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Dominant optic atrophy syndrome (dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy)  379


Dominant Optic Atrophy Syndrome (Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia,
Dystaxia, and Myopathy)& 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp;   & 737e41h nbsp; 379

General: Autosomal dominant disorder; ptosis, ophthalmoplegia, dystaxia, and nonspecific myopathy occur in midlife; optic atrophy and hearing loss occur in early life; autosomal dominant inheritance.

Ocular: Ptosis; ophthalmoplegia; progressive optic atrophy; abnormal electroretinogra-phy; diplopia; ocular myopathy; nystagmus; focal temporal excavation of optic disk; dyschromatopsia (blue-yellow); myopia; temporal pallor of the optic nerve.

Clinical: Sensorineural hearing loss; myopathy; dystaxia.

Del Porto G, et al. Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis. Graefes Arch Clin Exp Ophthalmol 1994; 232:717-727.

Eliott D, et al. Visual prognosis in autosomal dominant optic atrophy. Am J Ophthalmol 1993; 115:360-367.

Grehn F, et al. Dominant optic atrophy with sensorineural hearing loss. Ophthalmic Paediatr Genet 1982;1 : 77-88.

Treft RL, et al. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. Ophthalmology 1984; 91:908-915.




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