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Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease.
Sci Rep
October 2024
Department of Experimental Psychology, University of Oxford, Oxford, OX2 6GG, UK.
Image based cell-specific biomarkers will play an important role in monitoring treatment outcomes of novel therapies in patients with Stargardt (STGD1) disease and may provide information on the exact mechanism of retinal degeneration. This study reports retinal image features from conventional clinical imaging and from corresponding high-resolution imaging with a confocal adaptive optics scanning laser ophthalmoscope (AOSLO) in a heterogenous cohort of patients with Stargardt (STGD1) disease. This is a prospective observational study in which 16 participants with clinically and molecularly confirmed STGD1, and 7 healthy controls underwent clinical assessment and confocal AOSLO imaging.
View Article and Find Full Text PDFComparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.
Genome Biol
May 2024
Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Background: Vision depends on the interplay between photoreceptor cells of the neural retina and the underlying retinal pigment epithelium (RPE). Most genes involved in inherited retinal diseases display specific spatiotemporal expression within these interconnected retinal components through the local recruitment of cis-regulatory elements (CREs) in 3D nuclear space.
Results: To understand the role of differential chromatin architecture in establishing tissue-specific expression at inherited retinal disease loci, we mapped genome-wide chromatin interactions using in situ Hi-C and H3K4me3 HiChIP on neural retina and RPE/choroid from human adult donor eyes.
Local progression kinetics of macular atrophy in recessive Stargardt disease.
Ophthalmic Genet
December 2023
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Background: To determine the effect of lesion topography on progression in Stargardt disease (STGD1).
Methods: Fundus autofluoresence (excitation 488 nm) images of 193 eyes in patients with proven mutation were semi-automatically segmented for autofluoresence changes: (DDAF) and questionably decreased autofluoresence (QDAF), which are proxies for retinal pigment epithelial (RPE) atrophy. We calculated topographic incidence of DDAF and DDAF + QDAF, as well as velocity of progression of the border of lesions using Euclidean distance mapping.
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
Invest Ophthalmol Vis Sci
April 2022
St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine.
Article Synopsis
- The study investigates the impact of a specific noncoding variant, c.859-25A>G, found in the ABCA4 gene, on retinal diseases like Stargardt disease (STGD) and cone-rod dystrophy (CRD) in Palestinian individuals.
- Researchers used sequencing, splice assays, and clinical assessments to understand how this variant affects mRNA splicing and the resulting eye health.
- The findings indicate that c.859-25A>G causes significant splicing defects leading to severe retinal conditions, making it a common genetic variant linked to inherited retinal diseases in the West Bank region.
Structure-Based Understanding of ABCA3 Variants.
Int J Mol Sci
September 2021
Institut Mondor de Recherche Biomédicale, Université Paris Est Creteil, F-94010 Créteil, France.
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. Mutations are mostly private, and accurate interpretation of variants is mandatory for genetic counseling and patient care. We used 3D structure information to complete the set of available bioinformatics tools dedicated to medical decision.
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