| 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 |