Results 51 to 60 of about 4,867,114 (192)

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

Molecular Genetics & Genomic Medicine, 2020
Background Deletion–insertion (delins) variants in the retina‐specific ATP‐binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for
Di Huang, Jennifer A. Thompson, Jason Charng, Enid Chelva, Samuel McLenachan, Shang‐Chih Chen, Dan Zhang, Terri L. McLaren, Tina M. Lamey, Ian J. Constable, John N. De Roach, May Thandar Aung‐Htut, Abbie Adams, Sue Fletcher, Steve D. Wilton, Fred K. Chen   +15 more
doaj   +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

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

Treatment of Stargardt disease with dobesilate [PDF]

BMJ Case Reports, 2012
Stargardt disease is a common inherited macular degeneration characterised by a significant loss in the central vision during the first or second decade of the life. Bilateral atrophic changes in the central retina are associated with degeneration of photoreceptors and underlying retinal pigment epithelium, and yellow flecks are extending from the ...
Pedro, Cuevas, Luis A, Outeiriño, Javier, Angulo, Guillermo, Giménez-Gallego   +3 more
openaire   +2 more sources

Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease

, 2020
Stargardt disease is one of the most common forms of inherited retinal disease and leads to permanent vision loss. A diagnostic feature of the disease is retinal flecks, which appear hyperautofluorescent in fundus autofluorescence (FAF) imaging. The size
Attia, MS, Charng, J, De Roach, JN, Thompson, JA, Chen, FK, Mehdizadeh, M, Frost, S, Arunachalam, S, Lamey, TM, McLaren, TL, Xiao, D, Mackey, DA   +11 more
core   +1 more source

Structural and biochemical basis for retinol‐binding protein 4 antagonism by tinlarebant

British Journal of Pharmacology, EarlyView.
Background and Purpose Retinol‐binding protein 4 (RBP4) is a member of the lipocalin superfamily that is connected to disease states such as insulin resistance, fatty liver disease and ocular disorders including Stargardt disease. Several retinoid and non‐retinoid antagonists of this protein have been developed for potential clinical use, but none have
Marco Bassetto, Philip D. Kiser
wiley   +1 more source

Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein, Ines Heinreich, Florian Willmitzer, Marion Mucha   +3 more
wiley   +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

From Molecular Targets to Advanced Delivery Systems: Aptamers for Precision Ocular Therapeutics

Advanced Therapeutics, Volume 9, Issue 10, October 2026.
Aptamer‐based strategies are revolutionizing ocular disease management through highly specific molecular recognition of disease specific molecular targets. This review systematically integrates therapeutic aptamer sequences, diagnostic aptasensor platforms, and targeted delivery strategies, highlighting design principles, ocular bioavailability ...
Minal Thacker, Ka‐Ying Wong, Liping Zhou, Man‐Sau Wong, Juewen Liu   +4 more
wiley   +1 more source