Panel‐based genetic testing for inherited retinal disease screening 176 genes
Molecular Genetics &Genomic Medicine, Volume 9, Issue 12, December 2021., 2021 A retrospective study of 488 patients with inherited retinal dystrophy confirms that NGS 176 is a useful first tier genetic test, achieving a molecular diagnosis in 59.4% of those tested. Age and initial clinical diagnosis were strongly associated with diagnostic yield.
Leo H. N. Sheck +8 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Split intein-mediated protein trans-splicing expands AAV transfer capacity, thus overcoming the limited AAV cargo. However, non-mammalian inteins persist as trans-splicing by-products, and this could raise safety concerns for AAV intein clinical ...
Patrizia Tornabene +10 more
doaj +1 more source
Effect of retinol dehydrogenase gene transfer in a novel rat model of Stargardt disease
The FASEB Journal, Volume 35, Issue 11, November 2021., 2021 Abstract Dysfunction of the ATPase‐binding Cassette Transporter protein (ABCA4) can lead to early onset macular degeneration, in particular to Stargardt disease. To enable translational research into this form of blindness, we evaluated the effect of Cas9‐induced disruptions of the ABCA4 gene to potentially generate new transgenic rat models of the ...
T. Cronin +11 more
wiley +1 more source
Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence
Ophthalmology Science, 2021 Purpose: To investigate atrophy expansion rate (ER) using ultra-widefield (UWF) fundus autofluorescence (FAF) in Stargardt disease (STGD1). Design: Retrospective, longitudinal study.
Rachael C. Heath Jeffery, MChD, MPH +9 more
doaj +1 more source
Effect of palmitoylethanolamide on degeneration of a human-derived retinal pigment epithelial cell induced by all-trans retinal [PDF]
International Journal of Ophthalmology, 2023 AIM: To study the effect of palmitoylethanolamide (PEA) on apoptosis of retinal pigment epithelial (RPE) cells induced by all-trans retinal (atRAL) and to explore the possible molecular mechanism.
Yun Han +9 more
doaj +1 more source
Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1 (STGD1) [PDF]
, 2002 purpose. To investigate the slow and fast rod signals of the scotopic 15-Hz flicker ERG in patients with molecularly confirmed Stargardt disease type I (STGD1).
Weber, Bernhard H. F. +4 more
core +1 more source
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
Scientific Reports, 2023 Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene ...
Laura Whelan +16 more
doaj +1 more source
Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1. [PDF]
Hum Mol GenetInternational audienceThe ABCA4 protein plays an essential role in mammalian vision, ensuring the correct localization of all-trans-retinal within the visual cycle.
Morival C +13 more
europepmc +2 more sources
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
Frontiers in Genetics, 2019 Purpose: To clarify the mutation spectrum and frequency of ABCA4 in a Chinese cohort with Stargardt disease (STGD1).Methods: A total of 153 subjects, comprising 25 families (25 probands and their family members) and 71 sporadic cases, were recruited for ...
Fang-Yuan Hu +52 more
doaj +1 more source
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
Molecular Genetics & Genomic Medicine, 2021 Background The rapid spread of genome‐wide next‐generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well‐characterized molecular diagnosis.
Leonardo Gatticchi +9 more
doaj +1 more source