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?
Steven A Newman; Cecocentral Scotoma: A Neuro-Ophthalmic Revisionist Approach. Invest. Ophthalmol. Vis. Sci. 2015;56(7):2605.
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
Caporali L, Maresca A, Capristo M, et al. Incomplete penetrance in mitochondrial optic neuropathies. Mitochondrion. 2017. doi:10.1016/j.mito.2017.07.004
Behbehani R. Clinical approach to optic neuropathies. Clin Ophthalmol. 2007.
Karaarslan C. Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development. Advances in Therapy. 2019.
To recognize the natural history, exam findings, and OCT features of LHON.
To distinguish the presentation of LHON from dominant optic atrophy.