Abstract
Malattia leventinese, an autosomal dominant form of macular degeneration, originates from the Leventine valley in the North of the Ticino Canton of Switzerland and was first published by Vogt and coworkers in 1925 (16). Normally between age 20 and age 30, a few round, brown-yellow, later whitish structures appear in the deeper retinal layers of the posterior pole in both eyes. Later, these spots show confluence and the retina in front of them becomes atrophic. The histological examination discloses round accumulations of eosinophilic hyaline bodies in the pigment epithelium. These structures are connected with the inner layer of Bruch’s membrane and are called “drusen”. Drusen can be divided into degenerative and hereditary drusen. Hereditary (dominant) drusen occur in malattia leventinese, Doyne’s honeycomb dystrophy, Hutchinson-Tay chorioiditis and Holthouse-Batten chorioretinitis. Therefore, Deutman and Jansen (3) proposed the designation “dominant drusen” for all these diseases. The molecular abnormality which underlies the formation of dominant drusen is not known. Since elucidation of the molecular basis of malattia leventinese may also shed light on the pathogenesis of other forms of macular degeneration (e.g. age-related macular degeneration, which - in developed countries - is the most common cause of blindness in older individuals), we have recently initiated genetic linkage studies in a large affected family from the Ticino (Figure 1).
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References
S.H. Blanton, J.R. Heckenlively, A.W. Cottingham, et al., Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8, Genomics 11;857–869 (1991)
D.L. Browne, J. Gault, M.B. Thompson, et al., Dinucleotide repeat polymorphism at the D11S527 locus, NAR 19;4790 (1991)
A.F. Deutman and L.M.A.A. Jansen, Dominantly inherited drusen of Bruch’s membrane, Brit.J.Ophthal. 54;373–382 (1970)
T.P. Dryja, T.L. McGee, E. Reichel, et al., A point mutation of the rhodopsin gene in one form of retinitis pigmentosa, Nature 343;364–366 (1990)
T.P. Dryja, T.L. McGee, L.B. Hahn, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa, New Engl. J. Med. 323;1302–1307 (1991)
G.J. Farrar, P. McWilliam, D.G. Bradley, et al., Autosomal dominant retinitis pigmentosa: Linkage to rhodopsin and evidence for genetic heterogeneity, Genomics 8;35–40 (1990)
G.J. Farrar, S.A. Jordan, P. Kenna, et al., Autosomal dominant retinitis pigmentosa: Localisation of a disease gene (RP6) to the short arm of chromosome 6, Genomics 11;870–874 (1991a)
G.J. Farrar, P. Kenna, R. Redmond, et al., Autosomal dominant retinitis pigmentosa: A mutation in codon 178 of the rhodopsin gene in 2 ADRP families of Celtic origin, Genomics 11;1170–1171 (1991b)
G.J. Farrar, P. Kenna, S.A. Jordan, et al., A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa, Nature 354;478–480 (1991c)
R.E. Ferrel, H.M. Hittner and J.H. Antoszyk, Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus, Am. J. Hum. Genet. 35;78–84 (1983)
C.F. Inglehearn, R. Bashir, D.H. Leister, et al., A 3bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa, Am. J. Hum. Genet. 48;26–30 (1991)
K. Kajiwara, L.B. Hahn, S. Mukai, et al., Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa, Nature 354;480–483 (1991)
P. McWilliam, G.J. Farrar, P. Kenna, et al., Autosomal dominant retinitis pigmentosa (ADRP): Localisation of an ADRP gene to the long arm of chromosome 3, Genomics 5;619–622 (1989)
E.M. Stone, B.F. Nichols, L.M. Streb, et al., Genetic linkage of vitelliform macular degeneration (Best’s disease) to chromosome 11g13, Nature genetics 1;246–250 (1992)
A. Swaroop, J. Xu, N. Agarwal, et al., A novel human neural retina specific gene encodes a basic/leucine zipper motif homologous to the avian v-maf oncogene product, Am.J.Hum.Genet. supp1.49:433 (1991)
A. Vogt, Die Ophthalmoskopie im rotfreien Licht, in: Graefe-Saemisch Handbuch d. ges. Augenheilkunde. 3.ed. J.Springer, Berlin, vol 3;1–118 (1925)
J.L. Weber and P.E. May, Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction, Am.J.Hum. Genet. 44;388–396 (1989)
J.L. Weber and P.E. May, Dinucleotide repeat polymorphism at the PENK locus. NAR 18;2200 (1990)
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Stuhrmann, M., Spangenberg, A., Schinzel, A., Schmidtke, J. (1993). Linkage Analysis in Malattia Leventinese, an Autosomal Dominant form of Macular Degeneration. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degeneration. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2974-3_5
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DOI: https://doi.org/10.1007/978-1-4615-2974-3_5
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