显性遗传性视神经萎缩伴进行性听力丧失和慢性进行性眼外肌麻痹（CPEO）。
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).
作者信息
Meire F, De Laey J J, de Bie S, van Staey M, Matton M T
出版信息
Ophthalmic Paediatr Genet. 1985 Feb;5(1-2):91-7. doi: 10.3109/13816818509007861.
PMID:4058877
Abstract
This paper describes a family where chronic progressive external ophthalmoplegia is associated with dominant optic atrophy and progressive sensorineural deafness. This may be a possible association in the same family of two diseases: progressive external ophthalmoplegia and dominant optic atrophy with progressive hearing loss. However, we believe that this family represents an unusual manifestation of ophthalmoplegia plus.
摘要
本文描述了一个慢性进行性眼外肌麻痹与显性视神经萎缩和进行性感音神经性耳聋相关的家系。这可能是同一家庭中两种疾病的一种可能关联：进行性眼外肌麻痹和伴有进行性听力丧失的显性视神经萎缩。然而，我们认为这个家系代表了眼肌麻痹加综合征的一种不寻常表现。
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