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Case 25

Contributor: Arshia Eshtiaghi (CC3)


Patient Presentation: A 35-year old woman presented to a tertiary ophthalmology clinic with progressive bilateral vision loss over the past 3 months. Her mother and uncle had experienced a similar loss of vision many years ago. Her vision on presentation was 20/200 OD and 20/70 OS. IOP was 13 OD and 12 OS; there was no RAPD. Humphrey visual field (24-2) testing was performed and shown below:


Fundus imaging alongside OCT ganglion cell and RNFL analysis was also performed and is shown below:


Question 1: How would you describe the visual field defects above?

Question 2: Given the pattern of visual field loss, what is the differential diagnosis?

One year later, OCT ganglion cell and RNFL analysis was conducted and is shown below:


Question 3: What is the interpretation of the above OCT images?

Question 4: What is the most likely diagnosis?

Question 5: What is the most common gene implicated in Leber's Hereditary Optic Neuropathy?


  1. Steven A Newman; Cecocentral Scotoma: A Neuro-Ophthalmic Revisionist Approach. Invest. Ophthalmol. Vis. Sci. 2015;56(7):2605.

  2. Enright J, Van Stavern G. Application of optical coherence tomography in hereditary, toxic and metabolic optic neuropathies. Ann Eye Sci. 2020. doi:10.21037/aes.2020.02.04

  3. Caporali L, Maresca A, Capristo M, et al. Incomplete penetrance in mitochondrial optic neuropathies. Mitochondrion. 2017. doi:10.1016/j.mito.2017.07.004

  4. Behbehani R. Clinical approach to optic neuropathies. Clin Ophthalmol. 2007.

  5. Karaarslan C. Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development. Advances in Therapy. 2019.

Learning Objectives:

  1. To recognize the natural history, exam findings, and OCT features of LHON.

  2. To distinguish the presentation of LHON from dominant optic atrophy.

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