J Korean Ophthalmol Soc.  2011 Jan;52(1):122-127. 10.3341/jkos.2011.52.1.122.

Leber's Hereditary Optic Neuropathy in a Patient Diagnosed With Normal Tension Glaucoma: A Case Report

• Lee S
• Choi J
• Jang JW
• Kim DM
• Kim SJ

• KMID: 2214149
• DOI: http://doi.org/10.3341/jkos.2011.52.1.122

Abstract

PURPOSE
Leber's hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA. The authors report a case of a middle-aged man with genetically confirmed LHON, combined with bilateral normal tension glaucoma (NTG).
CASE SUMMARY
A 48-year-old man presented with complaints of decreased visual acuity in his left eye. His corrected visual acuity was 20/16 in the right eye and 20/63 in the left eye. The fundus photographs revealed a bilateral, superotemporal and inferotemporal retinal nerve fiber layer defect, corresponding to his visual field defect. The patient was diagnosed with bilateral NTG. After 2 months, the patient's corrected visual acuity in the left eye worsened to counting fingers and a central visual field defect was noticed in the Humphrey visual field test in the left eye. At 4 months after the initial visit, his corrected visual acuity in the right eye became 20/100, and the Goldmann visual field test demonstrated cecocentral scotoma. The fundus photographs showed a papillomacular bundle defect in his left eye. At 7 months after the initial visit, his visual acuity was hand movement in the right eye and a finger count in the left eye. A series of LHON gene mutation tests revealed a 11778 mitochondrial gene mutation, and the patient was diagnosed with LHON.
CONCLUSIONS
Proper diagnosis of LHON might be disturbed by atypical manifestation of other optic nerve diseases, such as glaucoma. Therefore, suspecting LHON and checking for gene mutations as part of the work-up in patients with bilateral optic neuropathy is critical.

Keyword

Leber's hereditary optic neuropathy; Normal tension glaucoma

MeSH Terms

DNA, Mitochondrial
Eye
Fingers
Genes, Mitochondrial
Glaucoma
Hand
Humans
Low Tension Glaucoma
Middle Aged
Nerve Fibers
Optic Atrophy, Hereditary, Leber
Optic Nerve Diseases
Point Mutation
Retinaldehyde
Scotoma
Visual Acuity
Visual Field Tests
Visual Fields
DNA, Mitochondrial
Retinaldehyde

Figure

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  Figure 1. Retinal nerve fiber layer and disc photographs of the patient at the initial visit. Note superotemporal and inferotemporal retinal nerve fiber layer defect and disc rim notching in both eyes. Disc hyperemia or pseudoedema is not observed.

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  Figure 2. Humphrey visual field (HVF) test. (A) Note central visual field defect in the left eye. (B) Arcuate visual field defect is observed in the right eye.

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  Figure 3. Fundus photographs of the patient 4 months after the initial visit. Note a newly appeared papillomacular bundle defect in the left eye.

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  Figure 4. Goldmann visual field test of the patient 4 months from initial visit. (A) A central visual field defect in the left eye did not change significantly. (B) Note a newly appeared cecocentral visual field defect in the right eye.

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  Figure 5. Goldmann visual field test of the patient 7 months after the initial visit. It demonstrates deterioration of visual field since last study.

Reference

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