Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.

@article{Treft1984DominantOA,
  title={Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.},
  author={R. L. Treft and G. Sanborn and J. Carey and M. Swartz and D. Crisp and D. Wester and D. Creel},
  journal={Ophthalmology},
  year={1984},
  volume={91 8},
  pages={
          908-15
        }
}
Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in the first or second decade of life. In midlife, ptosis, ophthalmoplegia, dystaxia, and a nonspecific myopathy occur. 
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation
Optic Atrophy in Children
Hereditary optic atrophies
...
1
2
3
4
...

References

SHOWING 1-10 OF 34 REFERENCES
Autosomal dominant Kearns-Sayre syndrome.
Juvenile diabetes mellitus and optic atrophy.
...
1
2
3
4
...