Table 5 Other inherited optic neuropathies linked to mitochondrial dysfunction
DiseaseOMIMInheritanceGene (protein)Protein functionReferences
Friedreich’s ataxia229300ArFXN (frataxin)Component of iron-sulfur clusters: regulation of mitochondrial respiratory chain activity and anti-oxidant properties253, 254
HMSN-6601152AdMFN2 (mitofusin-2)Mitochondrial outer membrane GTPase: pro-fusion protein involved in maintenance of the mitochondrial network and mtDNA nucleoids (cf Opa1)216, 217, 255
HSP-7607259ArSPG7 (paraplegin)Mitochondrial inner membrane protease: cleavage of Opa-1, control of mitochondrial ribosomal assembly and degradation of misfolded proteins219, 256
  • Ar, autosomal recessive; Ad, autosomal dominant.