Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.
Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.
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DOI：
10.1076/opge.24.4.233.17230
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发表时间：
2003-12-01
影响因子：
1.2
通讯作者：
Andreasson, Sten
中科院分区：
文献类型：
--
作者：
Granse, Lotta;Bergstrand, Ingar;Andreasson, Sten
目的：以电生理和血流测量为重点，描述一个显性视神经萎缩家族的临床表型，并鉴定出OPA1基因突变。方法：对7名家庭成员进行检查。眼科检查包括视力检查、眼镜检查、动态视野检查、色觉测试、全视野视网膜电图（ERG）、多焦视网膜电图（MERG）和多焦视觉诱发电位（MVEP）。采用扫描激光多普勒血流仪（SLDF）和彩色多普勒成像技术测量3例患者的球后动脉血流和视网膜毛细血管灌注。PCR-SSCP和DNA测序确定了OPA1基因外显子18突变的存在。结果：该家族的临床特征差异较大。ERG和MERG均显示视网膜功能正常，而MVEP均异常。SLDF检查的3例患者视网膜和视神经头毛细血管灌注明显减少。视网膜中央动脉和眼动脉的球后血流速度明显降低。在所有7名受试者中，发现了OPA1基因的微缺失（1756-1767del(12 bp)）。结论：OPA1基因突变的患者具有非常可变的表型。MVEP和血流测量是两种新的客观方法，可以更容易地检测这种特定的遗传性视神经萎缩。
OBJECTIVE: To characterize the clinical phenotype, with emphasis on electrophysiology and blood flow measurements, of a family with dominant optic nerve atrophy and an identified mutation in the OPA1 gene.METHODS: Seven family members were examined. Ophthalmological evaluation included testing of visual acuity, ophthalmolscopy, kinetic perimetry, color vision testing, full-field electroretinography (ERG), multifocal electroretinography (MERG), and multifocal visual evoked potential (MVEP). Retrobulbar arterial blood flow and retinal capillary perfusion was measured in three patients using scanning laser Doppler flowmetry (SLDF) and color Doppler imaging techniques. PCR-SSCP and DNA sequencing determined the presence of a mutation in exon 18 of the OPA1 gene.RESULTS: The clinical characteristics varied considerably in the family. The ERG and the MERG demonstrated normal retinal function, while the MVEP was abnormal in all examined patients. Retinal and optic nerve head capillary perfusion was significantly decreased in the three patients examined with SLDF. Retrobulbar blood flow velocities were significantly decreased in the central retinal and ophthalmic arteries. In all seven examined subjects, a microdeletion (1756-1767del(12 bp)) in the OPA1 gene was identified.CONCLUSION: Patients with a mutation in the OPA1 gene have a very variable phenotype. MVEP and blood flow measurements are two new objective methods for an easier detection of this specific genetic optic nerve atrophy.