A Rare Case of Leber’s Hereditary Optic Neuropathy

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Published

2025-04-30

DOI:

https://doi.org/10.56692/upjo.2025130107

Keywords:

Leber hereditary optic neuropathy, Mitochondrial mutation, Central vision

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Issue

Vol. 13 No. 01 (2025): UP Journal of Ophthalmology

Section

Case Report

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

© Author, Open Access. This article is licensed under a CC Attribution 4.0 License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/byncsa/4.0/.

Authors

  • Shefali Pandey Department of Ophthalmology, GSVM Medical College, Kanpur, Uttar Pradesh, India.
  • Shalini Mohan Department of Ophthalmology, GSVM Medical College, Kanpur, Uttar Pradesh, India.
  • Namrata Patel Department of Ophthalmology, GSVM Medical College, Kanpur, Uttar Pradesh, India.

Abstract

Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disorder characterized by acute or subacute loss of central vision, typically affecting young adult males. This case report presents a 25-year-old male with a history of gradual painless loss of vision for 4 months. The patient exhibited a significant family history of similar complaints with affected females in previous generations It is confirmed by a genetic sequencing CT 7044: Common mitochondrial mutation ND1: mt G3460A. Despite having mitochondrial point mutation, the patient had affected females in other generations. This case underscores the importance of heteroplasmy and the need for genetic counseling among females.

How to Cite

1.
Pandey S, Mohan S, Patel N. A Rare Case of Leber’s Hereditary Optic Neuropathy. UPJO [Internet]. 2025 Apr. 30 [cited 2025 Oct. 23];13(01):29-31. Available from: https://upjo.org/index.php/upjo/article/view/580

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