The bisretinoids of retinal pigment epithelium.
Janet R. Sparrow,Emily Gregory-Roberts,Kazunori Yamamoto,Anna Blonska,Shanti Kaligotla Ghosh,Keiko Ueda,Jilin Zhou +6 more
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TLDR
The current understanding of the composition of RPE lipofuscin, the structural characteristics of the various bisretinoids, their related spectroscopic features and the biosynthetic pathways by which they form are reviewed.About:
This article is published in Progress in Retinal and Eye Research.The article was published on 2012-03-01 and is currently open access. It has received 317 citations till now. The article focuses on the topics: Retinal pigment epithelium & Retinal degeneration.read more
Citations
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Chemistry of the Retinoid (Visual) Cycle
TL;DR: The involvement of retinoids in supporting vision via light-sensitive rod and cone photoreceptor cells in the retina is focused on, which is essential for carotenoid production.
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Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
Preena Tanna,Rupert W. Strauss,Rupert W. Strauss,Rupert W. Strauss,Kaoru Fujinami,Kaoru Fujinami,Michel Michaelides,Michel Michaelides +7 more
TL;DR: The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored.
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Nanotechnology-based strategies for treatment of ocular disease.
TL;DR: Recent attempts of nanotechnology-based systems for imaging and treating ocular diseases, such as corneal d iseases, glaucoma, retina diseases, and choroid diseases are highlighted.
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Aging is not a disease: Distinguishing age-related macular degeneration from aging
Daniel Ardeljan,Chi-Chao Chan +1 more
TL;DR: This review highlights pathogenic changes that destabilize ocular homeostasis and promote AMD development and describes how the body establishes a balance between normal age-related changes and the pathological phenotypes in AMD.
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Quantitative Autofluorescence and Cell Density Maps of the Human Retinal Pigment Epithelium
Thomas Ach,Carrie Huisingh,Gerald McGwin,Jeffrey D. Messinger,Tianjiao Zhang,Mark J. Bentley,Danielle B. Gutierrez,Zsolt Ablonczy,R. Theodore Smith,Kenneth R. Sloan,Christine A. Curcio +10 more
TL;DR: Digital maps of quantitative AF, cell density, and packing geometry provide metrics for cellular-resolution clinical imaging and model systems and challenges LF's role in AMD.
References
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Complement Factor H Polymorphism in Age-Related Macular Degeneration
Robert J. Klein,Caroline J. Zeiss,Emily Y. Chew,Jen-yue Tsai,Richard S. Sackler,Chad Haynes,A. K. Henning,John Paul SanGiovanni,Shrikant Mane,Susan T. Mayne,Michael B. Bracken,Frederick L. Ferris,Jurg Ott,Colin J. Barnstable,Josephine Hoh +14 more
TL;DR: A genome-wide screen for polymorphisms associated with age-related macular degeneration revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402 in the complement factor H gene.
Journal ArticleDOI
Complement factor H variant increases the risk of age-related macular degeneration.
Jonathan L. Haines,Michael A. Hauser,Silke Schmidt,William K. Scott,Lana M. Olson,Paul Gallins,Kylee L. Spencer,Shu Ying Kwan,Maher A. Noureddine,John R. Gilbert,Nathalie Schnetz-Boutaud,Anita Agarwal,Eric A. Postel,Margaret A. Pericak-Vance +13 more
TL;DR: DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57, which likely explains ∼43% of AMD in older adults.
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Complement Factor H Polymorphism and Age-Related Macular Degeneration
Albert O. Edwards,Robert C. Ritter,Kenneth Abel,Alisa K. Manning,Carolien I.M. Panhuysen,Lindsay A. Farrer +5 more
TL;DR: In this paper, single-nucleotide polymorphisms were tested for association with AMD in two independent case-control populations and significant association was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor.
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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
Gregory S. Hageman,Don H. Anderson,Lincoln V. Johnson,Lisa S. Hancox,Andrew J Taiber,Lisa I. Hardisty,Jill L. Hageman,Heather Stockman,James D. Borchardt,Karen M. Gehrs,Richard J.H. Smith,Giuliana Silvestri,Stephen R. Russell,Caroline C W Klaver,Irene Barbazetto,Stanley Chang,Lawrence A. Yannuzzi,Gaetano R. Barile,John C. Merriam,R. Theodore Smith,Adam Olsh,Julie Bergeron,Jana Zernant,Joanna E. Merriam,Bert Gold,Michael Dean,Rando Allikmets +26 more
TL;DR: It is shown that factor H (HF1), the major inhibitor of the alternative complement pathway, accumulates within drusen and is synthesized by the retinal pigmented epithelium, implicating HF1 function in the pathogenetic mechanisms underlying AMD.
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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
Rando Allikmets,Nanda A. Singh,Hui Sun,Noah F. Shroyer,Amy Hutchinson,Abirami Chidambaram,Bernard Gerrard,Lisa Baird,Dora Stauffer,Andy Peiffer,Amir Rattner,Philip M. Smallwood,Yixin Li,Kent L. Anderson,Richard A. Lewis,Jeremy Nathans,Mark Leppert,Michael Dean,James R. Lupski +18 more
TL;DR: Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage, indicating that ABCR is the causal gene of STGD/FFM.