Abstract
This chapter deals with Stargardt disease, an autosomal recessive disorder caused by mutations in the ATP-binding cassette (ABC) transporter gene, ABCA4. In OMIM other diseases are identified under the name Stargardt disease (60010, 603786, 612948). These have a phenotype that resembles Stargardt disease but differ genetically and clinically. They should be named Stargardt-like disorders and will be considered separately.
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References
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive stargardt macular dystrophy. Nat Genet. 1997;15:236–46.
Blacharski PA. Fundus flavimaculatus. In: Newsome DA, editor. Retinal dystrophies and degenerations. New York: Raven; 1988. p. 135–59.
Birnbach CD, Järveläinen M, Possin DE, Milam AH. Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. Ophthalmology. 1994;7:1211–9.
De Laey JJ, Verougstraete C. Hyperlipofuscinosis and subretinal fibrosis in Stargardt’s disease. Retina. 1995;15:399–406.
Franceschetti A. Ueber tapeto-retinale Degenerationen in Kindesalter. In: Entwicklung und Fortschitt in der Augenkeilkunde. Stuttgart: Enke Verlag; 1963. p. 107–20.
Kaplan J, Gerber S, Larget-Piet D, Rozet J-M, Dollfus H, Dufier J-L, Odent S, Postel-Vinay A, Janin N, Briard M-L, Frezal J, Munnich A. A gene for Stargardt’s disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet. 1993;5:308–11.
Klien BA, Krill AE. Fundus flavimaculatus: clinical, functional and histopathologic observations. Am J Ophthalmol. 1967;64:3–23.
Lois N, Holer GE, Bunce C, Fitzke FW, Bird AC. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol. 2001;119:359–69.
Lois N, Halfyard AS, Bird AC, Holder GE, Fitzke FW. Fundus autofluorescence in Stargardt macular dystrophy. Am J Ophthalmol. 2004;138:55–63.
Molday RS, Zhang K. Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration. Prog Lipid Res. 2010;49:476–92.
Querques G, Lveziel N, Benhamou N, Voigt M, Soubrane G. Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography. Br J Ophthalmol. 2006;90:1157–62.
Radu RA, Mata NL, Nusinowitz S, Liu X, Sieving PA, Travis GH. Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model. Of recessive Stargardt’s macular degeneration. Proc Natl Acad Sci U S A. 2003;100:4742–7.
Radu RA, Han Y, Bui TV, Nusinowitz S, Bok D, Lichter J, Widder K, Travis GH, Mata NL. Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: a potential therapy for treatment of lipofuscin-based retinal diseases. Invest Ophthalmol Vis Sci. 2005;46:4393–401. Erratum in: Invest Ophthalmol Vis Sci. 2006;47:3735.
Stargardt K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch Klin Exp Ophthalmol. 1909;71:534–49.
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Puech, B., De Laey, JJ. (2014). Stargardt Disease. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_17
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DOI: https://doi.org/10.1007/978-3-540-69466-3_17
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