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GENATLAS PHENOTYPE
last update : 22-04-2010
Symbol OADOM
Location 3q29
Name optic atrophy, deafness, ophthalmoplegia and myopathy
Corresponding gene OPA1
Main clinical features
  • congenital deafness with late-onset, progressive optic atrophy which resulted in only mildly reduced visual acuity, ophthalmoplegia, ptosis, ataxia, and nonspecific myopathy in middle age
  • optic atrophy progressive and associated with an abnormal electroretinogram without retinal pigment changes, hearing loss progressive and sensorineural type, usually becoming evident in the first or second decade of life
    • Genetic determination autosomal dominant
    Function/system disorder eye
    neuromuscular
    ear
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     R445H, mostly frequent
    Remark(s)