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Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease. [PDF]
Sci RepKhateri P +7 more
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Corrigendum to "Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework". [PDF]
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Georgetown Medical Review, 2022
Stargardt disease is a slowly progressing macular dystrophy with an onset of disease most commonly in children and young adults. Numerous genes have been found to be associated with this disease, with variants in the retina specific ATP- binding cassette transporter (ABCA4) gene being most common.
Kevin Delijani +5 more
openaire +2 more sources
Stargardt disease is a slowly progressing macular dystrophy with an onset of disease most commonly in children and young adults. Numerous genes have been found to be associated with this disease, with variants in the retina specific ATP- binding cassette transporter (ABCA4) gene being most common.
Kevin Delijani +5 more
openaire +2 more sources
Current Opinion in Ophthalmology, 2021
Purpose of review Stargardt disease is the most common inherited macular dystrophy but has a wide clinical spectrum, and several inherited macular dystrophies have phenotypic similarities that can make clinical diagnosis challenging.
Aaron M, Ricca +2 more
openaire +2 more sources
Purpose of review Stargardt disease is the most common inherited macular dystrophy but has a wide clinical spectrum, and several inherited macular dystrophies have phenotypic similarities that can make clinical diagnosis challenging.
Aaron M, Ricca +2 more
openaire +2 more sources
2018
Stargardt disease (STGD) is one of the most common macular dystrophies in young adults. It progresses slowly. Its prevalence is about 1:8000-10,000. Age of onset is a surrogate marker: The earlier the onset, the more severe the disease course. Onset usually occurs in childhood or early adolescence, at about 10-15 years of age.
Stephen H, Tsang, Tarun, Sharma
+5 more sources
Stargardt disease (STGD) is one of the most common macular dystrophies in young adults. It progresses slowly. Its prevalence is about 1:8000-10,000. Age of onset is a surrogate marker: The earlier the onset, the more severe the disease course. Onset usually occurs in childhood or early adolescence, at about 10-15 years of age.
Stephen H, Tsang, Tarun, Sharma
+5 more sources
2012
Abstract Autosomal recessive Stargardt disease and fundus flavimaculatus represent a single clinical entity caused by mutation of the ABCA4 gene and accumulation of defective gene product (A2E) at the level of the RPE. The autosomal dominant STGD3 phenotype results when a mutation in the ELOVL4 gene produces a truncated protein that ...
Aimee V. Chappelow, Elias I. Traboulsi
+4 more sources
Abstract Autosomal recessive Stargardt disease and fundus flavimaculatus represent a single clinical entity caused by mutation of the ABCA4 gene and accumulation of defective gene product (A2E) at the level of the RPE. The autosomal dominant STGD3 phenotype results when a mutation in the ELOVL4 gene produces a truncated protein that ...
Aimee V. Chappelow, Elias I. Traboulsi
+4 more sources
Documenta Ophthalmologica, 1992
Three families including seven members with Stargardt's disease were examined. In addition to the affected family members, 43 of the relatives had an eye examination. In one family, there was a consanguineous marriage to be found. The heredity was most probably autosomal recessive in all of the three families.
M, Mäntyjärvi, K, Tuppurainen
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Three families including seven members with Stargardt's disease were examined. In addition to the affected family members, 43 of the relatives had an eye examination. In one family, there was a consanguineous marriage to be found. The heredity was most probably autosomal recessive in all of the three families.
M, Mäntyjärvi, K, Tuppurainen
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Non-viral Gene Therapy for Stargardt Disease with ECO/pRHO-ABCA4 Self-Assembled Nanoparticles [PDF]
Molecular Therapy, 2020 Stargardt disease (STGD) is an autosomal recessive retinal disorder caused by a monogenic ABCA4 mutation. Currently, there is no effective therapy to cure Stargardt disease.
Rebecca Schur +2 more
exaly +2 more sources
Retina, 2017
Purpose: To identify changes in the outer retina in areas without atrophy or flecks of Stargardt disease (STGD) using spectral-domain optical coherence tomography. Methods: Twenty-three STGD patients and 26 control subjects were assessed for outer retina (from the outer border of ...
Jacob G, Light +5 more
openaire +2 more sources
Purpose: To identify changes in the outer retina in areas without atrophy or flecks of Stargardt disease (STGD) using spectral-domain optical coherence tomography. Methods: Twenty-three STGD patients and 26 control subjects were assessed for outer retina (from the outer border of ...
Jacob G, Light +5 more
openaire +2 more sources
Progression of Late-Onset Stargardt Disease [PDF]
Investigative Ophthalmology and Visual Science, 2016 Contains fulltext : 168075.pdf (Publisher’s version ) (Open Access)Purpose: Identification of sensitive biomarkers is essential to determine potential effects of emerging therapeutic trials for Stargardt disease.
Bernhard Weber +2 more
exaly +3 more sources