Results 51 to 60 of about 10,317 (215)

The optical coherence tomography and microperimetry biomarker evaluation in patients with geographic atrophy (OMEGA) study: Geographic atrophy progression in fundus autofluorescence ‐ OMEGA report 3

Acta Ophthalmologica, EarlyView.
Abstract Purpose To measure the progression of geographic atrophy (GA) in subjects with age‐related macular degeneration (AMD) in a natural history study. Methods We analysed fundus autofluorescence (FAF) images using a semiautomatic method (RegionFinder) to quantify the GA area in a monocentric study.
Philippe Valmaggia, Georg Ansari, Nadja Inglin, Nils Schärer, Hanna Zuche, Chrysoula Gabrani, Faady Yahya, Marco Cattaneo, Kristina Pfau, Andrea Giani, Marieh Esmaeelpour, Taffeta Chingning Yamaguchi, Christian Prünte, Hendrik P. N. Scholl, Nicolas Feltgen, Leopold Schmetterer, Maximilian Pfau, Peter M. Maloca   +17 more
wiley   +1 more source

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. [PDF]

, 2016
IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair.
Arno, G, Broadgate, S, Halford, S, Holder, GE, Hull, S, Khan, KN, McKibbin, M, Michaelides, M, Moore, AT, Plagnol, V, Robson, AG, Webster, AR   +11 more
core   +1 more source

The impacts of high refractive errors on self‐reported visual function and visual concern

Acta Ophthalmologica, EarlyView.
Abstract Purpose To examine the association between refractive errors and self‐reported visual function and visual concern, considering self‐perceived present eyesight, concerns about vision, accomplishing less and limitations in daily activities in an eye‐healthy cohort.
Jens Riis Møller, Arevak Saruhanian, Jens Rovelt, Josefine Freiberg, Marcel Reimann, Jeppe Nygård Samuelsen, Christina Eckmann‐Hansen, Miriam Kolko, Nina Jacobsen, FOREVER Consortium   +9 more
wiley   +1 more source

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. [PDF]

PLoS ONE, 2017
BACKGROUND:Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options-including gene therapy-are emerging. Arguably, the most
Stanley Lambertus, Nathalie M Bax, Ana Fakin, Joannes M M Groenewoud, B Jeroen Klevering, Anthony T Moore, Michel Michaelides, Andrew R Webster, Gert Jan van der Wilt, Carel B Hoyng   +9 more
doaj   +1 more source

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

Molecular Therapy: Nucleic Acids, 2022
Stargardt disease is an autosomal recessively inherited retinal disorder commonly caused by pathogenic variants in the ABCA4 gene encoding the ATP-binding cassette subfamily A member 4 (ABCA4) protein.
Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Stingl, Bernd Wissinger, Susanne Kohl   +6 more
doaj   +1 more source

Adverse Events of Saffron (Crocus sativus L.): Systematic Review of Current Evidence

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background Crocus sativus L., commonly known as saffron, is a widely used spice with a rich history of culinary and medicinal applications. This systematic review aims to compile human data from studies on monopreparations of C. sativus, including stigma powder and other extracts, to evaluate their safety.
Fatemeh Sadat Hasheminasab, Mahdie Hajimonfarednejad, Seyede Maryam Najibi, Mohammad Hashem Hashempur   +3 more
wiley   +1 more source

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease [PDF]

, 2016
Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n
Aarnoud Huissoon, Abigail Furnell, Adrian Thrasher, Alan Greenhalgh, Alasdair Parker, Alba Sanchis-Juan, Alba Sanchis-Juan, Alex Richter, Alice Gardham, Allan Lawrie, Aman Sohal, Amanda Creaser-Myers, Amy Frary, Andreas Greinacher, Andrew Mumford, Andrew Peacock, Andrew Webster, Andrew R. Webster, Angela F. Brady, Angie Brady, Ania Koziell, Ania Manson, Anita Chandra, Anke Hensiek, Anna Maw, Anne M. Kelly, Anthony Moore, Anthony T. Moore, Anton Vonk Noordegraaf, Antony Attwood, Archana Herwadkar, Arno, Auton, Ba-Abbad, Beaulieu, Belkadi, Benjamini, Berger, Braun, Bruce Furie, Carmen Treacy, Carolyn M. Millar, Carrock Sewell, Catherine Roughley, Catherine Titterton, Catherine Williamson, Charaka Hadinnapola, Charu Deshpande, Chen, Cheng, Cheng-Hock Toh, Chiang, Chiara Bacchelli, Chilamakuri, Chris Patch, Chris Van Geet, Christine Bryson, Christopher J. Penkett, Christopher J. Rhodes, Christopher Penkett, Claire Bethune, Claire Booth, Claire Lentaigne, Coleen McJannet, Colin Church, Consugar, Crina Samarghitean, Csaba Halmagyi, Daniel Gale, Daniel Greene, Daniel Hart, David Allsup, David Bennett, David Edgar, David J. Perry, David Keeling, David Kiely, Debbie Shipley, Deborah Whitehorn, Debra Fletcher, Deepa Krishnakumar, den Hollander, Desmet, Detelina Grozeva, Detelina Grozeva, Dinakantha Kumararatne, Dorothy A. Thompson, Dorothy Thompson, Dragana Josifova, Dragana Josifova, Eamonn Maher, Eisenberger, Elaine Murphy, Elaine Murphy, Eleanor Dewhurst, Eleanor Dewhurst, Elisabeth Rosser, Elisabeth Rosser, Elizabeth Chalmers, Elizabeth Drewe, Elizabeth McDermott, Ellen Thomas, Ellingford, Ellingford, Emily Staples, Emma Clement, Emma Clement, Emma Wakeling, Emma Wakeling, Eric Oksenhendler, Ernest Turro, Evan Reid, Evangeline Wassmer, F. Lucy Raymond, F. Lucy Raymond, Fengyuan Hu, Fiona Kennedy, Fitzgerald, Frances Flinter, Gary Polwarth, Gautum Ambegaonkar, Gavin Arno, Gavin Arno, Genevieve Wright, Geoffrey Woods, Gerry Coghlan, Gilissen, Grant Hayman, Gururaj Arumugakani, Hana Alachkar, Hana Lango Allen, Hans Stauss, Harald Schulze, Harm Boggard, Helen Baxendale, Helen Firth, Henderson, Hilary Longhurst, Hoischen, Huang, Hugh S. Markus, Hugh Watkins, Hull, Ilenia Simeoni, Irene Roberts, Isabella Quinti, Ivy Wanjiku, James C. Fox, James Thaventhiran, Jane Hurst, Jane Hurst, Jay Suntharalingam, Jeanette Payne, Jecko Thachil, Jennifer Martin, Jenny Carmichael, Jenny Carmichael, Jesmeen Maimaris, Joan Paterson, Joan Paterson, Joanna Pepke-Zaba, Johan W.M. Heemskerk, John Davis, John Pasi, John R. Bradley, John Wharton, John Wort, Jonathan Stephens, Jonathan Stephens, Julia Rankin, Julie Anderson, Julie Vogt, Julie von Ziegenweldt, Karola Rehnstrom, Karyn Megy, Karyn Megy, Kate Talks, Kathelijne Peerlinck, Kathleen Freson, Kathleen Stirrups, Kathleen Stirrups, Keith Gomez, Kenneth Smith, Keren Carss, Keren J. Carss, Kevin Rue-Albrecht, Khan, Kimberley Gilmour, Kircher, Larahmie Masati, Laura Southgate, Lek, Lelieveld, Liew, Lisa Devlin, Lisa Willcocks, Lorena Lorenzo, Louise Allen, Louise Allen, Louise Daugherty, Manali Chitre, Manali Chitre, Manju Kurian, Marc Humbert, Marc Tischkowitz, Maria Bitner-Glindzicz, Maria Bitner-Glindzicz, Marie Erwood, Marie Erwood, Marie Scully, Marijke Veltman, Mark Caulfield, Mark Ponsford, Mark Toshner, Marta Bleda, Martin Wilkins, Mary Mathias, Matthew Brown, Matthew Rondina, Matthias Haimel, Mayer, McRae, Melissa Lees, Michael A. Laffan, Michael Browning, Michael Gattens, Michael Richards, Michel Michaelides, Michel Michaelides, Michele P. Lambert, Minka De Vries, Moira Thomas, Muriel Holder, Naomi Clements-Brod, Natalie Canham, Natalie Dormand, Nathalie Kingston, Neeti Ghali, Nichola Cooper, Nicholas Morrell, Nigel Yeatman, Olga Shamardina, O’Sullivan, Paquita Nurden, Patel, Patrick Chinnery, Patrick Deegan, Patrick Yong, Patwardhan, Paul Calleja, Paul Gissen, Paula Bolton-Maggs, Pavandeep K. Ghataorhe, Pavel Gordins, Penelope Stein, Peter Collins, Peter Kelleher, Ping Yu, Purcell, Pusch, R. Campbell Tait, Rachel Linger, Rainer Doffinger, Rajiv Machado, Rashid Kazmi, Ravishankar Sargur, Reese, Remi Favier, Ri Liesner, Richard Antrobus, Richard H. Scott, Richard Sandford, Richard Scott, Richard Trembath, Rob Mackenzie, Robert E. MacLaren, Robert H.H. Henderson, Robert Henderson, Robert MacLaren, Roberta Rizzo, Roger James, Rohit Ghurye, Rosa DaCosta, Rosie Hague, Rutendo Mapeta, Ruth Armstrong, Ruth Armstrong, Sadia Noorani, Sai Murng, Saikat Santra, Salih Tuna, Samantha Malka, Sangermano, Sara Lear, Sarah Goddard, Sarah Hull, Sarah Mangles, Sarah Westbury, Sarju Mehta, Scott Hackett, Sergey Nejentsev, Shahin Moledina, Shahnaz Bibi, Sharon Meehan, Simon Gibbs, Simon Holden, Simon Staines, Sinisa Savic, Siobhan Burns, Sofia Grigoriadou, Sofia Papadia, Sofie Ashford, Sol Schulman, Sonia Ali, Soo-Mi Park, Sophie Davies, Sophie Stock, Sri V.V. Deevi, Stavropoulos, Stefan Gräf, Stenson, Stephen Jolles, Steve Austin, Steve Welch, Stuart Meacham, Stuart Rankin, Suranjith Seneviratne, Susan Holder, Suthesh Sivapalaratnam, Sylvia Richardson, Taco W. Kuijpers, Tadbir K. Bariana, Tamam Bakchoul, Tamara Everington, Thorvaldsdóttir, Tim Young, Timothy Aitman, Timothy Q. Warner, Tiwari, Tracey Hammerton, Turner, Vaché, Val Pollock, van den Hurk, Vera Matser, Vincent Plagnol, Virginia Clowes, Walter, Waseem Qasim, Wendy N. Erber, Westbury, Willem H. Ouwehand, Willem H. Ouwehand, William Astle, William Egner, Wojciech Turek, Wright, Yang, Yang, Yvonne Henskens, Yvonne Tan, Zarrei   +361 more
core   +5 more sources

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology

Journal of Ophthalmic & Vision Research, 2013
Purpose: To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition.
Leila El Matri, Farah Ouechtati, Ahmed Chebil, Leila Largueche, Sonia Abdelhak   +4 more
doaj  

Systemic complement activation levels in Stargardt disease.

PLoS ONE, 2021
PurposePreclinical research provides evidence for the complement system as a potential common pathway in Stargardt disease (STGD1) and age-related macular degeneration (AMD) leading to retinal pigment epithelium (RPE) loss.
Patty P A Dhooge, Esmee H Runhart, Catherina H Z Li, Corrie M de Kat Angelino, Carel B Hoyng, Renate G van der Molen, Anneke I den Hollander   +6 more
doaj   +1 more source