This 55YO male presented with 20/50 vision OD and 20/100 vision OS. Optos color imaging shows bilateral areas of relatively confluent patchy macular atrophy.
The RPE changes are much more pronounced on fundus autofluorescence. OCT scanning shows outer retinal and RPE loss within the areas of clinical atrophy.
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.
In our experience, fundus autofluorescence (FAF) is the best way to visualize these changes. The FAF appearance somewhat resembles that seen with Elmiron toxicity. Peripapillary hypoautofluorescence, more densely packed macular autofluorescent changes, and earlier central macular involvement suggest PPS toxicity over other causes (see Barnes et al Ophthalmology Retina 2020;4:1196-1201).
Note that our case spares the central macula and peripapillary retina, which is more consistent with MIDD.
MIDD patients need to be screened for other potential co-existing medical conditions, including cardiac arrhythmias, myopathy, and renal disease.
