Next-generation sequencing is widely used in inherited diseases and cancer genetics fields. Next-generation sequencing technology
provides accurate diagnosis in genetically heterogeneous disorders such as retinitis pigmentosa, Leber congenital
amaurosis, or cone-rod dystrophy. However, the precise interpretation of variants produced by massively parallel sequencing is
somewhat difficult to most of ophthalmologists, and misinterpretation of these variants lead to unwanted devastating consequences
to the patients and their family. The molecular genetic findings need to be carefully evaluated in the context of the
clinical findings to avoid misdiagnosis. Gene therapy trials are already in the market for specific forms of Leber congenital
amaurosis. We are in the middle of exiting era of effective treatment for patients with inherited eye diseases, which was considered
as incurable in the past. To success such a treatment, molecular diagnosis will become essential.