Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome
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 t...
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| Veröffentlicht in: | Ophthalmology (Rochester, Minn.) Minn.), 1984-08, Vol.91 (8), p.908-915 |
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| container_title | Ophthalmology (Rochester, Minn.) |
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| creator | Treft, R L Sanborn, G E Carey, J Swartz, M Crisp, D Wester, D C Creel, D |
| description | 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. |
| doi_str_mv | 10.1016/S0161-6420(84)34214-2 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0161-6420 |
| ispartof | Ophthalmology (Rochester, Minn.), 1984-08, Vol.91 (8), p.908-915 |
| issn | 0161-6420 |
| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Adult Aged Ataxia - complications Blepharoptosis - complications Blepharoptosis - genetics Child Deafness - complications Female Hearing Loss, Sensorineural - complications Humans Male Middle Aged Muscular Diseases - complications Ophthalmoplegia - complications Ophthalmoplegia - genetics Optic Atrophy - complications Optic Atrophy - genetics Pedigree Syndrome |
| title | Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome |
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