Results 11 to 20 of about 10,317 (215)
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2) [PDF]
PURPOSE: To examine the association between characteristics of Stargardt disease and visual acuity (VA), to estimate the longitudinal rate of VA loss, and to identify risk factors for VA loss.
Cideciyan, AV +8 more
core +3 more sources
Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease
Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES.
Masoumeh Mohebi +2 more
doaj +1 more source
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
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants
Stargardt disease, a progressive retinal disorder, is associated with bi-allelic variants in ABCA4, a protein that is expressed in the retina. Induced pluripotent stem cell lines (RMCGENi005-A, SCTCi018-A, SCTCi017-A) were generated by lentivirus ...
Dyah W. Karjosukarso +5 more
doaj +1 more source
Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease. [PDF]
Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of
Yu Zhou +11 more
doaj +1 more source
Stargardt disease is the most common form of juvenile-onset macular dystrophy. Spectral-domain optical coherence tomography (SD-OCT) imaging provides an opportunity to directly measure changes to retinal layers due to Stargardt atrophy.
Zubin Mishra +3 more
doaj +1 more source
The Epidemiology of Stargardt Disease in the United Kingdom [PDF]
The authors thank the British Ophthalmological Surveillance Unit (BOSU) for the support received, as well as Mr Barnaby Foot, research coordinator for BOSU, for his help and advice on this project.
Bainbridge, James +5 more
core +2 more sources
Multimodal Imaging of Photoreceptor Structure in Choroideremia [PDF]
Purpose Choroideremia is a progressive X-linked recessive dystrophy, characterized by degeneration of the retinal pigment epithelium (RPE), choroid, choriocapillaris, and photoreceptors.
Carroll, Joseph +8 more
core +8 more sources
Age-related macular degeneration (AMD) and Stargardt disease are the leading causes of blindness for the elderly and young adults respectively. Geographic atrophy (GA) of AMD and Stargardt atrophy are their end-stage outcomes.
Ziyuan Wang +3 more
doaj +1 more source
Multimodal Imaging in a Case of Stargardt’s Disease
Stargardt Disease is the most common macular dystrophy, and multimodal image can be used for diagnosis and monitoring of the disease.
Shruti Bhattacharya +3 more
doaj +1 more source

