A phenotyphic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

Autosomal Dominant Optic Atrophy (ADOA or Kier's disease) is one of the most frequent forms of inherited optic atrophy, often presenting in the first decade of life with progressive impairment of visual acuity, variably combined with dyschromatopsia and optic nerve pallor. More than 90 mutations spanning throughout the Optic Atrophy 1 (OPA1) gene were disease-associated with most cases of ADOA. Genotype-phenotype comparisons have been inconclusive except for ADOA complicated with a rare sensorineural deafness (ADOAD). Here we present a family with an unusual phenotype of ADOAD and peripheral polineuropathy associated with a novel OPA1 mutation.