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2018 1
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139 results

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Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE. Piotter E, et al. Biomolecules. 2021 Aug 9;11(8):1179. doi: 10.3390/biom11081179. Biomolecules. 2021. PMID: 34439845 Free PMC article. Review.
Despite being the most prevalent cause of inherited blindness in children, Stargardt disease is yet to achieve the same clinical trial success as has been achieved for other inherited retinal diseases. With an early age of onset and continual progression of disease …
Despite being the most prevalent cause of inherited blindness in children, Stargardt disease is yet to achieve the same clinic …
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Rahman N, Georgiou M, Khan KN, Michaelides M. Rahman N, et al. Br J Ophthalmol. 2020 Apr;104(4):451-460. doi: 10.1136/bjophthalmol-2019-315086. Epub 2019 Nov 8. Br J Ophthalmol. 2020. PMID: 31704701 Free PMC article. Review.
The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. ...
The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pa …
Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration.
Molday RS, Garces FA, Scortecci JF, Molday LL. Molday RS, et al. Prog Retin Eye Res. 2022 Jul;89:101036. doi: 10.1016/j.preteyeres.2021.101036. Epub 2021 Dec 23. Prog Retin Eye Res. 2022. PMID: 34954332 Review.
Loss-of-function mutations in the gene encoding ABCA4 cause autosomal recessive Stargardt macular degeneration, also known as Stargardt disease (STGD1), and related autosomal recessive retinopathies characterized by impaired central vision and a …
Loss-of-function mutations in the gene encoding ABCA4 cause autosomal recessive Stargardt macular degeneration, also kn …
Stargardt disease masquerades.
Ricca AM, Han IC, Sohn EH. Ricca AM, et al. Curr Opin Ophthalmol. 2021 May 1;32(3):214-224. doi: 10.1097/ICU.0000000000000750. Curr Opin Ophthalmol. 2021. PMID: 33653979 Review.
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. ...RECENT FINDINGS: Multimodal …
PURPOSE OF REVIEW: Stargardt disease is the most common inherited macular dystrophy but has a wide clinical spectrum, and seve …
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
PURPOSE: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. . …
PURPOSE: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargard …
ABCA4-Associated Stargardt Disease.
Khan M, Cremers FPM. Khan M, et al. Klin Monbl Augenheilkd. 2020 Mar;237(3):267-274. doi: 10.1055/a-1057-9939. Epub 2020 Feb 3. Klin Monbl Augenheilkd. 2020. PMID: 32016942 English.
Autosomal recessive Stargardt disease (STGD1) is associated with variants in the ABCA4 gene. ...
Autosomal recessive Stargardt disease (STGD1) is associated with variants in the ABCA4 gene. ...
The Role of the Choroid in Stargardt Disease.
Abdolrahimzadeh S, Formisano M, Di Pippo M, Lodesani M, Lotery AJ. Abdolrahimzadeh S, et al. Int J Mol Sci. 2022 Jul 9;23(14):7607. doi: 10.3390/ijms23147607. Int J Mol Sci. 2022. PMID: 35886953 Free PMC article. Review.
Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. ...A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment …
Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. ...A corre …
Clinical classification of Stargardt disease.
Pas JAAH, Dhooge PPA, Hoyng CB. Pas JAAH, et al. Graefes Arch Clin Exp Ophthalmol. 2024 May;262(5):1377-1379. doi: 10.1007/s00417-023-06292-x. Epub 2023 Nov 7. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 37934290 Free PMC article. No abstract available.
Stargardt macular dystrophy and therapeutic approaches.
Fujinami K, Waheed N, Laich Y, Yang P, Fujinami-Yokokawa Y, Higgins JJ, Lu JT, Curtiss D, Clary C, Michaelides M. Fujinami K, et al. Br J Ophthalmol. 2024 Mar 20;108(4):495-505. doi: 10.1136/bjo-2022-323071. Br J Ophthalmol. 2024. PMID: 37940365 Free PMC article. Review.
Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. ...
Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. ...
Macular Pigment Carotenoids and Bisretinoid A2E.
Arunkumar R, Bernstein PS. Arunkumar R, et al. Adv Exp Med Biol. 2023;1415:15-20. doi: 10.1007/978-3-031-27681-1_3. Adv Exp Med Biol. 2023. PMID: 37440008 Review.
The pyridinium bisretinoid, N-retinylidene-N-retinylethanolamine (A2E), contributes to drusen formation in dry age-related macular degeneration (AMD) and to the autofluorescent flecks in autosomal recessive Stargardt disease (STGD1). Retinal carotenoids attenuate A2 …
The pyridinium bisretinoid, N-retinylidene-N-retinylethanolamine (A2E), contributes to drusen formation in dry age-related macular degenerat …
139 results