Ortiz R G, Newman N J, Shoffner J M, Kaufman A E, Koontz D A, Wallace D C
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Ga.
Arch Ophthalmol. 1993 Nov;111(11):1525-30. doi: 10.1001/archopht.1993.01090110091031.
Ophthalmologic and neurologic manifestations of the mitochondrial DNA mutation at position 8993 (MTATP*NARP8993) are reported and compared with previously published reports of patients with the 8993 mutation and other mitochondrial disorders.
Pedigree analysis.
University referral center.
Eight subjects from two unrelated pedigrees that were positive for the mitochondrial DNA replacement mutation at nucleotide position 8993 were evaluated ophthalmologically and neurologically.
Retinal abnormalities ranged from mild salt-and-pepper changes to severe retinitis pigmentosa-like changes with maculopathy. Neurologic manifestations were also highly variable and ranged from migraine headaches to severe dementia and Leigh's disease.
The type and extent of retinal pigmentary changes and neurologic findings varied substantially, even among members of the same family. These changes, although not specific for the MTATP*NARP8993 mutation, are highly suggestive of mitochondrial disease.
报告线粒体DNA第8993位突变（MTATP*NARP8993）的眼科和神经学表现，并与先前发表的8993突变患者及其他线粒体疾病患者的报告进行比较。
系谱分析。
大学转诊中心。
对来自两个无亲缘关系家系的8名受试者进行了眼科和神经学评估，这些受试者的线粒体DNA在核苷酸位置8993处的替代突变呈阳性。
视网膜异常范围从轻度的椒盐样改变到伴有黄斑病变的严重色素性视网膜炎样改变。神经学表现也高度可变，范围从偏头痛性头痛到严重痴呆和 Leigh 病。
即使在同一家族成员中，视网膜色素变化和神经学发现的类型和程度也有很大差异。这些变化虽然并非MTATP*NARP8993突变所特有，但高度提示线粒体疾病。
