Doyne Honeycomb Macular Dystrophy
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References
Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet. 2007 Oct 15;16(20):2411-22.
Marmorstein L. Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review. Ophthalmic Genet. 2004 Sep;25(3):219-26. Review.
Dantas MA, Slakter JS, Negrao S, Fonseca RA, Kaga T, Yannuzzi LA. Photodynamic therapy with verteporfin in mallatia leventinese. Ophthalmology. 2002 Feb;109(2):296-301.
Stone EM, Lotery AJ, Munier FL, H?(c)on E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999 Jun;22(2):199-202.