期刊
SEMINARS IN OPHTHALMOLOGY
卷 28, 期 5-6, 页码 422-426出版社
TAYLOR & FRANCIS INC
DOI: 10.3109/08820538.2013.825296
关键词
Autosomal dominant hereditary optic atrophy plus; genetics; Kjer's syndrome; neuro-ophthalmology; OPA1
Autosomal dominant hereditary optic atrophy (ADOA), also known as Kjer's syndrome, is a common hereditary cause of progressive bilateral vision loss. Recent advancements in the understanding of the genetics of this condition have revealed that a single gene may account for a large portion of the clinical manifestations in these patients. It has long been recognized that in a not-insignificant number of ADOA patients, a number of plus symptoms may follow decades after vision loss. It is important that clinicians recognize the potential link to plus manifestations. The goal of this manuscript is to provide for the general ophthalmologist a practical outline of the genetics and clinical manifestations of ADOA and the ADOA+.
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