Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
Kevin BabuKimberly SeamonAnn JewellAnna HarrisonAmy HarperHind Al SaifNatario L CouserPublished in: Ophthalmic genetics (2022)
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.