This 62yo female with a history of type 2 diabetes and mild hearing loss initially presented in 2012 with asymptomatic 20/30 vision OU and bilateral areas of focal macular atrophy and subretinal yellow fleck-like lesions.
The retinal pigment epithelial changes were much more pronounced on fluorescein angiography. OCT scanning shows classic wedge defects along the border of the macular atrophy as well as an area of outer retinal tubulation in the left eye.
Learning Points:
Maternally inherited diabetes and deafness (MIDD) accounts for up to 3% of all cases of diabetes and results from a mutation in mitochondrial DNA at position A3243G. MIDD often masquerades as a pattern macular dystrophy.
Fundus autofluorescence (FAF), in our experience, is the best way to visualize these changes, but it was not available at the office when we initially saw her. MIDD patients need to be screened for other potential co-existing medical conditions, including cardiac arrhythmias, myopathy, and renal disease.
