Variant: rs137853300 

    present in Gene: TIMP3;SYN3
    present in Chromosome: 22
    Position on Chromosome: 32859277
    Alleles of this Variant: C/G

rs137853300 in TIMP3;SYN3 gene and FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY PMID 8634721 1995 A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.

PMID 8728699 1996 More recently, two additional SFD related mutations, Ser156Cys and Gly167Cys, have provided further confirmation that heterozygous mutations in TIMP3 are causally responsible for the SFD phenotype.

PMID 7894485 1994 Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.

PMID 7550309 1995 Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.

PMID 8981947 1997 Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.