Nucci Carlo, Martucci Alessio, Mancino Raffaele, Cerulli Luciano
Ophthalmological Unit, Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Via Montpellier 1, Rome, Italy.
Int Ophthalmol. 2013 Feb;33(1):75-7. doi: 10.1007/s10792-012-9623-4. Epub 2012 Sep 17.
The purpose of this article is to describe a case of open-angle glaucoma progression associated with Leber's hereditary optic neuropathy. Single case analysis method is used. A 53-year-old woman with a previous diagnosis of glaucoma presented with progressive visual field loss. Complete ophthalmological examination and blood tests were negative for other concomitant diseases. Genetic counseling revealed mitochondrial DNA mutation compatible with the diagnosis of Leber's hereditary optic neuropathy. In conclusion, the case describes the concomitant occurrence of open-angle glaucoma and Leber's optic neuropathy. We hypothesize that the two diseases may have a cumulative effect on oxidative stress and retinal ganglion cell death with the consequent rapid progression of visual impairment. Screening for mitochondrial DNA mutations may be requested in patients with glaucoma who, despite pharmacologically controlled intraocular pressure, show rapid progression of the disease.
本文旨在描述一例与Leber遗传性视神经病变相关的开角型青光眼进展病例。采用单病例分析方法。一名先前被诊断为青光眼的53岁女性出现进行性视野缺损。全面的眼科检查和血液检查未发现其他伴随疾病。遗传咨询显示线粒体DNA突变与Leber遗传性视神经病变的诊断相符。总之，该病例描述了开角型青光眼和Leber视神经病变的同时发生。我们推测这两种疾病可能对氧化应激和视网膜神经节细胞死亡产生累积效应，从而导致视力损害迅速进展。对于眼压虽经药物控制但病情仍迅速进展的青光眼患者，可能需要进行线粒体DNA突变筛查。
