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Sirtuin 3 mutation- induced mitochondrial dysfunction and optic neuropathy: a case report.

Bo Young Chun1,2, Jung Moon Choi3, Su-Kyeong Hwang4,5

  • 1Department of Ophthalmology, School of Medicine, Kyungpook National University, Daegu, Korea. byjun424@hotmail.com.

BMC Ophthalmology
|March 25, 2023
PubMed
Summary

A rare genetic mutation in the SIRT3 gene caused mitochondrial optic neuropathy in a teenage boy, leading to progressive vision loss. This case highlights the link between mitochondrial dysfunction and optic nerve damage.

Area of Science:

  • Ophthalmology
  • Genetics
  • Mitochondrial Biology

Background:

  • Mitochondrial optic neuropathy presents as painless, progressive central vision loss and dyschromatopsia due to impaired mitochondrial function.
Keywords:
Case reportMitochondrial dysfunctionMitochondrial optic neuropathySIRT3 gene mutation

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  • This condition is rare and often linked to genetic factors affecting mitochondrial health.