Moura-Coelho Nuno, Pinto Proença Rita, Tavares Ferreira Joana, Cunha João Paulo
Ophthalmology, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal.
NOVA Medical School | Faculdade de Ciências Médicas - Universidade Nova de Lisboa (NMS|FCM-UNL), Lisbon, Portugal.
BMJ Case Rep. 2019 Mar 20;12(3):e227977. doi: 10.1136/bcr-2018-227977.
Leber's hereditary optic neuropathy (LHON) is an optic neuropathy of mitochondrial inheritance, characterised by incomplete penetrance and variable expressivity. Typically, young male patients present with sequential, severe, rapidly progressive loss of central vision, with characteristic funduscopic findings. However, LHON may present at any age, in both genders, and fundus examination may be normal. Evidence has emerged to support the role of environmental factors in triggering LHON, by disrupting the normal mechanisms of mitochondrial function. We present two clinical cases of LHON of late onset, and provide a literature review on atypical cases of LHON and the role of environmental triggers.
Leber遗传性视神经病变（LHON）是一种线粒体遗传的视神经病变，其特征为不完全外显率和可变表达性。通常，年轻男性患者会出现顺序性、严重、快速进展的中心视力丧失，并伴有特征性的眼底表现。然而，LHON可在任何年龄、任何性别出现，眼底检查可能正常。有证据表明，环境因素通过破坏线粒体功能的正常机制，在触发LHON方面发挥作用。我们报告两例迟发性LHON的临床病例，并对LHON的非典型病例及环境触发因素的作用进行文献综述。
