Sorsby's fundus dystrophy in two Japanese families with unusual clinical features

Japanese Journal of Ophthalmology

Volumn 43, Issue 6, 1999, Pages 472-480

  Isashiki, Yasushi ^a   Tabata, Yoshiaki ^a   Kamimura, Kousaku ^a   Ohba, Norio ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Japanese; Sorsby's fundus dystrophy; Unusual clinical features

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DYSTROPHY; EYE FUNDUS; FEMALE; GENE MUTATION; HUMAN; JAPAN; MALE; PEDIGREE; PERIMETRY; PRIORITY JOURNAL; RACE DIFFERENCE; RETINA DYSTROPHY; RETINA MACULA DEGENERATION;

AGED; AGED, 80 AND OVER; BLINDNESS; FEMALE; HUMANS; JAPAN; MACULA LUTEA; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RETINAL DRUSEN; RETINAL HEMORRHAGE; TISSUE INHIBITOR OF METALLOPROTEINASE-3; VISUAL ACUITY; VISUAL FIELDS;

EID: 0032754555     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(99)00117-3     Document Type: Article

References (23)

1. Sorsby A., Masson M.E.J., Gardener N. A fundus dystrophy with unusual features. Late onset and dominant inheritance of a central retinal lesion showing oedema, haemorrhage and exudates developing into generalized choroidal atrophy with massive pigment proliferation. Br J Ophthalmol. 33:1949;67-97.
2. Hoskin A., Sehmi K., Bird A.C. Sorsby's pseudo-inflammatory macular dystrophy. Br J Ophthalmol. 65:1981;859-865.
3. Capon M.R.C., Polkinghorne P.J., Fitzke F.W., Bird A.C. Sorsby's pseudoinflammatory macular dystrophy - Sorsby's fundus dystrophy. Eye. 2:1988;114-122.
4. Polkinghorne P.J., Capon M.R.C., Berninger T., Lyness A.L., Sehmi K., Bird A.C. Sorsby's fundus dystrophy. A clinical study. Ophthalmology. 96:1989;1763-1768.
5. Hamilton W.K., Ewing C.C., Ives E.J., Carruthers J.D. Sorsby's fundus dystrophy. Ophthalmology. 96:1989;1755-1762.
6. Forsius H.R., Eriksson A.W., Suvanto E.A., Alanko H.I. Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. Am J Ophthalmol. 94:1982;634-649.
7. Peters A.L., Greenberg J. Sorsby's fundus dystrophy. A South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22. Retina. 15:1995;480-485.
8. Wu G., Pruett R.C., Baldinger J., Hirose T. Hereditary hemorrhagic macular dystrophy. Am J Ophthalmol. 111:1991;294-301.
9. Carrero-Valenzueda R.D., Klein M.L., Weleber R.G., Murphey W.H., Litt M. Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. Arch Ophthalmol. 114:1996;737-738.
10. Capon M.R.C., Marshall J., Kraft J.I., Alexander R.A., Hiscott P.S., Bird A.C. Sorsby's fundus dystrophy. A light and electron microscopic study. Ophthalmology. 96:1989;1769-1777.
11. Weber B.H.F., Vogt G., Pruett R.C., Stöhr H., Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet. 8:1994;352-356.
12. Felbor U., Stöhr H., Amann T., Schönherr U., Weber B.H.F. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet. 4:1995;2415-2416.
13. Jacobson S.G., Cideciyan A.V., Regunath G.et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nature Genet. 11:1995;27-32.
14. Felbor U., Stöhr H., Amann T., Schönherr U., Apfelstedt-Sylla E., Weber B.H.F. A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. J Med Genet. 33:1996;233-236.
15. Felbor U., Suvanto E.A., Forsius H.R., Eriksson A.W., Weber B.H.F. Autosomal recessive Sorsby fundus dystrophy revisited. molecular evidence for dominant inheritance Am J Hum Genet. 60:1997;57-62.
16. Wijesuriya S., Evans K., Jay M.R.et al. Sorsby's fundus dystrophy in the British isles. demonstration of a striking founder effect by microsatellite-generated haplotypes Genome Res. 6:1996;92-101.
17. Felbor U., Benkwitz C., Klein M.L., Greenberg J., Gregory C.Y., Weber B.H.F. Sorsby fundus dystrophy. Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. Arch Ophthalmol. 115:1997;1569-1571.
18. Tabata Y., Isashiki Y., Kamimura K., Ohba N. A novel splice site mutation in the tissue inhibitor of metalloproteinases-3 in Sorsby's fundus dystrophy with unusual clinical features. Hum Genet. 103:1998;179-182.
19. Hyman L.G., Lilienfeld A.M., Ferris F.L. III, Fine S.L. Senile macular degeneration. a case-control study Am J Epidemiol. 118:1983;213-227.
20. Waardenburg P.J. Affections of the fovea centralis. Waardenburg P.J., Franceschetti A., Klein D. Genetics and ophthalmology. vol. II. 1963;1719-1774 Blackwell Scientific Publications, Oxford.
21. Bressler N.M., Bressler S.B., Fine S.L. Age-related macular degeneration. Survey Ophthalmol. 32:1988;375-413.
22. Paz D.L.M.A., Vance P.M.A., Lennon F., Hainer J.L., Seddon J.M. Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. Invest Ophthalmol Vis Sci. 38:1997;1060-1065.
23. Felbor U., Doepner D., Schneider U., Zrenner E., Weber B.H.F. Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Invest Ophthalmol Vis Sci. 38:1997;1054-1059.