Macular Dystrophy Associated With the A3243G Mitochondrial DNA Mutation

摘要: Objectives To determine (1) detailed retinal and audiological features of probands harboring the A3243G mitochondrial DNA mutation (m.3243A>G) their asymptomatic maternal relatives, (2) intrafamilial interfamilial phenotypic variability, (3) presence other systemic features. Methods Seven 36 relatives were ascertained. Participants underwent ophthalmologic examination, fundus photography, autofluorescence imaging, evaluation completed a questionnaire. Blood samples taken to test for diabetes, renal function, screen mutation. Results The was associated with both variable expressivity regarding appearance, hearing loss, most common macular appearance in (one-third those positive mutation) mild abnormalities pigment epithelium (more clearly identified using autofluorescence), which may therefore be useful clinical indicator suggesting status. Four 13 mutation-positive found have evidence significant bilateral, cochlear, symmetrical age-adjusted predominantly affecting high frequencies. Conclusions Hearing loss disturbance frequent findings participants, 95% having loss. Diabetes least finding. Patients progressive merit assessment detect consistent Conversely, patients keeping should testing, even absence diabetes or family history.