Genetic and molecular studies of macular dystrophies: recent developments

Macular degeneration is a heterogeneous group of disorders characterized by progressive central visual loss and degeneration of the macula and underlying retinal pigment epithelium (RPE) of the eye. Age-related macular degeneration (ARMD), the most common form of the disease, is the leading cause of legal blindness in the elderly population in the United States and in the many developed countries throughout the world. Despite its prevalence, its etiology and pathogenesis are poorly understood, and effective treatment options are limited for most patients. Inherited macular dystrophies share many important features with ARMD but are more readily studied by molecular genetic approaches. Over the past few years, significant progress has been made in the molecular genetics of inherited macular dystrophies. Genes responsible for dominant and recessive Stargardt's macular dystrophy as well as Best's disease have been localized to specific chromosomal regions. The peripherin/RDS gene when defective is associated with butterfly-shaped pattern dystrophy. Molecular studies of genes involved in macular dystrophies may yield insights into the mechanisms of pathogenesis of macular degeneration and provide new rationale for the management and treatment of patients with these diseases.