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GENATLAS PHENOTYPE
last update : 16-09-2009
Symbol OPA1
Location 3q29
Name optic atrophy 1
Other name(s)
  • Kjer-type optic atrophy
  • optic atrophy, juvenile
    • Corresponding gene OPA1
    related resource Retinal Information Network
    Other symbol(s) OAK
    Main clinical features
  • characterized by decrease in visual acuity, tritanopia, sensivity loss in the central visual fields, and pallor of the optic nerve that is readily seen on fundus examination
  • preferential loss of retinal ganglion cells and progressive optic nerve degeneration (PMID: 20484224))
  • associated to thickness of the retinal nerve fiber layer (RNFL) and the layer including the ganglion cell layer around the optic discs
  • approximately 20p100 of affected patients will also develop more severe neuromuscular complications, with phenotypic variability, sensorineural deafness which develops from late childhood to early adulthood, followed by a combination of ataxia and neuromuscular disorder (PMID: 20484224))
    • Genetic determination autosomal dominant
    Prevalence 1/12000, 60p100 of all cases of autosomal dominant optic atrophy
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   abnormal protein/gain of function activation of cryptic splice site, or leaky splicing defect
    abnormal splicing   abnormal protein/loss of function 871-1G>T
    insertion   abnormal protein/loss of function 579_580insTT
    Remark(s)