Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa

British Journal of Ophthalmology

Volumn 82, Issue 11, 1998, Pages 1329-1334

  Fariss, Robert N ^a   Apte, Suneel S ^b   Luthert, Philip J ^c   Bird, Alan C ^d   Milam, Ann H ^a,e  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b LERNER RESEARCH INSTITUTE   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PARAFFIN; STROMELYSIN; STROMELYSIN INHIBITOR;

AGED; ANTIGEN RETRIEVAL; ARTICLE; BIOACCUMULATION; BRUCH MEMBRANE; CASE REPORT; CELL MIGRATION; CONTROLLED STUDY; DYSTROPHY; ENZYME LOCALIZATION; EXTRACELLULAR MATRIX; EYE FUNDUS; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MICROSCOPY; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA BLOOD VESSEL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SUBRETINAL NEOVASCULARIZATION;

EID: 0031726862     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.82.11.1329     Document Type: Article

References (37)

1. Sorsby A, Mason MEJ, Gardener N. A fundus dystrophy with unusual features. Br J Ophthalmol 1949;33:67-97.
2. Capon MRC, Marshall J, Krafft JI, et al. Sorsby's fundus dystrophy. A light and electron microscopic study. Ophthalmology 1989;96:1769-77.
3. Steinmetz RL, Polkinghorne PC, Fitzke FW, et al. Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. Invest Ophthalmol Vis Sci 1992;33:1633-6.
4. Polkinghorne PJ, Capon MRC, Berninger T, et al. Sorsby's fundus dystrophy. A clinical study. Ophthalmology 1989;96: 1763-8.
5. Weber BHF, Vogt G, Pruett RC, et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet 1994;8:352-6.
6. Jacobson SG, Cideciyan AV, Regunath G, et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nature Genet 1995;11:27-32.
7. Peters AL, 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 1995;15:480-5.
8. Carrero-Valunzuela RD, Klein ML, Weleber RG, et al. Sorsby fundus dystrophy: a family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. Arch Ophthalmol 1996;114:737-8.
9. Felbor U, Stöhr H, Amann T, et al. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP-3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet 1995;4:2415-16.
10. Wijesuriya SD, Evans K, Jay MR, et al. Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res 1996;6:92-101.
11. Felbor U, Suvanto EA, Forsius HR, et al. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Am J Hum Genet 1997;60:57-62.
12. Sieving PA, Boskovich S, Bingham E, et al. Sorsby's fundus dystrophy in a family with a Ser-181-Cys mutation in the TIMP-3 gene: poor outcome after laser photocoagulation. Trans Am Ophthalmol Soc 1996;94:275-94.
13. Pavloff N, Staskus PW, Kishnani NS, et al. A new inhibitor of metalloproteinases from chicken: ChIMP-3. A third member of the TIMP family. J Biol Chem 1992;267:17321-6.
14. Apte SS, Olsen BR, Murphy G. The gene structure of tissue inhibitor of metalloproteinases-3 (TIMP-3) and its inhibitory activities define the distinct TIMP gene family. J Biol Chem 1995;270:14313-18.
15. Apte SS, Mattel M-G, Olsen BR. Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP-3 gene to chromosome 22. Genomics 1994;19:86-90.
16. Fariss RN, Apte SS, Olsen BR, et al. Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of the eye. Am J Path 1997;150:323-8.
17. Vranka JA, Johnson E, Zhu X, et al. Discrete expression and distribution pattern of TIMP-3 in the human retina and choroid. Curr Eye Res 1997;16:102-10.
18. Kamei M, Apte SS, Rayborn ME, et al. TIMP-3 accumulation in Bruch's membrane and drusen in eyes from normal and age-related macular degeneration donors. In: LaVail MM, Anderson RE, Hollyfield JG, eds. Degenerative diseases of the retina. New York: Plenum Press, 1997.
19. Ruiz A, Brett P, Bok D. TIMP-3 is expressed in the human retinal pigment epithelium. Biochem Biophys Res Commun 1996;226:467-74.
20. Della NG, Campochiaro PA, Zack DJ. Localization of TIMP-3 mRNA expression to the retinal pigment epithelium. Invest Ophthalmol Vis Sci 1996;37:1921-4.
21. Jomary C, Neal MJ, Iwata K, et al. Localization of tissue inhibitor of metalloproteinases-3 in neurodegenerative retinal disease. Neuroreport 1997;8:2169-72.
22. Acott TS, Weleber RG. Vitamin A megatherapy for retinal abnormalities. Nature Med 1995;1:884-5.
23. Kuntz CA, Jacobson SG, Cideciyan AV, et al. Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Invest Ophthalmol Vis Sci 1996;37:1772-82.
24. Milam AH, Li Z-Y, Fariss RN. Histopathology of the human retina in retinitis pigmentosa. Prog Ret Eye Res 1998;17: 175-205.
25. Li Z-Y, Possin DE, Milam AH. Histopathology of bone spicule pigmentation in retinitis pigmentosa. Ophthalmology 1995;102:805-16.
26. Capon MRC, Polkinghorne PJ, Fitzke FW, et al. Sorsby's pseudoinflammatory macular dystrophy - Sorsby's fundus dystrophies. Eye 1988;2:114-22.
27. Li Z-Y, Jacobson SG, Milam AH. Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry. Exp Eye Res 1994;58:397-408.
28. Shi S-R, Imam A, Young L, et al. Antigen retrieval immunohistochemistry under the influence of pH using monoclonal antibodies. J Histochem Cytochem 1995;43:193-201.
29. Strongin AY, Collier I, Bannikov G, et al. Mechanism of cell surface activation of 72-kDa type IV collagenase. Isolation of the activated form of the membrane metalloprotease. J Biol Chem 1995;270:5331-8.
30. Anand-Apte B, Pepper MS, Voest E, et al. Inhibition of angiogenesis by tissue inhibitor of metalloproteinase-3. Invest Ophthalmol Vis Sci 1997;38:817-23.
31. Felbor U, Doepner D, Schneider U, et al. Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Invest Ophthalmol Vis Sci 1997;38:1054-9.
32. De La Paz MA, Pericak-Vance MA, Lennon F, et al. Exclusion of TIMP-3 as a candidate locus in age-related macular degeneration. Invest Ophthalmol Vis Sci 1997;38:1060-5.
33. Jones SE, Jomary C, Neal MJ. Expression of TIMP3 mRNA is elevated in retinas affected by simplex retinitis pigmentosa. FEBS Lett 1994;352:171-4.
34. Jomary C, Neal MJ, Jones SE. Increased expression of retinal TIMP3 mRNA in simplex retinitis pigmentosa is localized to photoreceptor-retaining regions. J Neurochem 1995; 64:2370-3.
35. Stone JL, Barlow WE, Humayun MS, et al. Morphometric analysis of macular photoreceptors and ganglion cells in retinas with retinitis pigmentosa. Arch Ophthalmol 1992; 110:1634-9.
36. Santos A, Humayun MS, de Juan E Jr, et al. Preservation of the inner retina in retinitis pigmentosa. A morphometric analysis. Arch Ophthalmol 1997;115:511-15.
37. Grunwald JE, Maguire AM, Dupont J. Retinal hemodynamics in retinitis pigmentosa. Am J Ophthalmol 1996;122:502-8.