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OPHTHALMIC IMAGE
Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 323

Diagnostic utility of the optical coherence tomography ganglion cell complex in diagnosing Leber's hereditary optic neuropathy masquerading as functional vision loss


1 Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
2 Division of Neurology, Department of Medicine; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada

Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Arjun Balachandar
Adult Neurology Resident Physician, University of Toronto, Department of Neurology, St Michael's Hospital, 30 Bond St, Toronto, Ontario, M5B 1W8
Canada
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_544_21

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How to cite this article:
Balachandar A, Sundaram AN. Diagnostic utility of the optical coherence tomography ganglion cell complex in diagnosing Leber's hereditary optic neuropathy masquerading as functional vision loss. Indian J Ophthalmol Case Rep 2022;2:323

How to cite this URL:
Balachandar A, Sundaram AN. Diagnostic utility of the optical coherence tomography ganglion cell complex in diagnosing Leber's hereditary optic neuropathy masquerading as functional vision loss. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 19];2:323. Available from: https://www.ijoreports.in/text.asp?2022/2/1/323/334958



A 53-year-old man referred for possible functional visual loss developed painless, subacute, bilateral visual loss and presented with 20/400 vision OU and no objective findings. Fundoscopy, intraocular pressures, neurological exam, MRI brain/orbits and optical coherence tomography (OCT) of retinal nerve fiber layer (RNFL) were normal. He had severe dyschromatopsia and visual field analysis revealed bilateral central scotomas. However, OCT ganglion cell complex (GCC) showed early atrophic changes [Figure 1]. Serial OCTs revealed circumferential GCC atrophy within a month, but took 13 months before RNFL atrophy and optic disc pallor became evident [Figure 1] and [Supplementary Figure 1][Additional file 1], [Supplementary Figure 2][Additional file 2], [Supplementary Figure 3][Additional file 3], [Supplementary Figure 4][Additional file 4], [Supplementary Figure 5][Additional file 5], [Supplementary Figure 6][Additional file 6]. Mitochondrial DNA-sequencing (m. 3395A > G; pTyr30Cys) confirmed Leber's hereditary optic neuropathy (LHON).[1]
Figure 1: Spectral-domain OCT of ganglion cell complex (upper images) showed early atrophic changes 2 weeks after onset of visual loss (a), which then progressively atrophied over 1 year (b-d). Average thickness OD/OS decreased from 72/70 to 44/50. Spectral-domain OCT of retinal nerve fiber layer (lower images) was initially normal (a). Repeat OCT RNFL and optic disc images had minimal changes (b-c) until 13 months later (d). Average thickness OD/OS eventually decreased from 92/94 to 64/63

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Acute LHON may be mistaken for functional visual loss, but OCT-GCC atrophic changes can be seen in early stages.[2]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002;39:162-9.  Back to cited text no. 1
    
2.
Tr H, Gobuty M, Ra M, Erlich-Malona N, Monaco C, Ce M-S. The optical coherence tomographic profile of Leber hereditary optic neuropathy. Neuroophthalmology 2016;40:107-12.  Back to cited text no. 2
    


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