Developmental macular dystrophies- unraveling the disease mechanisms
Speaker:Anthony T Moore Department of Ophthalmology University of California School of Medicine San Francisco/ Host: Arvind Chandna
Room 204 - Main Conference Room
The developmental macular dystrophies are a heterogeneous group of disorders in which there is a disordered development of the macular region, which is evident at birth or early infancy. Most of these disorders are dominantly inherited and although the genes are fully penetrant there is a wide range of phenotypic expression. The first developmental macular dystrophy to be fully characterized was North Carolina Macular dystrophy (NCMD), which was mapped to 6q by Kent Small in 1992. A second developmental disorder autosomal dominant bifocal chorioretinal atrophy also maps to 6q. More recently a second locus for NCMD on 5p has been identified. The identification of the causative genes has until the recent advent of next-generation sequencing has been elusive. This talk will discuss the range of developmental macular phenotypes and will discuss approaches to investigating the underlying genetic mechanism. The identification of the genetic basis of these disorders will help to understand human foveal and macular development- by identifying key biological pathways involved. Currently little is known about macular development in man in part because animal models in common use, do not have a macula.