Maternally Inherited Diabetes and Deafness – July, 2023


A 58-year-old female presented as referral from optometry due to concern for proliferative diabetic retinopathy. Patient reported progressively worsening vision in both eyes over the last 2 months. Patient also reported hearing difficulty for 1 year which she has been seeing an ENT specialist.


Visual acuity is 20/40 in both eyes. Her pupils are normally reactive without RAPD. Her intraocular pressure was 18 and 16. Anterior segment exam was normal in both eyes outside trace nuclear sclerosis cataracts. Dilated exam showed areas of RPE mottling and atrophy around the macula in both eyes.

areas of RPE mottling and atrophy

.areas of RPE mottling and atrophy

Figure 1: Fundus photography showed areas of RPE mottling and atrophy around the macula in both eyes. There were also areas of lipid exudates, scattered microaneurysms, and cotton wool spots.

RPE atrophyRPE atrophy

Figure 2: Optical coherence tomography (OCT) retina showed RPE atrophy. No significant intraretinal or subretinal fluid.

Figure 3: Fluorescein angiogram (FA) showed normal transit times. There were window defects in the areas RPE atrophy around the fovea. There were focal areas of hyperautofluorescence corresponding to microaneurysms.

Differential Diagnosis:

  • Macular degeneration with geographic atrophy
  • Enlarging laser scars
  • Maternally inherited diabetes and deafness
  • Pattern dystrophy


Maternally Inherited Diabetes and Deafness

Maternally inherited diabetes and deafness (MIDD) is inherited through maternal mitochondrial DNA. Our patient underwent genetic testing which confirmed the diagnosis. MIDD is responsible for 1% of all diabetes and is likely underdiagnosed. Onset of diabetes is in the mid 30s but can range from adolescents to middle age. The deafness associated with MIDD develops in about 75% of patients and typically presents in young adulthood before the diabetes is diagnosed. Patients with MIDD are typically short in stature with normal BMI. Other health complications such as cardiac disease, myopathy with muscle weakness, kidney disease, and strokes at a young age are more common in patients with MIDD. It is recommended that children of female patients with MIDD are either genetically tested or monitored closely.

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