Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism

Autor: Aida Sanchez-Bretano, Eloise Keeling, Jennifer A. Scott, Savannah A. Lynn, Sudha Priya Soundara-Pandi, Sarah L. Macdonald, Tutte Newall, Helen Griffiths, Andrew J. Lotery, J. Arjuna Ratnayaka, Jay E. Self, Helena Lee

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-19 (2023)

Abstract l-DOPA is deficient in the developing albino eye, resulting in abnormalities of retinal development and visual impairment. Ongoing retinal development after birth has also been demonstrated in the developing albino eye offering a potential t

Externí odkaz: https://doaj.org/article/6f488d00eb9a4864896e7ff1dbd57048

Exploring Healthy Retinal Aging with Deep Learning

Autor: Martin J. Menten, PhD, Robbie Holland, MSc, Oliver Leingang, PhD, Hrvoje Bogunović, PhD, Ahmed M. Hagag, MD, Rebecca Kaye, MD, Sophie Riedl, MD, Ghislaine L. Traber, MD, Osama N. Hassan, MSc, Nick Pawlowski, PhD, Ben Glocker, PhD, Lars G. Fritsche, PhD, Hendrik P.N. Scholl, MD, Sobha Sivaprasad, MD, Ursula Schmidt-Erfurth, MD, Daniel Rueckert, PhD, Andrew J. Lotery, MD

Publikováno v: Ophthalmology Science, Vol 3, Iss 3, Pp 100294- (2023)

Purpose: To study the individual course of retinal changes caused by healthy aging using deep learning. Design: Retrospective analysis of a large data set of retinal OCT images. Participants: A total of 85 709 adults between the age of 40 and 75 year

Externí odkaz: https://doaj.org/article/e0eb53ffa5f04287a5154c4856cf8732

Macular thickness varies with age-related macular degeneration genetic risk variants in the UK Biobank cohort

Autor: Rebecca A. Kaye, Karina Patasova, Praveen J. Patel, Pirro Hysi, Andrew J. Lotery, The UK Biobank Eye and Vision Consortium

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Abstract To evaluate the influence AMD risk genomic variants have on macular thickness in the normal population. UK Biobank participants with no significant ocular history were included using the UK Biobank Resource (project 2112). Spectral-domain op

Externí odkaz: https://doaj.org/article/37ff147fecd04efb94f0bab3b28719e3

The STArgardt Remofuscin Treatment Trial (STARTT): design and baseline characteristics of enrolled Stargardt patients [version 3; peer review: 2 approved]

Autor: Philipp T. Möller, Patty P.A. Dhooge, Andrew J. Lotery, Camiel J.F. Boon, Maurizio Battaglia Parodi, Philipp Herrmann, Mario G. Fsadni, Wolfgang Klein, Oliver Jungmann, Thomas H. Wheeler-Schilling, Frank G. Holz, Hans Müller, Tobias M. Peters, Steffen Schmitz-Valckenberg, Carel B. Hoyng, Katarina Stingl

Publikováno v: Open Research Europe, Vol 1 (2022)

Background: This report describes the study design and baseline characteristics of patients with Stargardt disease (STGD1) enrolled in the STArgardt Remofuscin Treatment Trial (STARTT). Methods: In total, 87 patients with genetically confirmed STGD1

Externí odkaz: https://doaj.org/article/7c667ac93b30404ea3ada9db3ff76044

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Autor: Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk l

Externí odkaz: https://doaj.org/article/ea46188f0f2c4f0cae58f959caf971a2