fundus dystrophy, pseudoinflammatory, of Sorsby

fundus dystrophy, pseudoinflammatory, of Sorsby

A rare autosomal dominant (OMIM:136900) macular disorder that first appears around age 30 with loss of central vision due to subretinal neovascularisation and retinal atrophy. Macular disciform degeneration usually develops in 6 months to 6 years.

Molecular pathology
Caused by defects of TIMP3, which encodes a member of the tissue inhibitor of matrix metallopeptidase (TIMP) family.
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