Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.

Kevin Babu, Kimberly Seamon,Ann Jewell,Anna Harrison,Amy Harper,Hind Al Saif,Natario Couser

Ophthalmic genetics（2022）

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摘要

This case series and review describe the ophthalmologic findings of HMSN6A and provides incentive to further investigate the correlation between molecular findings and the phenotype.

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关键词

Charcot–Marie–Tooth disease,HMSN6A,MFN2,optic atrophy,pathologic myopia

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