This book represents the proceedings of the Sixth World Congress of the International Retinitis Pigmentosa Association (IRPA), Dublin, Ireland, July 20-22, 1990. It is intended for all research workers and ophthalmologists interested in the etiologies and diagnosis of inherited degenerative retinopathies. The book contains 22 original papers, many of which are genetically oriented. The genetic focus is due to the fact that highly significant progress in genetic research has been made over the last few years. Topics addressed in the book include proteins of the visual transduction cycle and their effect in the etiologies of RP, identification of more mutations, and new technologies for genetic analysis. The new technologies, in particular, will interest specialists in molecular genetics and researchers seeking information about more clinical applications and the implications of research of inherited retinopathies.
Study of Families with Retinitis Pigmentosa in the Geographic Area of Valencia (Spain) (L. Alonso, P. Grimaldos, J. Boix, R. Bosch, P. Ivorra, C. Vilela, F. Prieto, and M. Beneyto). Choroideremia and Ovarian Dysgenesis Associated with an X; 7 De Novo Balanced Translocation (M. Abitbol, J. Kaplan, S. Gilgenkrantz, A. Awad-Michel, H.H. Ropers, F. Cremers, I.H. Pawlowiski, J. Frezal, and J.L. Dufier). Molecular Genetic Studies in Autosomal Dominant Retinitis Pigmentosa (R. Bashir, C.F. Inglehearn, D. Lester, B. Lauffart, J. Keen, S.S. Papiha, M. Jay, A.C. Bird, and S.S. Bhattacharya). Linkage Mapping and Molecular Studies of Autosomal Forms of Retinitis Pigmentosa (Stephen P. Daiger, Susan H. Blanton, Anne Cottingham, Jana Laidlaw, Joseph A. Rodriguez, and John R. Heckenlively). Indian Pedigrees with Recessive Retinitis Pigmentosa: Potential for Homozygosity Mapping (A. Chand, G. Kumaramanickavel, M. Abraham, D.K. Gahlot, B.N. Apte, and M.J. Denton). Autosomal Dominant Retinitis Pigmentosa (RP4): Analysis of Mutations within the Rhodopsin Gene (G.J. Farrar, P. Kenna, R. Redmond, P. McWilliam, D.G. Bradley, M.M. Humphries, E.M. Sharp, G. Fishman, C. Marchese, L. Fusi, J.L. Dufier, M. Abitbol, and P. Humphries). Linkage Analysis of Autosomal Dominant Congenital Stationary Night Blindness in a Large Chinese Pedigree (Yijian Fei, Chengren Luo, Anren Li, Jiumu Zhou, and Yongzhi Huang). A Gene for Autosomal Dominant Retinitis Pigmentosa Is Closely Linked to D3S20 on 3q (Ch. Samanns, A. Watty, A. Chand, J. Pongratz, V. Colantuoni, M.J. Denton, and A. Gal). Refsum's Syndrome - Heredopathia Atactica Polyneuritiformis - Concepts for Therapy (F.B. Gibberd). Treating Retinal Degenerations by Cell and/or Gene Transplantation: When and How? (P. Gouras, J. Du, R. Lopez, R. Kwun, P. Sforza, H. Kjeldbye, A. Avakian, and D. Kauffmann). Analysis of Genetic Heterogeneity and Clinical Variation of Typical Retinitis Pigmentosa in Japan (Mutsuko Hayakawa, Keiko Fujiki, Kazuyuki Kabasawa, Utako Tanabe, Atsuo Nakamura, Yoshihiro Hotta, Kazuo Kato, Atsushi Kanai, and Akira Nakajima). Linkage Analysis in Autosomal Dominant Retinitis Pigmentosa (J. Kaplan, G. Guasconi, J.L. Dufier, A. Awad-Michel, A. David, A. Munnich, and J. Frezal). Linkage Analysis in Usher Syndrome Type I, (J. Kaplan, G. Guasconi, D. Bonneau, J. Melki, M.L. Briard, J.L. Dufier, A. Munnich, and J. Frezal). Characterisation of Irish Autosomal Dominant Retinitis Pigmentosa Kindreds Showing Genetic Heterogeneity (Paul F. Kenna). Progress in the Localization of the Usher Syndrome Genes (William J. Kimberling, Michael D. Weston, Sandra Pieke Dahl, Yin Y. Shugart, Judith B. Kenyon, Larry Overbeck, Claes Moller, Alessandro Martini, Richard Smith, and Massimo Milani). An Approach to Cloning the Proximal Locus for X-Linked Retinitis Pigmentosa (Susan Riley, Graeme Black, Zhengyi Chen, Eli Hatchwell, Birgit Lorenz, Thomas Meitinger, John Powell, Baerbel Wittwer, and Ian Craig). XLRP (RP3): Further Linkage Data, Physical Mapping of Two DNA Markers Closely Linked to RP3 by Pulsed Field Gel Electrophoresis and Cloning Strategies (Maria A. Musarella, Cathy McDowell, C. Lynn Anson-Cartwright, Arthur H.M. Burghes, and Johanna M. Rommens). Usher Syndrome in Louisiana (Mary Z. Pelias, Richard J.H. Smith, Stephen P. Daiger, and J. Fielding Hejtmancik). Cataract Complicated by Retinitis Pigmentosa (M.R. Pannarale, E. Rispoli, E.M. Vingolo, L. Pannarale, R. Forte, and A. Iannaccone). R.P. Italia Association Reference Centre of Milan: First Results (A. Porta, G. Staurenghi, C. Pierrottet, F. Piattoni, V. Gualandri, L. Troiano,and M. Del Bo). Linkage Analysis of Northern Ireland Autosomal Dominant Retinitis Pigmentosa Families (R. Redmond, B. Page, and A.E. Hughes). Tapeto Retinal Dystrophy and Mental Retardation (Mette Warburg, Ole Sjö, and Lisbeth Tranebjaerg). Perspectives on Human Genome Mapping (Robert Williamson). Index.