Bhatti M T, Newman N J
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA.
J Neuroophthalmol. 1999 Mar;19(1):28-33.
In most cases of Leber's hereditary optic neuropathy (LHON) the only clinical manifestation is visual loss. A multiple sclerosis-like illness has been infrequently reported in association with LHON. Most patients are women harboring the mtDNA 11778 mutation. We present a young man with clinical and paraclinical evidence of a demyelinating process with profound bilateral visual loss who harbored the mtDNA 14484 mutation associated with LHON.
在大多数Leber遗传性视神经病变(LHON)病例中,唯一的临床表现是视力丧失。与LHON相关的类似多发性硬化症的疾病鲜有报道。大多数患者是携带线粒体DNA 11778突变的女性。我们报告了一名年轻男性,他有脱髓鞘过程的临床和辅助检查证据,伴有严重的双侧视力丧失,且携带与LHON相关的线粒体DNA 14484突变。