[Correctly interpret the genetic testing results of inherited optic neuropathy].

Inherited optic neuropathy (ION), which can be characterized by isolated optic atrophy or together with systemic manifestations, is a rare optic nerve dysfunction with multiple genetic patterns. Genetic testing plays the key roles in the diagnosis, genetic counseling and treatment of ION. Currently, most ophthalmologists are unfamiliar with how to interpret the genetic testing results correctly. This article describes the genetic characteristics of ION and explains the main points on genetic reports interpretation to help ophthalmologists getting familiar with this relatively rare field and to promote the clinical application of gene testing. (Chin J Ophthalmol, 2021, 57: 326-330).