Macular degeneration is a heterogeneous group of disorders characteriz
ed by progressive central visual loss and degeneration of the macula a
nd 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 und
erstood, and effective treatment options are limited for most patients
. Inherited macular dystrophies share many important features with ARM
D but are more readily studied by molecular genetic approaches. Over t
he past few years, significant progress has been made in the molecular
genetics of inherited macular dystrophies. Genes responsible for domi
nant and recessive Stargardt's macular dystrophy as well as Best's dis
ease have been localized to specific chromosomal regions. The peripher
in/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 deg
eneration and provide new rationale for the management and treatment o
f patients with these diseases.