Results 11 to 20 of about 4,867,114 (192)
The Role of the Choroid in Stargardt Disease [PDF]
International Journal of Molecular Sciences, 2022 Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies.
Solmaz Abdolrahimzadeh +4 more
openaire +3 more sources
Epiretinal membrane removal in patients with Stargardt disease
Indian Journal of Ophthalmology, 2015 Epiretinal membranes (ERMs) in Stargardt disease have been known to undergo spontaneous separation in children. Results of surgical intervention in adult patients with Stargardt disease have rarely been reported.
Muna Bhende +2 more
doaj +2 more sources
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 +4 more
doaj +1 more source
Visual rehabilitation using video game stimulation for Stargardt disease
Therapeutic Advances in Ophthalmology, 2019 Background: Stargardt disease, a common form of heredomacular degeneration, leads to severe vision loss. Video game play can act as a positive biofeedback to reinforce visual rehabilitation and fixation training.
Dhanashree Ratra +2 more
doaj +2 more sources
Genotypic Analysis of ABCA4 Coding Sequence in Thai Patients with Stargardt Disease [PDF]
Siriraj Medical JournalObjective: To study the mutational spectrum of the ABCA4 gene in Thai patients with Stargardt disease. Materials and Methods: DNA sequencing of all 50 exons of the ABCA4 gene was performed in nine Thai patients with clinically diagnosed Stargardt ...
Chinnavuth Vatanashevanopakorn +8 more
doaj +1 more source
Effects of Photo-Biomodulation in Stargardt Disease
Clinical Ophthalmology, 2022 Sergio Zaccaria Scalinci,1 Nicola Valsecchi,2 Elena Pacella,3 Edoardo Trovato Battagliola3 1Ophthalmology Unit, DIMEC (Department of Medical and Surgical Sciences), Department of Ophthalmology, Alma Mater Studiorum University of Bologna, Bologna, Italy ...
Scalinci SZ +3 more
doaj +5 more sources
Spectral-domain OCT peripapillary retinal nerve fibre layer thickness measurements in patients with stargardt disease [PDF]
, 2010 Aims To evaluate the presence of peripapillary retinal nerve fibre layer (RNFL) defects in patients with Stargardt disease by using spectral-domain optical coherence tomography (SD-OCT).
Gerald A. Fishman (7927409) +2 more
core +7 more sources
Unusual clinical phenotype of Stargardt disease [PDF]
, 2021 Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene.
Rodriguez-de-la-Rua-Franch, Enrique +8 more
core +1 more source
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. [PDF]
, 2021 We genetically characterized 22 Swiss patients who had been diagnosed with Stargardt disease after clinical examination. We identified in 11 patients (50%) pathogenic bi-allelic ABCA4 variants, c.1760+2T>C and c.4496T>C being novel.
Schaller, André +11 more
core +2 more sources
Stem Cell Research, 2023 Stargardt disease, a progressive retinal disorder, is associated with bi-allelic variants in ABCA4. Employing the CRISPR/Cas9 approach, we generated isogenic control lines (RMCGENi005-A-1, RMCGENi018-A-1, RMCGENi017-A-1) for each of three induced ...
Dyah W. Karjosukarso +4 more
doaj +1 more source