Leo-Kottler B, Wissinger B
Department für Augenheilkunde, Augenklinik, Schleichstr. 12-16, 72076, Tübingen, Deutschland.
Ophthalmologe. 2011 Dec;108(12):1179-92; quiz 1193-4. doi: 10.1007/s00347-011-2482-y.
Leber's hereditary optic neuropathy (LHON) is a rare disease primarily affecting the retinal ganglion cells. In most cases patients with LHON develop permanent visual loss with a large central scotoma in the visual field of both eyes. The optic disc becomes partially or completely pale. At the onset of the disease many patients are considered to suffer from an optic neuritis and are treated under the diagnostic and therapeutic regimen of optic neuritis. LHON is mostly only considered when high dose cortisone therapy fails to be effective or the second eye is affected. Thereafter, molecular genetic analysis will prove LHON in these cases. Detailed anamnesis including pedigree analysis in combination with observance of the peripapillary microangiopathic alterations at the fundus will help to speed up the diagnosis of LHON, but even after exact clinical and molecular genetic diagnosis of LHON some aspects of the disease still remain a mystery today.
莱伯遗传性视神经病变（LHON）是一种主要影响视网膜神经节细胞的罕见疾病。在大多数情况下，LHON患者会出现永久性视力丧失，双眼视野中会出现巨大的中心暗点。视盘会部分或完全变白。在疾病发作时，许多患者被认为患有视神经炎，并按照视神经炎的诊断和治疗方案进行治疗。只有在高剂量皮质类固醇治疗无效或另一只眼睛受到影响时，才会考虑LHON。此后，分子遗传学分析将在这些病例中证实LHON。详细的病史采集，包括家系分析，并结合观察眼底视乳头周围微血管病变，将有助于加快LHON的诊断，但即使在对LHON进行了准确的临床和分子遗传学诊断之后，该疾病的某些方面至今仍然是个谜。
