Sorsby's fundus dystrophy

A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous m

A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.

Signs and symptoms

• Blindness
• Macular dystrophy
• Abnormal electroretinogram
• Glaucoma
• Chorioretinal atrophy

Also known as: SFD; hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby