Malattia Leventinese holds its name from the beautiful Leventine Valley in Ticino, Southern Switzerland, from which all the Swiss families touched by this disease come from. It is an autosomal, dominant retinal dystrophy, first described by ophthalmologists in 1925 (Vogt, 1925). A characteristic hallmark of Malattia Leventinese, extracellular, amorphous deposits known as drusen, between the retinal pigment epithelium (RPE) and Bruch’s membrane (Doyne, 1899), are also an early hallmark of age related macular degeneration (AMD), which accounts for approximately 50% of registered blindness in the developed world (Bressler et al., 1988). Malattia Leventinese exhibits features more consistent with AMD than any other heritable macular disorder so it is easy to understand why it should be considered as a burning issue, specially when taking into consideration the fact that the population affected by AMD is expected to nearly double in the next 25 years.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Argraves, W. S., Greene, L. M., Cooley, M. A., and Gallagher, W. M., 2003, Fibulins: physiological and disease perspectives, EMBO reports. 4:12
Bressler, N. M., Bressler, S. B., and Fine, S. L., 1988, Age-related macular degeneration, Surv. Ophtalmol. 32:375
Dietz, H. C., Cutting, C. R., Pyeritz, R. E., Maslen, C. L., Sakai, L. Y., Corson, G. M., Puffenberger, E. G., Hamosh, A., Nanthakumar, E. J., Curristin, S. M., Stetten, G., Meyers, D. A., and Francomano, C. A., 1991, Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene, Nature. 352:337
Dietz, H. C., Saraiva, J. M., Pyeritz, R. E., Cutting, G. R., and Francomano, C. A., 1992, Clustering of fibrillin (FBN1) missense mutation in Marfan syndrome patients at cysteine residues in EGF-like domains, Hum.Mutat. 1:5
Doyne, R. W., 1899, Peculiar condition of choroiditis occurring in several members of the same family, Trans. Ophthalmol. Soc. UK. 19
Forni, S., Babel, J., 1962, Etude clinique et histologique de la malattia leventinese: affection appartenant en groupe des dégénérescences hyalines du pole postérieur, Ophtalmologica. 143
Giltay, R., Timpl, R., and Kostka, G., 1999, Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4, Matrix Biol. 18:5
Heon, E., Piguet, B., Munier, F., Sneed, S. R., Morgan, C. M., Forni, S., Pescia, G., Schorderet, D., Taylor, C. M., Streb, L. M., Wiles, C. D., Nishimura, D. Y., Sheffield, V. C., and Stone, E. M., 1996, Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21, Arch. Ophthalmol. 114:2
Ikegawa, S., Toda, T., Okui, K., and Nakamura, Y., 1996, Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin, Genomics. 35:3
Klenotic, P. A., Munier, F. L., Marmorstein, L. Y., and Anand-Apte, B., 2004, Tissue inhibitor of metalloproteinases 3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1), J. Biol. Chem. 279:29
Langton, K. P., McKie, N., Curtis, A., Goodship, J. A., Bond, P. M., Barker, M. D., and Clarke, M., 2000, A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby’s fundus dystrophy, J. Biol. Chem. 275:35
Lecka-Czernik, B., Lumpkin, C. K. J., and Goldstein, S., 1995, An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis, Mol. Cell. Biol. 15:1
Marmorstein, L. Y., Munier, F. L., Arsenijevic, Y., Schorderet, D. F., McLaughlin, P. J., Chung, D., Traboulsi, E., and Marmorstein, A.D., 2002, Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration, Proc. Natl. Acad. Sci. USA. 99:20
Marmorstein, L. Y., 2004, association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review, Ophtalmic Genet. 25:3
Piguet, B., Haimovici, R., and Bird, A. C., 1995, Dominantly inherited drusen represent more than one disorder: a historical review, Eye. 9:34
Rebay, I., Fleming, R. J., Fehon, R. G., Cherbas, L., Cherbas, P., and Artavanis-Tsakonas, S., 1991, Specific EGF repeats of Notch mediate interactions with Delta and Serrate: implications for Notch as a multifunctional receptor, Cell. 67:4
Schultz, D. W., Klein, M. L., Humpert, A. J., Luzier, C. W., Persun, V., Schain, M., Mahan, A., Runckel, C., Cassera, M., Vittal, V., Doyle, T. M., Martin, T. M., Weleber, R. G., Francis, P. J., and Acott, T. S., 2003, Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family, Hum. Mol.Genet. 12:24
Stone, E. M., Lotery, A. J., Munier, F. M., Héon, E., Piguet, B., Guymer, R. H., Vandenburgh, K., Cousin, P., Nishimura, D., swiderski, R. E., Silvestri, G., Mackey, D. A., Hageman, G. S., Bird, A. C., Sheffield, V. C., and Schorderet, D. F., 1999, A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy, Nature Genet. 22:2
Stone, E. M., Braun, T. A., Russel, R. S., Kuehn, M. H., Lotery, A. J., Moore, P. A., Eastman, C. G., Casavant, T. L., and Sheffield, V. C., 2004, Missense variations in the fibulin 5 gene and age-related macular degeneration, N Engl J Med. 351:4
Timpl, R., Sasaki, T., Kostka, G., and Chu, M. L., 2003, Fibulins: a versatile family of extracellular matrix proteins, Nature Rev. Mol. Cell Biol. 4:6
Vogt, A., 1925, Die Ophthalmoskopie im Rotfreien Licht. In Handbuch der Gesammten Augenheikunde. Untersuchungsmethoden., Verlag von Wilhelm Engelman, Berlin, pp.1–118.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Kundzewicz, A., Munier, F., MarcMatter, J. (2008). Expression and Cell Compartmentalization of EFEMP1, a Protein Associated with Malattia Leventinese . In: Anderson, R.E., LaVail, M.M., Hollyfield, J.G. (eds) Recent Advances in Retinal Degeneration. Advances in Experimental Medicine and Biology, vol 613. Springer, New York, NY. https://doi.org/10.1007/978-0-387-74904-4_32
Download citation
DOI: https://doi.org/10.1007/978-0-387-74904-4_32
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-74902-0
Online ISBN: 978-0-387-74904-4
eBook Packages: MedicineMedicine (R0)