Retinal Degeneration: Clinical and Laboratory Applications

Front Matter....Pages i-xiv
Front Matter....Pages 1-1
Lipofuscin in Aged and AMD Eyes....Pages 3-14
Retinoid Reaction Products in Age Related Retinal Degeneration....Pages 15-24
How Many Cones are Required to “See?”: Lessons from Stargardt’s Macular Dystrophy and from Modeling with Degenerate Photoreceptor Arrays....Pages 25-34
The Genetics of Age-Related Maculopathy....Pages 35-47
Linkage Analysis in Malattia Leventinese, an Autosomal Dominant form of Macular Degeneration....Pages 49-52
Mutations in the Human Retinal Degeneration Slow (RDS) Gene Can Cause Either Retinitis Pigmentosa or Macular Dystrophy....Pages 53-59
Front Matter....Pages 61-61
Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa....Pages 63-77
Genetic and Epidemiological Study of Autosomal Dominant (ADRP) and Autosomal Recessive (ARRP) Retinitis Pigmentosa in Sardinia....Pages 79-90
Clinical Features of Autosomal Dominant Retinitis Pigmentosa Associated with the GLY-188-ARG Mutation of the Rhodopsin Gene....Pages 91-101
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....Pages 103-114
Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa....Pages 115-125
Heterogeneity of Usher Syndrome Type I....Pages 127-133
The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies....Pages 135-142
Clinical and Genetic Heterogeneity of Leber’s Congenital Amaurosis....Pages 143-152
Studies Toward the Isolation of the RP3 Gene....Pages 153-160
Comments on Gene Symbols and Terminology....Pages 161-170
Identification of Candidate Genes for Eye Diseases: Studies on a Neural Retina-Specific Gene Encoding a Putative Dna Binding Protein of Leucine Zipper Family....Pages 171-180
Nonradioactive Single Strand Conformation Polymorphism (PCR-SSCP): A Simplified Method Applied to a Molecular Genetic Screening of Retinitis Pigmentosa....Pages 181-188
Retinopathia Pigmentosa Plus - the Value of Ultra-Structural Examination of the Human Retina....Pages 189-198
Front Matter....Pages 199-199
Simulation of Autosomal Dominant Retinitis Pigmentosa in Transgenic Mice....Pages 201-210
Front Matter....Pages 199-199
Creating Transgenic Mouse Models of Photoreceptor Degeneration Caused by Mutations in the Rhodopsin Gene....Pages 211-217
A Molecular Characterization of the Retinal Degeneration Slow ( rds ) Mouse Mutation....Pages 219-230
Transgenic Mouse Studies of Retinal Degeneration: Expression of The β-Subunit of cGMP Phosphodiesterase and Transducin α-Subunits....Pages 231-242
Retinal Development Under the Influence of SV40 T-Antigen in Transgenic Mice....Pages 243-250
Nonsense Mutations in the ß Subunit Gene of the Rod cGMP Phosphodiesterase That are Associated with Inherited Retinal Degenerative Disease....Pages 251-258
Systemic Alterations in Docosahexaenoic Acid Metabolism in Inherited Retinal Degenerations....Pages 259-271
Variable Expressivity of rd-3 Retinal Degeneration Dependent on Background Strain....Pages 273-280
Retinal Degenerations in the Briard Dog....Pages 281-290
Front Matter....Pages 291-291
Growth Factors as Possible Therapeutic Agents for Retinal Degenerations....Pages 293-298
Laser Effects on Photoreceptor Degeneration in the RCS Rat....Pages 299-308
Role of Heat Shock Protein 70 (HSP70) in Photoreceptor Cell Survival in the Aged Rat....Pages 309-320
A Morphometric and Immunopathologic Study of Retinal Photic Injury in Primate....Pages 321-333
Cutaneous Melanoma-Associated Retinopathy....Pages 335-342
The Effect of Naphthalene on the Retina of Rabbit....Pages 343-353
Biological Effects of Retinoids and Retinoid Metabolism in Cultures of Chick Embryo Retina Neurons and Photoreceptors....Pages 355-360
Back Matter....Pages 361-365