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GENATLAS PHENOTYPE
last update : 1/02/2006
Symbol SFD
Location 22q12.3
Name pseudoinflammatory fundus dystrophy of Sorsby
Other name(s) Sorsby syndrome
Corresponding gene TIMP3
related resource Retinal Information Network
Main clinical features
  • about the age of 40 years, beginning as a central (macular) lesion showing edema, hemorrhage, and exudates; in the course of years, atrophy with pigmentation and extension peripherally occurred, the choroidal vessels became exposed and appeared somewhat sclerotic
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name metalloproteinase, tissue inhibitor 3 (TIMP3)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     prominent mutation S181C in UK, leading to resistance to turnover, resulting from intermolecular disulfide bond formation, providing a possible explanation for the increased deposition of the protein observed in eyes
    Remark(s)