Klenotic, P. Implications for macular degenerations. Qi, J. Nature Med. Judge, D. Marfan's syndrome. Lancet , — Allikmets, R. Illing, M. The kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments.
Molday, L. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. One of the initial descriptions of ABCR's role in the retinoid cycle and in the pathophysiology of Stargardt disease, based on experiments with purified and reconstituted ABCR in vitro.
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Weng, J. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98 , 13—23 Fishman, G. Delayed rod dark adaptation in patients with Stargardt's disease. Ophthalmology 98 , — Delori, F. In vivo measurement of lipofuscin in Stargardt's disease — Fundus flavimaculatus. Mata, N. Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Demonstrates the accumulation of A2E in both a human Stargardt disease patient's eyes and in a mouse model of Stargardt disease.
Isolation and one-step preparation of A2E and iso-A2E, fluorophores from human retinal pigment epithelium. USA 95 , — Sparrow, J.
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A2E, a byproduct of the visual cycle. Demonstration of the cellular phototoxicity of A2E. Radu, R. Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration. USA , — Edwards, A. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.
Zhang, K. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Klein, R. Louis, A highly readable summary of AMD epidemiology.
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Maguire, M. Eisner, A. Sensitivities in older eyes with good acuity: eyes whose fellow eye has exudative AMD. Relations between fundus appearance and function. Eyes whose fellow eye has exudative age-related macular degeneration. Prevalence of age-related maculopathy. The Beaver Dam Eye Study. Ophthalmology 99 , — Mitchell, P. Prevalence of age-related maculopathy in Australia. The Blue Mountains Eye Study. Ophthalmology , — Vingerling, J.
The prevalence of age-related maculopathy in the Rotterdam Study. Seddon, J. Familial aggregation of age-related maculopathy.
Thornton, J. Smoking and age-related macular degeneration: a review of association. Eye 19 , — Heiba, I. Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study.
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Meyers, S. A twin study of age-related macular degeneration. Guymer, R. Marshall, J. Zarbin, M. Current concepts in the pathogenesis of age-related macular degeneration. Anderson, D. A role for local inflammation in the formation of drusen in the aging eye. Mullins, R. Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease.
One of the first descriptions of inflammation-associated protein deposits in drusen. Hageman, G. An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE—Bruch's membrane interface in aging and age-related macular degeneration. Eye Res. Johnson, L. Complement activation and inflammatory processes in Drusen formation and age related macular degeneration.
Along with reference 46, this paper was one of the first descriptions of inflammation-associated protein deposits in drusen. Crabb, J. Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. Describes the use of mass spectrometry to define the composition of microdissected drusen, revealing a wide variety of components.
Nozaki, M. Drusen complement components C3a and C5a promote choroidal neovascularization. Bressler, N.