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. 2011 Feb 18;25(4):395–404. doi: 10.1016/j.sjopt.2011.02.002

Figure 3.

Figure 3

Pathogenic mtDNA mutations associated with ocular phenotypes. The circular, double-stranded human mitochondrial genome is depicted with sites of common mtDNA mutations highlighted associated with LHON (the three primary mtDNA mutations in the MTND1, MTND4 and MTND6 genes are shown in red), retinitis pigmentosa as a feature of the NARP phenotype (m.8993T>G/C mutations shown in blue) or PEO and ophthalmoparesis (shown in black). These include single, large-scale mtDNA deletions (as highlighted by the site of the 4977-bp “common” deletion), rare mutations in mitochondrial RNA genes (e.g. m.11232T>C in MTND4) or mitochondrial tRNA point mutations. Whilst these appear to be distributed amongst the tRNA genes, mutations in genes encoding mt-tRNALeu(UUR), mt-tRNALeu(CUN), mt-tRNAIle and mt-tRNALys are most prevalent.