Which type of optic atrophy is due to mitochondrial DNA mutations and is inherited from the mother?

Which type of optic atrophy is due to mitochondrial DNA mutations and is inherited from the mother?

• A. Retinitis pigmentosa
• B. NAION
• C. Neuroretinitis
• D. Leber's optic neuropathy

Answer: (D)

Leber's hereditary optic neuropathy is caused by mutations in mitochondrial DNA, and mitochondria are inherited almost exclusively from the mother. This matrilineal transmission means the optic neuropathy is passed along through the maternal line, not through fathers. The condition typically presents as subacute, painless central vision loss in young adults, and it stems from defects in the mitochondrial energy production that preferentially affect retinal ganglion cells. The most common mtDNA mutations involve subunits of complex I (for example, ND4, ND1, ND6), leading to impaired oxidative phosphorylation and optic nerve degeneration. Other optic neuropathies listed are not driven by mtDNA mutations with maternal inheritance: retinitis pigmentosa can have various inheritance patterns, non-arteritic anterior ischemic optic neuropathy is vascular rather than genetic, and neuroretinitis is inflammatory/infectious.

Leber's hereditary optic neuropathy is caused by mutations in mitochondrial DNA, and mitochondria are inherited almost exclusively from the mother. This matrilineal transmission means the optic neuropathy is passed along through the maternal line, not through fathers. The condition typically presents as subacute, painless central vision loss in young adults, and it stems from defects in the mitochondrial energy production that preferentially affect retinal ganglion cells. The most common mtDNA mutations involve subunits of complex I (for example, ND4, ND1, ND6), leading to impaired oxidative phosphorylation and optic nerve degeneration.

Other optic neuropathies listed are not driven by mtDNA mutations with maternal inheritance: retinitis pigmentosa can have various inheritance patterns, non-arteritic anterior ischemic optic neuropathy is vascular rather than genetic, and neuroretinitis is inflammatory/infectious.