Sorsby fundus dystrophy

Definition:

Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of peripheral vision. The onset is usually in the third to fifth decade of life. The tissue inhibitor of metalloproteinase 3 (TIMP3) is associated with the disease.

References:

[1]. M A Musarella, et al. Molecular genetics of macular degeneration. Doc Ophthalmol. 2001 May;102(3):165-77. [Content Brief]

[2]. W K Hamilton, et al. Sorsby's fundus dystrophy. Ophthalmology. 1989 Dec;96(12):1755-62. [Content Brief]

[3]. Zheng Li, et al. TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. Expert Rev Mol Med. 2005 Oct 31;7(24):1-15. [Content Brief]

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