5783. https://doi.org/10.1167/jov.23.9.5783

Vision Sciences Society Annual Meeting Abstract August 2023

Positive and negative facial valence are differently modulated by eccentricity: Replicating and extending earlier findings

Vasilisa Akselevich; Sharon Gilaie-Dotan

Journal of Vision. 2023; 23(9):5782. https://doi.org/10.1167/jov.23.9.5782

Vision Sciences Society Annual Meeting Abstract August 2023

Images viewed for longer durations are better remembered during naturalistic encoding

Shaimaa masarwa; Olga Kreichman; Limor Brook; Sharon Gilaie-Dotan

Journal of Vision. 2023; 23(9):5666. https://doi.org/10.1167/jov.23.9.5666

ARVO Annual Meeting Abstract June 2023

RNA editing of mutations causing inherited retinal diseases using the cellular deaminase acting on RNA (ADAR) enzyme

Dror Sharon; Nina Schneider; Johanna Valensi; Ricky Steinberg; Amit Eylon; Eyal Banin; Erez Levanon; Shay Ben-Aroya

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):770.

ARVO Annual Meeting Abstract June 2023

Best Disease: Review of reported causing mutations, genotype-phenotype correlation, and prevalence analysis in the Israeli population

Samer Khateb; Ygal Rotenstreich; Nitza Goldenberg-Cohen; Libe Gradstein; Boris Rosin; Itay Chowers; Rina Leibu; Hadas Newman; Miriam Ehrenberg; Tamar Ben-Yosef; Eran Pras; Dina Zur; Eyal Banin; Dror Sharon; Avigail Beryozkin

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1528.

ARVO Annual Meeting Abstract June 2023

Pharmacological modulation of autophagy and its therapeutic potential in the pathogenesis of pterygium disease

Nallathambi Jeyabalan; Naveen kumar; Shivapriya Shivakumar; Ramya Rompicherla; Nandini C; Sharon D 'Souza; ROHIT SHETTY; Arka subhra Ghosh

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):2933.

Retina March 2023

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

PDF

Alaa Abu-Diab; Prakadeeswari Gopalakrishnan; Chen Matsevich; Marije de Jong; Alexey Obolensky; Ayat Khalaileh; Manar Salameh; Ayala Ejzenberg; Menachem Gross; Eyal Banin; Dror Sharon; Samer Khateb
TAGS: homozygote, mice, retinal degeneration, sensorineural hearing loss, mice, knockout, retina
Trans. Vis. Sci. Tech.. 2023; 12(3):3. https://doi.org/10.1167/tvst.12.3.3

Includes: Supplemental Content

Retina February 2023

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

PDF

Mor Hanany; Richard Rui Yang; Chun Man Lam; Avigail Beryozkin; Yogapriya Sundaresan; Dror Sharon
TAGS: crystal structure, genes, genetics, mutation, prevalence
Trans. Vis. Sci. Tech.. 2023; 12(2):27. https://doi.org/10.1167/tvst.12.2.27

Includes: Supplemental Content

Vision Sciences Society Annual Meeting Abstract December 2022

Influences of physical image properties on image memory during naturalistic encoding

Sharon Gilaie-Dotan

Journal of Vision. 2022; 22(14):3200. https://doi.org/10.1167/jov.22.14.3200

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Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

Distinct Ocular Surface Microbiome in Keratoconus Patients Correlate With Local Immune Dysregulation

Nationwide prevalence assessment of inherited retinal diseases in the Israeli population

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

The Interplay between ADAR-based RNA Editing and Splicing-related Variants in ABCA4

Fine-tuning of therapeutic gene regulation is essential for functional improvement in FAM161A-deficient ciliopathy

An intronic REEP6 variant affecting the splicing of a retina-specific exon causes autosomal recessive retinitis pigmentosa in Palestinian patients

induced pluripotent stem cells derived corneal endothelial cells to model and treat Fuchs endothelial corneal dystrophy

Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population

People remember face pareidolia more than human face images during naturalistic encoding

Physical image properties influence image memorability in a category-dependent manner

Positive and negative facial valence are differently modulated by eccentricity: Replicating and extending earlier findings

Images viewed for longer durations are better remembered during naturalistic encoding

RNA editing of mutations causing inherited retinal diseases using the cellular deaminase acting on RNA (ADAR) enzyme

Best Disease: Review of reported causing mutations, genotype-phenotype correlation, and prevalence analysis in the Israeli population

Pharmacological modulation of autophagy and its therapeutic potential in the pathogenesis of pterygium disease

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

Influences of physical image properties on image memory during naturalistic encoding

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