Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient

摘要

A 68-year-old man presented to our service for routine retinal evaluation. His medical history included asthma and hypothy-roidism, which were well controlled with medication. His ocular history included mild cataracts, floaters and non-neovascular age-related macular degeneration that was diagnosed by a comprehensive ophthalmologist several years earlier. The patient expressed no systemic complaints. The patient stated that his family members were all in good health. On examination, his best-corrected visual acuity was 20/25 bilaterally. Amsler grid testing revealed central metamorphopsia in the right eye. Anterior segment examination showed early lens opacities in both eyes. Funduscopic examination revealed bilateral areas of geographic retinal pigment epithelium loss within the macula. Small subretinal vitelliform lesions were present along the superotemporal arcades (figure 1).