Abstract
Some of the difficulties in studying age-related macular degeneration (ARMD) are its late onset,complex genetics and probable strong environmental component (Zack et al., 1999). Thus it has been proposed, that to gain a better understanding of this disease, it might be useful to study related clinical diseases such as Sorsby fundus dystrophy, Stargardt disease and Best disease, that demonstrate early onset forms of macular degeneration with simple Mendelian inheritance patterns. Sorsby fundus dystrophy (SFD) is a fully penetrant, autosomal dominant retinal dystrophy disease that was first described by Sorsby in 1949 (Sorsby and Jo11 Mason,1949). Clinically, patients first complain of night blindness, which is usually followed by central visual loss from subretinal neovascularization and haemorrhage with a late loss of peripheral vision(Capon et al., 1988; (Hamilton et al., 1989; Hoskin et al., 1981; Polkinghorne et al.,1989a; Sorsby and Joll Mason,1949; Wu et al., 1991). SFD is a relatively rare disease, but commands considerable interest because of its striking similarity to age-related macular degeneration (ARMD),the leading cause of blindness in individuals over the age of 50 years in the western world.
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Qi, J.H., Ebrahem, Q., Anand-Apte, B. (2003). Tissue Inhibitor of Metalloproteinases-3 and Sorsby Fundus Dystrophy. In: LaVail, M.M., Hollyfield, J.G., Anderson, R.E. (eds) Retinal Degenerations. Advances in Experimental Medicine and Biology, vol 533. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0067-4_13
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