During the last few years, an explosion of infonnation has come from human genetics and molecular and cell biological studies as to the genetic basis for a number of fonns of inherited retinal degenerations. These disorders have plagued mankind for millennia because they take from otherwise healthy individuals the precious gift of sight. The fundamental advances in recent years have identified a number of genes involved in the groups of diseases which hopefully will lead to discoveries that may, in the not too distant future, allow the prevention and possible cure of some of these blinding eye…mehr
During the last few years, an explosion of infonnation has come from human genetics and molecular and cell biological studies as to the genetic basis for a number of fonns of inherited retinal degenerations. These disorders have plagued mankind for millennia because they take from otherwise healthy individuals the precious gift of sight. The fundamental advances in recent years have identified a number of genes involved in the groups of diseases which hopefully will lead to discoveries that may, in the not too distant future, allow the prevention and possible cure of some of these blinding eye disorders. To foster a forum for discussions of studies on degenerative retinal disorders, we convened a symposium on retinal degenerations in 1984, at the VIth International Congress of Eye Research Meeting, held in Alicante, Spain. Because of the success of this meeting and the subsequent publication, we have since organized a series of biennial satellite meetings on retinal degenerationsfor the ISER congresses held in Nagoya, Japan (1986), San Francisco (1988) and Helsinki (1990). Each of these satellite symposium on retinal degenerations was accompanied by a published proceedings volume. This volume is the fifth in this series and contains the proceedings of the Sardinia Symposium on Retinal Degeneration held September 15-20, 1992, as a satellite meeting of the 10th International Congress of Eye Research.
I. The Macula, Aging and Macular Degeneration.- Lipofuscin in Aged and AMD Eyes.- Retinoid Reaction Products in Age Related Retinal Degeneration.- How Many Cones Are Required to "See"?: Lessons from Stargardt's Macular Dystrophy and from Modeling with Degenerate Photoreceptor Arrays.- The Genetics of Age-Related Maculopathy.- Linkage Analysis in Malattia Leventinese, an Autosomal Dominant Form of Macular Degeneration.- Mutations in the Human Retinal Degeneration Slow (RDS) Gene Can Cause Either Retinitis Pigmentosa or Macular Dystrophy.- II. Retinitis Pigmentosa and Allied Retinal Degenerations: Molecular, Cellular and Clinical Studies.- Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa.- Genetic and Epidemiological Study of Autosomal Dominant (ADRP) and Autosomal Recessive (ARRP) Retinitis Pigmentosa in Sardinia.- Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the Gly-188-Arg Mutation of the Rhodopsin Gene.- Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa Due to a 3-Base Pair Deletion at Codon 255/256 of the Human Rhodopsin Gene.- Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa.- Heterogeneity of Usher Syndrome Type I.- The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies.- Clinical and Genetic Heterogeneity of Leber's Congenital Amaurosis.- Studies toward the Isolation of the RP3 Gene.- Comments on Gene Symbols and Terminology.- Identification of Candidate Genes for Eye Diseases: Studies on a Neural Retina-Specific Gene Encoding a Putative DNA Binding Protein of Leucine Zipper Family.- Nonradioactive Single Strand Conformation Polymorphism (PCR-SSCP): A Simplified Method Applied to a Molecular GeneticScreening of Retinitis Pigmentosa.- Retinopathia Pigmentosa Plus- The Value of Ultrastructural Examination of the Human Retina.- III. Studies of Retinal Degeneration Using Transgenic Mice and Other Animal Models.- Simulation of Autosomal Dominant Retinitis Pigmentosa in Transgenic Mice.- Creating Transgenic Mouse Models of Photoreceptor Degeneration Caused by Mutations in the Rhodopsin Gene.- A Molecular Characterization of the Retinal Degeneration Slow (rds) Mouse Mutation.- Transgenic Mouse Studies of Retinal Degeneration: Expression of the ß-Subunit of cGMP Phosphodiesterase and Transducin ?-Subunits.- Retinal Development under the Influence of SV40 T-Antigen in Transgenic Mice.- Nonsense Mutations in the ? Subunit Gene of the Rod cGMP Phosphodiesterase that Are Associated with Inherited Retinal Degenerative Disease.- Systemic Alterations in Docosahexaenoic Acid Metabolism in Inherited Retinal Degenerations.- Variable Expressivity of rd-3 Retinal Degeneration Dependent on Background Strain.- Retinal Degenerations in the Briard Dog.- IV. Agents Which Cause or Prevent Retinal Degeneration.- Growth Factors as Possible Therapeutic Agents for Retinal Degeneration.- Laser Effects on Photoreceptor Degeneration in the RCS Rat.- Role of Heat Shock Protein 70 (HSP70) in Photoreceptor Cell Survival in the Aged Rat.- A Morphometric and Immunopathologic Study of Retinal Photic Injury in Primate.- Cutaneous Melanoma-Associated Retinopathy.- The Effect of Naphthalene on the Retina of Rabbit.- Biological Effects of Retinoids and Retinoid Metabolism in Cultures of Chick Embryo Retina Neurons and Photoreceptors.
I. The Macula, Aging and Macular Degeneration.- Lipofuscin in Aged and AMD Eyes.- Retinoid Reaction Products in Age Related Retinal Degeneration.- How Many Cones Are Required to "See"?: Lessons from Stargardt's Macular Dystrophy and from Modeling with Degenerate Photoreceptor Arrays.- The Genetics of Age-Related Maculopathy.- Linkage Analysis in Malattia Leventinese, an Autosomal Dominant Form of Macular Degeneration.- Mutations in the Human Retinal Degeneration Slow (RDS) Gene Can Cause Either Retinitis Pigmentosa or Macular Dystrophy.- II. Retinitis Pigmentosa and Allied Retinal Degenerations: Molecular, Cellular and Clinical Studies.- Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa.- Genetic and Epidemiological Study of Autosomal Dominant (ADRP) and Autosomal Recessive (ARRP) Retinitis Pigmentosa in Sardinia.- Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the Gly-188-Arg Mutation of the Rhodopsin Gene.- Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa Due to a 3-Base Pair Deletion at Codon 255/256 of the Human Rhodopsin Gene.- Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa.- Heterogeneity of Usher Syndrome Type I.- The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies.- Clinical and Genetic Heterogeneity of Leber's Congenital Amaurosis.- Studies toward the Isolation of the RP3 Gene.- Comments on Gene Symbols and Terminology.- Identification of Candidate Genes for Eye Diseases: Studies on a Neural Retina-Specific Gene Encoding a Putative DNA Binding Protein of Leucine Zipper Family.- Nonradioactive Single Strand Conformation Polymorphism (PCR-SSCP): A Simplified Method Applied to a Molecular GeneticScreening of Retinitis Pigmentosa.- Retinopathia Pigmentosa Plus- The Value of Ultrastructural Examination of the Human Retina.- III. Studies of Retinal Degeneration Using Transgenic Mice and Other Animal Models.- Simulation of Autosomal Dominant Retinitis Pigmentosa in Transgenic Mice.- Creating Transgenic Mouse Models of Photoreceptor Degeneration Caused by Mutations in the Rhodopsin Gene.- A Molecular Characterization of the Retinal Degeneration Slow (rds) Mouse Mutation.- Transgenic Mouse Studies of Retinal Degeneration: Expression of the ß-Subunit of cGMP Phosphodiesterase and Transducin ?-Subunits.- Retinal Development under the Influence of SV40 T-Antigen in Transgenic Mice.- Nonsense Mutations in the ? Subunit Gene of the Rod cGMP Phosphodiesterase that Are Associated with Inherited Retinal Degenerative Disease.- Systemic Alterations in Docosahexaenoic Acid Metabolism in Inherited Retinal Degenerations.- Variable Expressivity of rd-3 Retinal Degeneration Dependent on Background Strain.- Retinal Degenerations in the Briard Dog.- IV. Agents Which Cause or Prevent Retinal Degeneration.- Growth Factors as Possible Therapeutic Agents for Retinal Degeneration.- Laser Effects on Photoreceptor Degeneration in the RCS Rat.- Role of Heat Shock Protein 70 (HSP70) in Photoreceptor Cell Survival in the Aged Rat.- A Morphometric and Immunopathologic Study of Retinal Photic Injury in Primate.- Cutaneous Melanoma-Associated Retinopathy.- The Effect of Naphthalene on the Retina of Rabbit.- Biological Effects of Retinoids and Retinoid Metabolism in Cultures of Chick Embryo Retina Neurons and Photoreceptors.
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