Retinal Degenerative Diseases [Hardcover]

Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field. THe topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration.

Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field. THe topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration.

Molecular Genetics and Candidate Genes.- Genetic Factors Modifying Clinical Expression of Autosomal Dominant RP.- Disease-Associated Variants of the Rod-derived Cone Viability Factor (RdCVF) in Leber Congenital Amaurosis.- Leber Congenital Amaurosis: Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition and Phenotype-Genotype Correlations as a Strategy for Molecular Diagnosis.- A First Locus for Isolated Autosomal Recessive Optic Atrophy (ROA1) Maps to Chromosome 8q21-q22.- RCC1-Like Domain and ORF15: Essentials in RPGR Gene.- Choroidal Neovascularization in Patients with Adult-Onset Foveomacular Dystrophy Caused by Mutations in the RDS/Peripherin Gene.- Biochemical Characterisation of the C1QTNF5 Gene Associated with Late-Onset Retinal Degeneration.- Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations.- Diagnostic, Clinical, Cytopathological and Physiologic Aspects of Retinal Degeneration.- Fundus Appearance of Choroideremia Using Optical Coherence Tomograpy.- A2E, A Fluorophore of RPE Lipofuscin, Can Destabilize Membrane.- Amino-Retinoid Compounds in the Human Retinal Pigment Epithelium.- Annexins in Bruchs Memberanl³°