Newman Nancy J
Department of Ophthalmology, Emory University School of Medicine, Emory Eye Center, 1365-B Clifton Road NE, Atlanta, GA 30322, USA.
Am J Ophthalmol. 2005 Sep;140(3):517-23. doi: 10.1016/j.ajo.2005.03.017.
To review our current knowledge of inherited optic neuropathies.
Perspective.
Literature review.
The hereditary optic neuropathies consist of a group of disorders in which optic nerve dysfunction figures solely or prominently and direct inheritance is clinically or genetically proven. The most common of these disorders are autosomal dominant optic atrophy (Kjers' disease) and maternally-inherited Leber's hereditary optic neuropathy. Other inherited neurologic and systemic syndromic diseases will frequently manifest optic neuropathy. A selective vulnerability of the optic nerve to perturbations in mitochondrial function may underlie a final common pathway among these disorders.
The ophthalmologist should be familiar with the clinical characteristics and diagnosis of the hereditary optic neuropathies. Recent advances in our understanding of the underlying pathophysiology of the inherited optic neuropathies may provide insight into their treatment and the treatment of acquired optic nerve disorders.
回顾我们目前对遗传性视神经病变的认识。
综述。
文献回顾。
遗传性视神经病变是一组疾病，其中视神经功能障碍单独或显著存在，且临床或遗传学已证实存在直接遗传。这些疾病中最常见的是常染色体显性遗传性视神经萎缩（凯尔氏病）和母系遗传的Leber遗传性视神经病变。其他遗传性神经和全身性综合征性疾病也常表现为视神经病变。视神经对线粒体功能紊乱的选择性易损性可能是这些疾病共同的最终发病机制。
眼科医生应熟悉遗传性视神经病变的临床特征和诊断。我们对遗传性视神经病变潜在病理生理学认识的最新进展可能为其治疗及获得性视神经疾病的治疗提供思路。
