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

Sirs: Autosomal Dominant Optic Atrophy (ADOA or Kier’s disease, OMIM #165500) is one of the most frequent forms of inherited optic atrophy [1], often presenting in the first decade of life with progressive impairment of visual acuity, variably combined with dyschromatopsia and optic nerve pallor [2]. More than 90 mutations spanning throughout the Optic… CONTINUE READING