Over the last 10 years there has been an explosion of new information about
the genetics of retinal disease. Over 104 genetic loci have been mapped an
d more than 45 disease causing genes have been identified (see RetNet). The
biology of some of these genes is beginning to be understood and animal mo
dels that express some of these mutated human genes have been developed. It
is likely that the increasing knowledge derived from these studies will ha
ve implications for understanding the genetics and pathogenesis of age rela
ted macular degeneration (AMD). Selected aspects of the genetics and biolog
y of photoreceptor degeneration are presented, including the role of ABCR i
n Stargardt disease and its possible relationship to AMD, the role of rom-1
, rds-peripherin, and CRX in various forms of photoreceptor degeneration, a
nd the development and initial characterization of mice carrying targeted d
eletions of the OAT, TIMP-3, and RPE65 genes. The relevance and limitations
of these studies for helping to understand AMD are discussed.