LAUSR

Inherited optic neuropathies are a clinically heterogeneous group of disorders that can be caused by variants in both the nuclear and mitochondrial genomes. MtDNA variants (Table 1) show strict maternal inheritance whereas nuclear variants can be inherited in dominant, recessive or X-linked patterns of inheritance (Table 2). Rarely, de novo variants have also been reported. The two most common inherited optic neuropathies are autosomal dominant optic atrophy (DOA) secondary to variants in the OPA1 gene (OMIM 165,500) and LHON (OMIM 535,000). LHON is caused by mtDNA variants and three so-called primary variants, m.3460G>A, m.11778G > A, and m.14484T > C, account for ~90% of