Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness

  • Stephen H. Tsang
  • Alicia R. P. AycinenaEmail author
  • Tarun SharmaEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)


  • Patients with maternally inherited diabetes and deafness (MIDD) have insulin-dependent diabetes with relatively low BMI; usually the onset of the diabetes is during the third or fourth decade of life and it is associated with progressive neurosensory deafness.

  • The fundus shows circumferentially oriented but discontinuous patches of RPE and choriocapillaris (CC) atrophy around the macula, within the arcades (Figs. 31.1 and 31.2). Sometimes even hyperpigmentation can be seen, also around the optic nerve, or pattern-like dystrophy may occur.

  • Vision is usually good, about 20/40 or better.

  • Fundus autofluorescence (FAF) shows decreased AF in the areas of RPE atrophy, surrounded by a zone of speckled AF.

  • No generalized retinal dysfunction is seen on full-field electroretinography (ERG), but pattern ERG or multifocal ERG shows abnormal function.

  • Asymptomatic maternal relatives harboring the mutation may show pigmentary changes, hearing loss, and in some, diabetes.

  • Another disorder associated with the same A3243G mitochondrial DNA (mtDNA) mutation as MIDD is Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episodes (MELAS). The stroke-like episode (such as hemiplegia) occurs at about 5–15 years of age, and severe encephalopathy may cause death at a young age. Patients may also experience headache, vomiting, visual field defects, or cortical blindness.


Mitochondrial disorder Mitochondrial inherited diabetes and deafness MIDD 

Suggested Reading

  1. Kameoka K, Isotani H, Tanaka K, Kitaoka H, Ohsawa N. Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys). Diabetes Care. 1998;21:2034–5.CrossRefGoogle Scholar
  2. van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992;1:368–71.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA
  3. 3.Department of Pediatrics, Division of GeneticsUniversity of California San FranciscoSan FranciscoUSA

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