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Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient
  1. Danielle Savitsky Strauss1,
  2. K Bailey Freund1,2
  1. 1Department of Ophthalmology, New York University School of Medicine, New York, USA
  2. 2Vitreous Retina Macula Consultants of New York, New York, USA
  1. Correspondence to K Bailey Freund, Vitreous Retina Macula Consultants of New York, 460 Park Ave, Fifth Floor, NY 10022, USA; kbfnyf{at}

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Case description

A 68-year-old man presented to our service for routine retinal evaluation. His medical history included asthma and hypothyroidism, which were well controlled with medication. His ocular history included mild cataracts, floaters and non-neovascular age-related macular degeneration that was diagnosed by a comprehensive ophthalmologist several years earlier. The patient expressed no systemic complaints. The patient stated that his family members were all in good health. On examination, his best-corrected visual acuity was 20/25 bilaterally. Amsler grid testing revealed central metamorphopsia in the right eye. Anterior segment examination showed early lens opacities in both eyes. Funduscopic examination revealed bilateral areas of geographic retinal pigment epithelium loss within the macula. Small subretinal vitelliform lesions were present along the superotemporal arcades (figure 1). There were no peripheral retinal abnormalities detected in either eye. Fundus autofluorescence (FAF) imaging showed geographic areas of macular and peripapillary hypo-autofluorescence with speckled areas of hyper-autofluorescence corresponding to the subretinal vitelliform …

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  • Funding This report was supported by the Macula Foundation, Inc.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer reviewed Not commissioned; internally peer reviewed.