Retinal Degenerative Diseases, 2006

From the contents Genetic Factors Modifying Clinical Expression of Autosomal Dominant Rp.- Disease-Associated Variants of The Rod-Derived Cone Viability Factor (Rdcvf) In Leber Congenital Amaurosis. Rod-Derived Cone Viability Variants in Lca.- Leber Congenital Amaurosis: Survey of The Genetic Heterogeneity, Refinement of The Clinical Definition and Phenotype-Genotype Correlations as A Strategy For Molecular Diagnosis. Clinical and Molecular Survey in Lca.- 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. A Genetic Model of Age-Related Macular Degeneration.- Bietti Crystalline Corneoretinal Dystrophy Associated with Cyp4v2 Gene Mutations.- Fundus Appearance Of Choroideremia Using Optical Coherence Tomograpy.- A2e, A Fluorophore Of Rpe Lipofuscin, Can Destabilie Membrane.- Amino-Retinoid Compounds in The Human Retinal Pigment Epithelium.- Annexins In Bruch’s Membrane and Drusen.- Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by Impdh1 Mutations.

There is a special focus in the areas of mechanisms and photoreceptor degeneration and cell death Includes supplementary material: sn.pub/extras