Sorsby's Fundus Dystrophy

Polkinghorne, Philip J; Capon, M. R. C.; Berninger, Thomas; Lyness, A L; Sehmi, Kulwant; Bird, Alan C.

doi:10.1016/s0161-6420(89)32654-6

Cited by 86 publications

(40 citation statements)

References 6 publications

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“…It is characterized by major thickening of the Bruch membrane and a prolonged choroidal filling phase upon fluorescein angiography (42). Normally, when fluorescein sodium is injected intravenously, the dye leaks freely from the choriocapillaris and becomes bound to polar compounds in the Bruch membrane.…”

Section: Structural Changes To the Choroid In Amdmentioning

confidence: 99%

Therapeutic targets in age-related macular disease

Bird¹

2010

J. Clin. Invest.

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Age-related macular disease (AMD) accounts for more than 50% of blind registration in Western society. Patients with AMD are classified as having early disease, in which visual function is well preserved, or late disease, in which central vision is lost. Until recently, there was no therapy available by which the course of the disorder could be modified. Now, the most common form of late-stage AMD -choroidal neovascularization -responds to treatment with anti-VEGF therapies; although visual loss is modified in a portion of these cases, no therapeutic approach exists that alters the evolution from early to late disease. However, as discussed in this Review, research over the last few years has demonstrated several features of AMD that are likely to be amenable to treatment. Potential targets for treatment are described, and possible therapeutic approaches are discussed.

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Section: Structural Changes To the Choroid In Amdmentioning

confidence: 99%

Therapeutic targets in age-related macular disease

Bird¹

2010

J. Clin. Invest.

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156

146

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“…As a result of studies on Sorsby fundus dystrophy, [68][69][70] it was suggested that a prolonged choroidal filling phase on fluorescein angiography may be a clinical sign of diffuse thickening of Bruch's membrane. In this autosomal dominant condition, a continuous layer of abnormal material of up to 30 mm in thickness is deposited between the inner collagenous layer of Bruch's membrane and the basement membrane of the RPE.…”

Section: Bruch's Membranementioning

confidence: 99%

“…71 In contrast with the normal rapid filling, a contiguous area of prolonged, patchy choroidal fluorescence is seen during the transit phase of fluorescein angiography. [68][69][70] The dye appears initially in the inner choroid as small points of fluorescence that gradually enlarge and coalesce with one another over several frames of the angiogram. Continuous fluorescence indistinguishable from the surrounding normal fundus is not apparent until the late venous phase of the retinal circulation.…”

Section: Bruch's Membranementioning

confidence: 99%

Towards an understanding of age-related macular disease

Bird

2003

Eye

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“…For example, in spite of a number of detailed clinical studies on family 6, one individual clinically assessed as affected (see Fig. 3 in Polkinghorne et al 1989), on repeated molecular genetic testing does not carry the Ser18!Cys mutation or the disease-associated hap!otype segregating in his family. It is therefore possible that phenocoples of maculopathies exist, which may be important to consider when genetically eval-uating late-onset conditions such as SFD and ARMD.…”

Section: @ Genome Researchmentioning

confidence: 99%

“…These distinct features of the disease distinguish it from other clinical entities such as age-related macular degeneration and dominant drusen phenotypes. Detailed clinical data on three of these families (families 2, 6, and 12) have been described elsewhere (Sorsby and Mason 1949;Polkinghorne et al 1989). Additionally, nonretinal disease was seen to segregate significantly with the SFD phenotype in three families.…”

Section: Pedigreesmentioning

confidence: 99%

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.

Wijesuriya¹,

Evans²,

Jay³

et al. 1996

Genome Res.

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Sorsby's fundus dystrophy {SFD} has been mapped to a genetic interval of 8 cM between loci D225275 and D22S278. A total of 15 families, unrelated on the basis of genealogy and expressing the SFD phenotype were identified from a large data base of genetic eye disease families originating from diverse parts of the British Isles. The identification of the same SerlSICys mutation cosegregating with disease in each family led us to consider the hypothesis of a founder effect being present. In all families studied, the same relatively infrequent allele (occurring in just 11°/0 of the control group} was associated with disease at marker locus D22S280. A highly significant disease-associated haplotype, spanning across 3 cM of the SFD locus, was conserved in 11 of the 15 families {68% of all affected chromosomes}; a further extended haplotype spanning up to 7 cM, was identified in 5 families {27% of SFD-associated chromosomes} and possibly represents the ancestral haplotype. This haplotype analysis has refined the TlhlP3 gene localization to a I-to 3-cM interval between marker loci D22S273 and D22S281 and provides strong evidence for a single mutational event being responsible for the majority of SFD identified in the British Isles.

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Sorsby's Fundus Dystrophy

Cited by 86 publications

References 6 publications

Therapeutic targets in age-related macular disease

Therapeutic targets in age-related macular disease

Towards an understanding of age-related macular disease

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.

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