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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 an accumulation of lip …
Loss-of-function mutations in the gene encoding ABCA4 cause autosomal recessive Stargardt macular degeneration, also known as Stargardt …
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H. Schulz HL, et al. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936. Invest Ophthalmol Vis Sci. 2017. PMID: 28118664 Free PMC article.
PURPOSE: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. ...In addition, we identified six risk-modulating common variants. Genetic risk score estimates …
PURPOSE: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-bindi …
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM. Cornelis SS, et al. Am J Hum Genet. 2022 Mar 3;109(3):498-507. doi: 10.1016/j.ajhg.2022.01.008. Epub 2022 Feb 3. Am J Hum Genet. 2022. PMID: 35120629 Free PMC article.
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population frequencies and penetrances are unknown. An example of this is Stargardt disease (STGD1), a frequent recessive retinal disease cause …
Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population freque …
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; ProgStar Study Group. Fujinami K, et al. Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20. Br J Ophthalmol. 2019. PMID: 29925512 Free PMC article.
BACKGROUND/AIMS: To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt disease 1 (STGD1) studies (ProgStar) and to determine geographic differences based on the allele frequency. ...All variants were …
BACKGROUND/AIMS: To describe the genetic characteristics of the cohort enrolled in the international multicentre progression of Stargardt …
Stargardt disease and progress in therapeutic strategies.
Huang D, Heath Jeffery RC, Aung-Htut MT, McLenachan S, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Ophthalmic Genet. 2022 Feb;43(1):1-26. doi: 10.1080/13816810.2021.1966053. Epub 2021 Aug 29. Ophthalmic Genet. 2022. PMID: 34455905 Review.
BACKGROUND: Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances and bilateral centrifugal vision loss. ...Patient-derived cell lines have facilitated th …
BACKGROUND: Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to mutations in ABCA4, characterized by …
Stargardt disease: Multimodal imaging: A review.
Heath Jeffery RC, Chen FK. Heath Jeffery RC, et al. Clin Exp Ophthalmol. 2021 Jul;49(5):498-515. doi: 10.1111/ceo.13947. Epub 2021 Jun 1. Clin Exp Ophthalmol. 2021. PMID: 34013643 Free PMC article. Review.
Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterised by bilateral progressive central vision loss and subretinal deposition of lipofuscin-like substances. Recent advances in molecular diagnosis and therapeutic options are complemented …
Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterised by bilateral progressive central vision l …
Retinal toxicities of systemic anticancer drugs.
Arora S, Surakiatchanukul T, Arora T, Errera MH, Agrawal H, Lupidi M, Chhablani J. Arora S, et al. Surv Ophthalmol. 2022 Jan-Feb;67(1):97-148. doi: 10.1016/j.survophthal.2021.05.007. Epub 2021 May 26. Surv Ophthalmol. 2022. PMID: 34048859 Review.
Most of the cases are mild with only anterior uveitis, but severe cases of posterior uveitis, panuveitis, and Vogt-Koyanagi-Harada-like disease may also occur. In the retina, a transient neurosensory detachment is observed in almost all patients on mitogen-activated protei …
Most of the cases are mild with only anterior uveitis, but severe cases of posterior uveitis, panuveitis, and Vogt-Koyanagi-Harada-like dise …
Microperimetry in Retinal Diseases.
Horie S, Corradetti G, Esmaeilkhanian H, Sadda SR, Cheung CMG, Ham Y, Chang A, Takahashi T, Ohno-Matsui K. Horie S, et al. Asia Pac J Ophthalmol (Phila). 2023 Mar-Apr 01;12(2):211-227. doi: 10.1097/APO.0000000000000597. Epub 2023 Mar 24. Asia Pac J Ophthalmol (Phila). 2023. PMID: 36971707 Free article.
Retinal microperimetry (MP) is a procedure that assesses the retinal sensitivity while the fundus is directly observed, and an eye tracker system is active to compensate for involuntary eye movements during testing. ...This is especially useful in the recent management of …
Retinal microperimetry (MP) is a procedure that assesses the retinal sensitivity while the fundus is directly observed, and an eye tr …
Early Endosome Morphology in Health and Disease.
Kaur G, Lakkaraju A. Kaur G, et al. Adv Exp Med Biol. 2018;1074:335-343. doi: 10.1007/978-3-319-75402-4_41. Adv Exp Med Biol. 2018. PMID: 29721961 Free PMC article. Review.
Defects in early endosome maturation are generally accompanied by alterations in morphology, such as increase in volume and/or number. Enlarged early endosomes have been observed in Alzheimer's disease and Niemann Pick Disease type C, which also exhibit defects in endocyti …
Defects in early endosome maturation are generally accompanied by alterations in morphology, such as increase in volume and/or number. Enlar …
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
Kaltak M, Blanco-Garavito R, Molday LL, Dhaenens CM, Souied EE, Platenburg G, Swildens J, Molday RS, Cremers FPM. Kaltak M, et al. J Transl Med. 2023 Aug 16;21(1):546. doi: 10.1186/s12967-023-04406-x. J Transl Med. 2023. PMID: 37587475 Free PMC article.
BACKGROUND: ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. ...METHODS: A STGD1 proband was compound heterozygous for the splice variant c.2653+1G>A, that was predicted to resu …
BACKGROUND: ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three …
244 results