Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

  • Li C
  • Kosmorsky G
  • Zhang K
 et al. 
  • 22


    Mendeley users who have this article in their library.
  • 31


    Citations of this article.


Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, OPA1. We previously described a unique syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia in two unrelated families associated with an R445H mutation in OPA1. The R445H mutation is the only OPA1 mutation that has been associated with this syndrome. In this manuscript, we clinically characterize an unrelated family with four members affected by optic atrophy and hearing loss without extraocular motility abnormalities or ptosis. This family also harbors the R445H mutation. These cases help illustrate the intra- and inter-family variability in phenotype associated with this mutation. As we continue to learn more about OPA1 and the function of its protein product, we will begin to understand the pathophysiology of optic atrophy. This understanding will ultimately lead to novel treatments directed toward preventing the visual loss and disability associated with this inherited disease.

Author-supplied keywords

  • Deafness
  • Dynamin
  • Mitochondria
  • OPA1
  • Optic atrophy

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document


  • Chunmei Li

  • Gregory Kosmorsky

  • Kang Zhang

  • Bradley J. Katz

  • Jian Ge

  • Elias I. Traboulsi

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free