Stargardt Disease

2007 ◽  
pp. 105-118 ◽  
Author(s):  
Rando Allikmets
Keyword(s):  
Stargardt Disease

scholarly journals Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence

2021 ◽  
Vol 1 (1) ◽  
pp. 100005
Author(s):  
Rachael C. Heath Jeffery ◽  
Jennifer A. Thompson ◽  
Johnny Lo ◽  
Tina M. Lamey ◽  
Terri L. McLaren ◽  
...  
Keyword(s):  
Fundus Autofluorescence ◽  
Stargardt Disease

scholarly journals A vicious cycle of bisretinoid formation and oxidation relevant to recessive Stargardt disease

2021 ◽  
pp. 100259
Author(s):  
Jin Zhao ◽  
Hye Jin Kim ◽  
Keiko Ueda ◽  
Kevin Zhang ◽  
Diego Montenegro ◽  
...  
Keyword(s):  
Vicious Cycle ◽  
Stargardt Disease

scholarly journals Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

Genes ◽  
2019 ◽  
Vol 10 (6) ◽  
pp. 452 ◽  
Author(s):  
Alejandro Garanto ◽  
Lonneke Duijkers ◽  
Tomasz Z. Tomkiewicz ◽  
Rob W. J. Collin
Keyword(s):  
Pluripotent Stem Cells ◽  
Antisense Oligonucleotides ◽  
Autosomal Recessive ◽  
Stargardt Disease ◽  
Single Nucleotide ◽  
Significant Correction ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch ◽  
Splicing Defects ◽  
Induced Pluripotent

Deep-sequencing of the ABCA4 locus has revealed that ~10% of autosomal recessive Stargardt disease (STGD1) cases are caused by deep-intronic mutations. One of the most recurrent deep-intronic variants in the Belgian and Dutch STGD1 population is the c.4539+2001G>A mutation. This variant introduces a 345-nt pseudoexon to the ABCA4 mRNA transcript in a retina-specific manner. Antisense oligonucleotides (AONs) are short sequences of RNA that can modulate splicing. In this work, we designed 26 different AONs to perform a thorough screening to identify the most effective AONs to correct splicing defects associated with c.4539+2001G>A. All AONs were tested in patient-derived induced pluripotent stem cells (iPSCs) that were differentiated to photoreceptor precursor cells (PPCs). AON efficacy was assessed through RNA analysis and was based on correction efficacy, and AONs were grouped and their properties assessed. We (a) identified nine AONs with significant correction efficacies (>50%), (b) confirmed that a single nucleotide mismatch was sufficient to significantly decrease AON efficacy, and (c) found potential correlations between efficacy and some of the parameters analyzed. Overall, our results show that AON-based splicing modulation holds great potential for treating Stargardt disease caused by splicing defects in ABCA4.

scholarly journals Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

2021 ◽  
Author(s):  
Leonardo Gatticchi ◽  
Dominika Vešelényiová ◽  
Jan Miertus ◽  
Paolo Enrico Maltese ◽  
Elena Manara ◽  
...  
Keyword(s):  
Multiple Epiphyseal Dysplasia ◽  
Stargardt Disease ◽  
Epiphyseal Dysplasia

scholarly journals MAPPING THE DENSE SCOTOMA AND ITS ENLARGEMENT IN STARGARDT DISEASE

Retina ◽  
2016 ◽  
Vol 36 (9) ◽  
pp. 1741-1750 ◽  
Author(s):  
Aryeh Bernstein ◽  
Janet S. Sunness ◽  
Carol A. Applegate ◽  
Elizabeth O. Tegins
Keyword(s):  
Stargardt Disease

scholarly journals Computational Quantification of Complex Fundus Phenotypes in Age-Related Macular Degeneration and Stargardt Disease

2011 ◽  
Vol 52 (6) ◽  
pp. 2976 ◽  
Author(s):  
Gwenole Quellec ◽  
Stephen R. Russell ◽  
Todd E. Scheetz ◽  
Edwin M. Stone ◽  
Michael D. Abràmoff
Keyword(s):  
Macular Degeneration ◽  
Age Related Macular Degeneration ◽  
Stargardt Disease ◽  
Age Related

scholarly journals Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease

2012 ◽  
Vol 11 (4) ◽  
pp. 4342-4350 ◽  
Author(s):  
M. Oldani ◽  
S. Marchi ◽  
A. Giani ◽  
S. Cecchin ◽  
E. Rigoni ◽  
...  
Keyword(s):  
Genetic Study ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Stargardt Disease ◽  
Molecular Genetic Study

Hyperreflective foci in Stargardt disease: 1-year follow-up

2018 ◽  
Vol 257 (1) ◽  
pp. 41-48 ◽  
Author(s):  
Maurizio Battaglia Parodi ◽  
Riccardo Sacconi ◽  
Francesco Romano ◽  
Francesco Bandello
Keyword(s):  
Stargardt Disease ◽  
Hyperreflective Foci

scholarly journals Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)

2017 ◽  
Vol 135 (11) ◽  
pp. 1232 ◽  
Author(s):  
Rupert W. Strauss ◽  
Beatriz Muñoz ◽  
Alexander Ho ◽  
Anamika Jha ◽  
Michel Michaelides ◽  
...  
Keyword(s):  
Fundus Autofluorescence ◽  
Stargardt Disease ◽  
Disease Study
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