Condition: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
rs137853298 in
SYN3;TIMP3 gene and
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
PMID 8981947 1997 Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
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 Subsequently, two separate mutations in TIMP3 were found in affected members of two unrelated SFD pedigrees (Tyr168Cys and Ser181Cys).
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 8728699 1996 We now report the occurrence of the Tyr168Cys mutation in an SFD patient of Austrian descent and show that this mutation found earlier in an American SFD family arose independently.
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.
PMID 8728699 1996 A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
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 8981947 1997 We identified a novel heterozygous Gly166Cys mutation in TIMP3 in all affected individuals and provide strong evidence for an autosomal dominant inheritance of the SFD phenotype in this family.