Abstract
The inherited macular dystrophies comprise a heterogeneous group of disorders characterised by central visual loss and encompass a wide range of clinical, psychophysical, imaging and histopathological findings. The majority of disease-causing genes have now been identified. There are a small group of these disorders, including Sorsby fundus dystrophy, autosomal dominant drusen and late-onset retinal macular dystrophy, that present in later adult life and may be complicated by choroidal neovascularisation or macular atrophic changes similar to those seen in age-related macular degeneration.
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Berninger TA, Polkinghorne PJ, Capon MR, Arden GB, Bird AC. Color vision defect. A early sign of Sorsby retinal dystrophy? Ophthalmologe. 1993;90(5):515–8 [article in German].
Kapoor KG, Bakri SJ. Intravitreal anti-vascular endothelial growth factor therapy for choroidal neovascularization due to Sorsby macular dystrophy. J Ocul Pharmacol Ther. 2013;29(4):444–7.
Balaskas K, Hovan M, Mahmood S, Bishop P. Ranibizumab for the management of Sorsby fundus dystrophy. Eye (Lond). 2013;27(1):101–2.
Weber BH, Vogt G, Pruett RC, Stohr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby’s fundus dystrophy. Nat Genet. 1994;8(4):352–6.
Felbor U, Stöhr H, Amann T, Schonherr U, Weber BH. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby’s fundus dystrophy with unusual clinical features. Hum Mol Genet. 1995;4(12):2415–6.
Jacobson SG, Cideciyan AV, Bennett J, Kingsley RM, Sheffield VC, Stone EM. Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol. 2002;120(3):376–9.
Chong NH, Alexander RA, Gin T, Bird AC, Lutert PJ. TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby’s fundus dystrophy. Invest Ophthalmol Vis Sci. 2000;41(3):898–902.
Capon MR, Marshall J, Krafft JI, Alexander RA, Hiscott PS, Bird AC. Sorsby’s fundus dystrophy. A light and electron microscopic study. Ophthalmology. 1989;96(12):1769–77.
Stöhr H, Anand-Apte B. A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. Adv Exp Med Biol. 2012;723:261–7.
Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM. Night blindness in Sorsby’s fundus dystrophy reversed by vitamin A. Nat Genet. 1995;11(1):27–32.
Majid MA, Smith VA, Easty DL, Baker AH, Newby AC. Sorsby’s fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells. FEBS Lett. 2002;529(2–3):281–5.
Qi JH, Ebrahem Q, Moore N, Murphy G, Claesson-Welsh L, Bond M, et al. A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2. Nat Med. 2003;9(4):407–15.
Weber BH, Lin B, White K, Kohler K, Soboleva G, Herterich S, et al. A mouse model for Sorsby fundus dystrophy. Invest Ophthalmol Vis Sci. 2002;43(8):2732–40.
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© 2016 Springer International Publishing Switzerland
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Michaelides, M., Moore, A. (2016). Sorsby Fundus Dystrophy. In: Querques, G., Souied, E. (eds) Macular Dystrophies. Springer, Cham. https://doi.org/10.1007/978-3-319-26621-3_7
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DOI: https://doi.org/10.1007/978-3-319-26621-3_7
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