J Korean Ophthalmol Soc.  2014 Apr;55(4):628-632.

Bilateral Optic Neuropathy in Middle-Aged Woman Associated with Charcot Marie Tooth Disease Type 2A: A Case Report

• Yoo YJ
• Yu YS
• Kim SJ

Abstract

PURPOSE
Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by mutations in the mitofusin 2 (MFN2) genes associated with variable central nervous system (CNS) involvement. The authors report a case of a middle-aged woman with genetically confirmed CMT type 2 (CMT2), combined with delayed-onset bilateral optic neuropathy.
CASE SUMMARY
A 47-year-old woman presented with complaints of subacute decrease of visual acuity in both eyes. Her corrected visual acuity was 20/200 in the right eye and 20/320 in the left eye. Fundus photographs revealed bilateral disc pallor and diffuse retinal nerve fiber layer defects. No papillomacular bundle defect was observed. Goldmann perimetry showed central scotoma in both eyes. She had suffered from muscle wasting of the legs and foot deformities such as high arches and hammer toes since childhood and required a wheelchair for ambulation. A series of CMT gene mutation tests revealed an MFN2 gene mutation, c.617C>T (p.Thr206Ile), and the patient was diagnosed with CMT2A.
CONCLUSIONS
Charcot-Marie-Tooth disease is a common inherited neuromuscular disorder and CMT2A, an axonal CMT neuropathy, is associated with bilateral optic neuropathy. Therefore, suspecting CMT and testing for gene mutations as part of the work-up in patients with subacute bilateral optic neuropathy associated with peripheral neuropathy is critical.

Keyword

Bilateral optic neuropathy; Charcot-Marie-Tooth disease type 2A; Mitofusin2

MeSH Terms

Axons
Central Nervous System
Charcot-Marie-Tooth Disease*
Female
Foot Deformities
Hammer Toe Syndrome
Humans
Leg
Middle Aged
Nerve Fibers
Optic Nerve Diseases*
Pallor
Peripheral Nervous System Diseases
Retinaldehyde
Scotoma
Visual Acuity
Visual Field Tests
Walking
Wheelchairs
Retinaldehyde

Figure

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  Figure 1. Color fundus photograph of right eye (A) and color fundus photograph for left eye (B) of the patient at the initial visit. Disc pallor is observed but disc hyperemia or pseudoedema is not observed in both eyes. Note and margin of the retinal nerve fiber layer defect is not definite in both eyes.

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  Figure 2. Goldmann visual fields (GVF) reveal central scotoma in both eyes. She had suffered a simultaneous subacute visual acuity decrease in her both eyes.

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  Figure 3. Pattern Reversal Visual Evoked Potential (PR-VEP) shows delayed P100 latency in both eyes.

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  Figure 4. Electroretinogram reveals no definite abnormal findings.

Reference

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