MELAS A3243G mitochondrial DNA mutation and age related maculopathy

Abstract

To determine whether mitochondrial DNA mutations play a role in the development of age related maculopathy (ARM). Case report. Hair follicles were collected from 3557 persons aged 49 years or older during the Blue Mountains Eye Study. General health measures were assessed and a detailed eye examination was performed, including stereo retinal photography of the macula, and other retinal fields. ARM was graded according to international classification. Polymerase chain reaction and restriction fragment length polymorphism analysis was performed to detect the MELAS A3243G mutation in 570 subjects identified to have signs of Early or Late ARM, as well as in age- and gender-matched controls. Only one participant with Early ARM, mild hearing loss, hypertension, ischemic heart disease, and asthma was found to have the MELAS A3243G mutation. The MELAS A3243G mutation appears to be a very rare cause of typical ARM in the general population.