Sorsby fundus dystrophy (SFD) is an autosomal dominant macula dystrophy with middle age onset. Patients lose central vision as a result of extra-cellular deposits and thickening in Bruch’s membrane, sub-retinal neovascularization, and atrophy of the ocular tissues. The SFD phenotype shares extensive clinical similarity with age-related macular degeneration (AMD), in particular the more severe or “wet” form of AMD. Mutations in the gene encoding tissue inhibitor of metalloproteinases-3 (TIMP-3) have been shown to be responsible for SFD. These mutations are confined to exon 5 of TIMP-3 and its intron4/exon5 acceptor splice site
Mutation screening is available for affected individuals with suspected SFD. Pre-symptomatic testing is available for families with a previously identified mutation.
Mutation scanning is carried out by bi-directional sequencing of exon 5 and the intron 4/exon 5 splice acceptor site of the TIM-3 gene.
Price & reporting times
|Test||Price NHS (£)||Price non-NHS (£)||TRT (calendar days)|
|Urgent/Predictive single mutation test||POA||POA||14|
Test validation & quality assurance - information for users
4ml EDTA blood sample
Please see our referral guidelines for more information.
OMIM Number(s) - 136900
Gene(s) - TIMP3