Mitochondrial disorder with OPA1 mutation lacking optic atrophy.
OPA1 is highly expressed in retina and optic nerve. OPA1 mutations were first identified in patients with non-syndromic autosomal dominant optic atrophy. Recently, OPA1 mutations were detected in a multisystemic disorder which has optic atrophy as the core clinical feature and multiple mitochondrial DNA (mtDNA) deletions in muscle. We report a patient with a multisystemic disorder and multiple muscle mtDNA deletions, carrying an in-frame deletion in OPA1 in the absence of optic atrophy. This patient provides evidence that optic atrophy is not the main clinical manifestation of OPA1-related disorders. OPA1 analysis should be considered in mitochondrial disorders despite the lack of optic atrophy.
Milone
Margherita
M
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester MN, 55905, USA. milone.margherita@mayo.edu
Younge
Brian R
BR
Wang
Jing
J
Zhang
Shulin
S
Wong
Lee-Jun
LJ
D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology; D009896:Optic Atrophy / Q000473:pathology*; D017384:Sequence Deletion
D004272:DNA, Mitochondrial; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human