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. 2025 Aug 23;16(9):993. doi: 10.3390/genes16090993
ACMG American College of Medical Genetics and Genomics
arLHON autosomal recessive LHON
LHON Leber’s hereditary optic neuropathy
mtLHON mitochondrial LHON
NGS next-generation sequencing
OCT Optical coherence tomography
RGCs retinal ganglion cells
RNFL retinal nerve fiber layer
WES whole exome sequencing