Fundus Autofluorescence in Maternally Inherited Diabetes and Deafness: The Gold Standard for Monitoring Maculopathy?

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disease associated with dysfunction of the retinal pigment epithelium and photoreceptor outer segments in a peri-foveal arrangement. If chorioretinal atrophy develops, patients risk losing vision. We retrospectively analysed three patients with genetically proven MIDD, assessing atrophy size and progression using overlay in photoshop. Patients showed increase in chorioretinal atrophy of 205%, 46% and 34%, respectively. We also found location-specific progression, where hyper-autofluorescent deposits evolved into areas of atrophy. These results support the use of fundus autofluorescence as a valuable tool in monitoring disease progression and providing prognostic information for clinicians and patients.